학술논문
'학술논문'
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1~20
Academic Journal
Kang MH; Department of Pediatrics, Darby Children's Research Institute.; Molecular and Cellular Biology and Pathobiology Program.; Hollings Cancer Center, and.; Thomas SP; Department of Pathobiology, University of Guelph, Guelph, Ontario, Canada.; Westley C; Department of Pediatrics, Darby Children's Research Institute.; Blouin T; Department of Pediatrics, Darby Children's Research Institute.; Molecular and Cellular Biology and Pathobiology Program.; Xu L; Ottawa Hospital Research Institute.; Chan YK; Wyss Institute for Biologically Inspired Engineering, and.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.; Lisk E; Department of Pediatrics, Darby Children's Research Institute.; Molecular and Cellular Biology and Pathobiology Program.; Allen SE; Department of Pediatrics, Darby Children's Research Institute.; Molecular and Cellular Biology and Pathobiology Program.; Vadivel A; Ottawa Hospital Research Institute.; Nangle K; Ottawa Hospital Research Institute.; Ramamurthy J; Ottawa Hospital Research Institute.; Pei Y; Department of Pathobiology, University of Guelph, Guelph, Ontario, Canada.; Lewis LA; Department of Pediatrics, Darby Children's Research Institute.; Molecular and Cellular Biology and Pathobiology Program.; Chiang JJ; Wyss Institute for Biologically Inspired Engineering, and.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.; Romeo MJ; Hollings Cancer Center, and.; Vaena S; Hollings Cancer Center, and.; O'Quinn EC; Hollings Cancer Center, and.; Schrecker HD; Department of Pediatrics, Darby Children's Research Institute.; Langdon CG; Department of Pediatrics, Darby Children's Research Institute.; Molecular and Cellular Biology and Pathobiology Program.; Hollings Cancer Center, and.; Nietert PJ; Department of Public Health Sciences, Medical University of South Carolina, Charleston, South Carolina.; Church GM; Wyss Institute for Biologically Inspired Engineering, and.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Harvard University, Boston, Massachusetts.; Whitsett JA; Division of Neonatology.; Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, and.; College of Medicine, University of Cincinnati, Cincinnati, Ohio.; Wootton SK; Department of Pathobiology, University of Guelph, Guelph, Ontario, Canada.; Thébaud B; Ottawa Hospital Research Institute.; Department of Cellular and Molecular Medicine, and.; Department of Pediatrics, Children's Hospital of Eastern Ontario (CHEO) and CHEO Research Institute, University of Ottawa, Ontario, Canada.
Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print Cited Medium: Internet ISSN: 1535-4989 (Electronic) Linking ISSN: 10441549 NLM ISO Abbreviation: Am J Respir Cell Mol Biol Subsets: MEDLINE
Academic Journal
Buchholz HM; Institute of Functional and Applied Anatomy, Medizinische Hochschule Hannover, Hannover, Germany.; Roeder F; Institute of Functional and Applied Anatomy, Medizinische Hochschule Hannover, Hannover, Germany.; Wedekind D; Institute of Laboratory Animal Science, Medizinische Hochschule Hannover, Hannover, Germany.; Dittrich-Breiholz O; Research Core Unit Genomics, Medizinische Hochschule Hannover, Hannover, Germany.; Ruwisch J; Department of Respiratory and Infectious Medicine, Medizinische Hochschule Hannover, Hannover, Germany.; Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany.; Hansen J; Icahn School of Medicine at Mount Sinai, New York, New York, United States.; Ruppert C; Department of Internal Medicine, University of Giessen, Giessen, Germany.; Universities of Giessen and Marburg Lung Center (UGMLC), Member of the German Center for Lung Research (DZL), University of Giessen, Giessen, Germany.; Smith BJ; Department of Bioengineering, College of Engineering Design and Computing, University of Colorado Denver | Anschutz Medical Campus, Aurora, Colorado, United States.; Department of Pediatric Pulmonary and Sleep Medicine, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, United States.; Knudsen L; Institute of Functional and Applied Anatomy, Medizinische Hochschule Hannover, Hannover, Germany.; Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany.
Publisher: American Physiological Society Country of Publication: United States NLM ID: 8502536 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1601 (Electronic) Linking ISSN: 01617567 NLM ISO Abbreviation: J Appl Physiol (1985) Subsets: MEDLINE
Academic Journal
Asrat T; Department of Biochemistry, Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada.; Jackman D; Department of Biochemistry, Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada.; Booth V; Department of Biochemistry, Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada.; Department Physics and Physical Oceanography, Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Academic Journal
Herman L; Ghent Research Group on Nanomedicines, Laboratory of General Biochemistry and Physical Pharmacy, Faculty of Pharmaceutical Sciences, Ghent University, Ottergemsesteenweg 460, 9000 Ghent, Belgium. Electronic address: Lore.Herman@UGent.be.; Guagliardo R; Ghent Research Group on Nanomedicines, Laboratory of General Biochemistry and Physical Pharmacy, Faculty of Pharmaceutical Sciences, Ghent University, Ottergemsesteenweg 460, 9000 Ghent, Belgium. Electronic address: Roberta.Guagliardo@UGent.be.; Zamborlin A; Ghent Research Group on Nanomedicines, Laboratory of General Biochemistry and Physical Pharmacy, Faculty of Pharmaceutical Sciences, Ghent University, Ottergemsesteenweg 460, 9000 Ghent, Belgium. Electronic address: Agata.Zamborlin@UGent.be.; Liu Q; Ghent Research Group on Nanomedicines, Laboratory of General Biochemistry and Physical Pharmacy, Faculty of Pharmaceutical Sciences, Ghent University, Ottergemsesteenweg 460, 9000 Ghent, Belgium. Electronic address: Qiaoyu.Liu@UGent.be.; Pérez-Gil J; Departamento de Bioquimica y Biologia Molecular, Facultad de Biologia, Research Institute Hospital 12 de Octubre, Universidad Complutense, José Antonio Novais 2, 28040 Madrid, Spain. Electronic address: jperezgil@bio.ucm.es.; De Smedt SC; Ghent Research Group on Nanomedicines, Laboratory of General Biochemistry and Physical Pharmacy, Faculty of Pharmaceutical Sciences, Ghent University, Ottergemsesteenweg 460, 9000 Ghent, Belgium. Electronic address: Stefaan.Desmedt@UGent.be.; Raemdonck K; Ghent Research Group on Nanomedicines, Laboratory of General Biochemistry and Physical Pharmacy, Faculty of Pharmaceutical Sciences, Ghent University, Ottergemsesteenweg 460, 9000 Ghent, Belgium. Electronic address: Koen.Raemdonck@UGent.be.
Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8607908 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4995 (Electronic) Linking ISSN: 01683659 NLM ISO Abbreviation: J Control Release Subsets: MEDLINE
Academic Journal
Mapelli, Massimo; Mattavelli, Irene; Salvioni, Elisabetta; Banfi, Cristina; Mallia, Alice; Galotta, Arianna; Mantegazza, Valentina; Garlaschè, Anna; Campodonico, Jeness; Rubbo, Filippo Maria; Paganin, Chiara; Capovilla, Teresa Maria; Caputo, Rebecca; Contini, Mauro; Gugliandolo, Paola; Vignati, Carlo; Pezzuto, Beatrice; Grilli, Giulia; Scatigna, Marco; Bonomi, Alice
Academic Journal
Moskowitzova K; Department of Surgery, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA.; Naus AE; Department of Surgery, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA.; Dang TT; Department of Surgery, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA.; Zurakowski D; Department of Surgery, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA.; Fauza DO; Department of Surgery, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA.
Publisher: S. Karger Country of Publication: Switzerland NLM ID: 9107463 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9964 (Electronic) Linking ISSN: 10153837 NLM ISO Abbreviation: Fetal Diagn Ther Subsets: MEDLINE
Academic Journal
Fleury M; Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Delestrain C; Pediatrics Department, Centre Hospitalier Intercommunal de Créteil, Creteil, France.; INSERM, IMRB, Université Paris-Est Créteil Val de Marne, Creteil, France.; Roditis L; Pediatric Pulmonology Department, University Hospital, Toulouse, France.; Perisson C; Pediatric Department, La Réunion Sites Sud University Hospital, Saint-Pierre, France.; Renoux MC; Pediatric Pulmonology Department, University hospital, Montpellier, France.; Thumerelle C; Pediatric Pulmonology Department, Jeanne de Flandre University Hospital, Lille, France.; Epaud R; Pediatrics Department, Centre Hospitalier Intercommunal de Créteil, Creteil, France.; INSERM, IMRB, Université Paris-Est Créteil Val de Marne, Creteil, France.; Fletcher C; Pediatrics Department, Centre Hospitalier Intercommunal de Créteil, Creteil, France.; Jedidi N; Clinical research Department, Saint-Antoine Hospital, Sorbonne University, Paris, France.; Coulomb L'Hermine A; Pathology Department, Assistance Publique Hôpitaux de Paris, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Corvol H; Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Inserm UMR S_938, Centre de Recherche Saint Antoine, Sorbonne University, Paris, France.; Ducou le Pointe H; Pediatric Radiology department, Assistance Publique Hôpitaux de Paris, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Fanen P; INSERM, IMRB, Université Paris-Est Créteil Val de Marne, Creteil, France.; Genetic Department, Henri Mondor Hospital, APHP, Université Paris-Est Créteil Val de Marne, Creteil, France.; Sileo C; Pediatric Radiology department, Assistance Publique Hôpitaux de Paris, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Louvrier C; AP-HP, Molecular Genetics Unit, Hôpital Armand Trousseau, Sorbonne University, Paris, France.; Inserm UMR_S933, Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University, Paris, France.; de Becdelievre A; INSERM, IMRB, Université Paris-Est Créteil Val de Marne, Creteil, France.; Genetic Department, Henri Mondor Hospital, APHP, Université Paris-Est Créteil Val de Marne, Creteil, France.; Legendre M; AP-HP, Molecular Genetics Unit, Hôpital Armand Trousseau, Sorbonne University, Paris, France.; Inserm UMR_S933, Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Nathan N; Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France nadia.nathan@aphp.fr.; Inserm UMR_S933, Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University, Paris, France.
Publisher: British Medical Assn Country of Publication: England NLM ID: 0417353 Publication Model: Electronic Cited Medium: Internet ISSN: 1468-3296 (Electronic) Linking ISSN: 00406376 NLM ISO Abbreviation: Thorax Subsets: MEDLINE
Academic Journal
Yegit, C.Y.; Eres, M.; Karabulut, S.; Balci, M.S.; Ergenekon, A.P.; Eralp, E.E.; Gokdemir, Y.; Karadag, B.; Kılınc, M.A.; Kurland, G.
In: Pediatric Pulmonology . (Pediatric Pulmonology, July 2025, 60(7))
Academic Journal
Bahrami R; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Golshan-Tafti M; Department of Pediatrics, Islamic Azad University of Yazd, Yazd, Iran.; Dastgheib SA; Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.; Alijanpour K; General Practitioner, Babol University of Medical Sciences, Babol, Iran.; Yeganegi M; Department of Obstetrics and Gynecology, Iranshahr University of Medical Sciences, Iranshahr, Iran.; Lookzadeh MH; Mother and Newborn Health Research Center, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Mirjalili SR; Mother and Newborn Health Research Center, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Azizi S; Shahid Akbarabadi Cilinical Research Development Unit, Iran University of Medical Sciences, Tehran, Iran.; Aghasipour M; Department of Cancer Biology, College of Medicine, University of Cincinnati, OH, USA.; Shiri A; Student Research Committee, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.; Noorishadkam M; Mother and Newborn Health Research Center, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Neamatzadeh H; Mother and Newborn Health Research Center, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Publisher: Informa Healthcare Country of Publication: England NLM ID: 101230972 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-3823 (Electronic) Linking ISSN: 15513815 NLM ISO Abbreviation: Fetal Pediatr Pathol Subsets: MEDLINE
Academic Journal
Behrouzi A; Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.; Sakhaee F; Department of Mycobacteriology and Pulmonary Research, Pasteur Institute of Iran, Tehran, Iran.; Ghazanfari Jajin M; Department of Mycobacteriology and Pulmonary Research, Pasteur Institute of Iran, Tehran, Iran.; Ahmadi I; Department of Physiology, School of Medicine, Ilam University of Medical Science, Ilam, Iran.; Anvari E; Department of Physiology, School of Medicine, Ilam University of Medical Science, Ilam, Iran.; Sotoodehnejadnematalahi F; Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran. Electronic address: fattah212@gmail.com.; Fateh A; Department of Physiology, School of Medicine, Ilam University of Medical Science, Ilam, Iran; Microbiology Research Center (MRC), Pasteur Institute of Iran, Tehran, Iran. Electronic address: afateh2@gmail.com.
Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 9005353 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0023 (Electronic) Linking ISSN: 10434666 NLM ISO Abbreviation: Cytokine Subsets: MEDLINE
Academic Journal
Golshan-Tafti M; Department of Pediatrics, Islamic Azad University of Yazd, Yazd, Iran.; Bahrami R; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Dastgheib SA; Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.; Lookzadeh MH; Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Mirjalili SR; Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Yeganegi M; Department of Obstetrics and Gynecology, Iranshahr University of Medical Sciences, Iranshahr, Iran.; Marzbanrad Z; Department of Obstetrics and Gynecology, Iran University of Medical Sciences, Tehran, Iran.; Aghasipour M; Department of Cancer Biology, College of Medicine, University of Cincinnati, OH, USA.; Shahbazi A; Student Research Committee, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran.; Masoudi A; General Practitioner, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Noorishadkam M; Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Neamatzadeh H; Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Publisher: Informa Healthcare Country of Publication: England NLM ID: 101230972 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-3823 (Electronic) Linking ISSN: 15513815 NLM ISO Abbreviation: Fetal Pediatr Pathol Subsets: MEDLINE
Academic Journal
International Journal of Molecular Sciences. 24(13)
Academic Journal
Eligini S; Unit of Functional Proteomics, Metabolomics, and Network Analysis, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.; Savini C; Maria Cecilia Hospital, GVM Care and Research, 48033 Cotignola, Italy.; Dipartimento di Scienze Mediche e Chirurgiche, Alma Mater Studiorum, Università di Bologna, 40126 Bologna, Italy.; Ghilardi S; Unit of Functional Proteomics, Metabolomics, and Network Analysis, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.; Mallia A; Unit of Functional Proteomics, Metabolomics, and Network Analysis, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.; Dipartimento di Biologia e Biotecnologie 'Lazzaro Spallanzani', Università di Pavia, 27100 Pavia, Italy.; Vieceli Dalla Sega F; Maria Cecilia Hospital, GVM Care and Research, 48033 Cotignola, Italy.; Fortini F; Maria Cecilia Hospital, GVM Care and Research, 48033 Cotignola, Italy.; Mikus E; Maria Cecilia Hospital, GVM Care and Research, 48033 Cotignola, Italy.; Munno M; Unit of Functional Proteomics, Metabolomics, and Network Analysis, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.; Modafferi G; Unit of Functional Proteomics, Metabolomics, and Network Analysis, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.; Agostoni P; Heart Failure Unit, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.; Department of Clinical and Community Sciences, University of Milan, 20122 Milan, Italy.; Tremoli E; Maria Cecilia Hospital, GVM Care and Research, 48033 Cotignola, Italy.; Banfi C; Unit of Functional Proteomics, Metabolomics, and Network Analysis, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Autoimmunity Against Surfactant Protein B Is Associated with Pneumonitis During Checkpoint Blockade.
Academic Journal
Wyss N; Institute of Immunobiology.; Berner F; Institute of Immunobiology.; Walter V; Department of Dermatology, University Hospital Tübingen.; Jochum AK; Institute of Immunobiology.; Institute of Pathology.; Purde MT; Institute of Immunobiology.; Abdou MT; Institute of Immunobiology.; Sinnberg T; Department of Dermatology, University Hospital Tübingen.; iFIT Cluster of Excellence 2180 'Image-guided and Functionally Instructed Tumor Therapies,'.; Department of Dermatology, Venereology and Allergology, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Hofmeister K; Department of Dermatology, University Hospital Tübingen.; Pop OT; Institute of Immunobiology.; Hasan Ali O; Institute of Immunobiology.; Department of Dermatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.; Bauer J; iFIT Cluster of Excellence 2180 'Image-guided and Functionally Instructed Tumor Therapies,'.; Department of Peptide-based Immunotherapy, Institute of Immunology, University Hospital Tübingen, and.; Cheng HW; Institute of Immunobiology.; Lütge M; Institute of Immunobiology.; Klümper N; Institute for Experimental Oncology.; Center for Integrated Oncology Cologne/Bonn, and.; Department of Urology, University Hospital Bonn, Bonn, Germany.; Diem S; Department of Oncology and Hematology.; Kosaloglu-Yalcin Z; Center for Infectious Disease and Vaccine Research, La Jolla Institute for Immunology, La Jolla, California.; Zhang Y; Department of Pathology and Neuropathology, University Hospital and Comprehensive Cancer Center Tübingen, Tübingen, Germany.; Sellmer L; Department of Medicine V, University Hospital, and.; Comprehensive Pneumology Center Munich, German Center for Lung Research, Munich, Germany.; Macek B; Quantitative Proteomics, Interfaculty Institute of Cell Biology, Faculty of Science.; Karbach J; Department of Oncology and Hematology, Krankenhaus Nordwest, Frankfurt, Germany.; König D; Medical Oncology, University Hospital Basel, Basel, Switzerland.; Laboratory of Cancer Immunotherapy, Department of Biomedicine, University of Basel, Basel, Switzerland.; Läubli H; Medical Oncology, University Hospital Basel, Basel, Switzerland.; Laboratory of Cancer Immunotherapy, Department of Biomedicine, University of Basel, Basel, Switzerland.; Zender L; iFIT Cluster of Excellence 2180 'Image-guided and Functionally Instructed Tumor Therapies,'.; Department of Medical Oncology and Pneumology (Internal Medicine VIII), University Hospital Tübingen, University of Tübingen, Tübingen, Germany.; German Cancer Research Consortium, partner site Tübingen, German Cancer Research Center, Heidelberg, Germany.; Meyer BS; Research Unit Evolutionary Immunogenomics, Department of Biology, University of Hamburg, Hamburg, Germany.; Driessen C; Department of Oncology and Hematology.; Schürch CM; Department of Pathology and Neuropathology, University Hospital and Comprehensive Cancer Center Tübingen, Tübingen, Germany.; Jochum W; Institute of Pathology.; Amaral T; Skin Cancer Center, Department of Dermatology, and.; Heinzerling L; Department of Dermatology, Ludwig Maximilian University of Munich, Munich, Germany.; Cozzio A; Department of Dermatology, and.; Hegazy AN; Department of Gastroenterology, Infectious Diseases and Rheumatology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt- Universität zu Berlin, Berlin, Germany.; Deutsches Rheuma-Forschungszentrum, ein Institut der Leibniz-Gemeinschaft, Berlin, Germany.; Schneider T; Department of Pneumology, Kantonsspital St. Gallen, St. Gallen, Switzerland.; Brutsche MH; Department of Pneumology, Kantonsspital St. Gallen, St. Gallen, Switzerland.; Sette A; Center for Infectious Disease and Vaccine Research, La Jolla Institute for Immunology, La Jolla, California.; Department of Pathology, University of California, San Diego, La Jolla, California.; Lenz TL; Research Unit Evolutionary Immunogenomics, Department of Biology, University of Hamburg, Hamburg, Germany.; Walz J; iFIT Cluster of Excellence 2180 'Image-guided and Functionally Instructed Tumor Therapies,'.; Department of Peptide-based Immunotherapy, Institute of Immunology, University Hospital Tübingen, and.; Clinical Collaboration Unit Translational Immunology, Department of Internal Medicine, University Hospital Tübingen, Tübingen, Germany.; German Cancer Consortium and German Cancer Research Center, partner site Tübingen, Tübingen, Germany.; Rammensee HG; iFIT Cluster of Excellence 2180 'Image-guided and Functionally Instructed Tumor Therapies,'.; Institute of Immunology.; German Cancer Consortium and German Cancer Research Center, partner site Tübingen, Tübingen, Germany.; Früh M; Department of Oncology and Hematology.; Department of Oncology, University of Bern, Bern, Switzerland.; Jäger E; Department of Oncology and Hematology, Krankenhaus Nordwest, Frankfurt, Germany.; Becher B; Institute of Experimental Immunology, University of Zurich, Zurich, Switzerland; and.; Tufman A; Department of Medicine V, University Hospital, and.; Comprehensive Pneumology Center Munich, German Center for Lung Research, Munich, Germany.; Nuñez N; Facultad de Ciencias Químicas, Departamento de Bioquímica Clínica, Universidad Nacional de Córdoba y Centro de Investigaciones en Bioquímica Clínica e Inmunología, Córdoba, Argentina.; Joerger M; Department of Oncology and Hematology.; Flatz L; Institute of Immunobiology.; Department of Dermatology, and.; Department of Dermatology, University Hospital Tübingen.
Publisher: American Thoracic Society Country of Publication: United States NLM ID: 9421642 Publication Model: Print Cited Medium: Internet ISSN: 1535-4970 (Electronic) Linking ISSN: 1073449X NLM ISO Abbreviation: Am J Respir Crit Care Med Subsets: MEDLINE
Academic Journal
Thomas, Sylvia P. ; Domm, Jakob M. ; van Vloten, Jacob P. ; Xu, Liqun ; Vadivel, Arul ; Yates, Jacob G.E. ; Pei, Yanlong ; Ingrao, Joelle ; van Lieshout, Laura P. ; Jackson, Sergio R. ; Minott, Jessica A. ; Achuthan, Adithya ; Mehrani, Yeganeh ; McAusland, Thomas M. ; Zhang, Wei ; Karimi, Khalil ; Vaughan, Andrew E. ; de Jong, Jondavid ; Kang, Martin H. ; Thebaud, Bernard ; Wootton, Sarah K.
In Molecular Therapy 6 December 2023 31(12):3457-3477
Academic Journal
尹晓娟; 李明霞; 史源; 梅花; 张晓媛; 朱艳萍; 霍梦月; 封志纯; Yin Xiaojuan; Li Mingxia; Shi Yuan; Mei Hua; Zhang Xiaoyuan; Zhu Yanping; Huo Mengyue; Feng Zhichun
发育医学电子杂志 / Journal of Developmental Medicine(Electronic Version). 12(1):25-29
Academic Journal
BMC Pulmonary Medicine. 21(1)
Academic Journal
Undiagnosed Diseases Network; Huang, Huiyan; Pan, Jiehong; Spielberg, David R.; Hanchard, Neil A.; Scott, Daryl A.; Burrage, Lindsay C.; Dai, Hongzheng; Murdock, David; Rosenfeld, Jill A.; Mohammad, Ariz; Huang, Tao; Lindsey, Anika G.; Kim, Hyori; Chen, Jian; Ramu, Avinash; Morrison, Stephanie A.; Dawson, Zachary D.; Hu, Alex Z.; Tycksen, Eric; Silverman, Gary A.; Baldridge, Dustin; Wambach, Jennifer A.; Pak, Stephen C.; Brody, Steven L.; Schedl, Tim
Proceedings of the National Academy of Sciences of the United States of America, 2022 Feb 01. 119(6), 1-10.
Report
Epidemiology of Surfactant Protein -B Deficiency
Merchak A, Janssen DJ, Bohlin K, Patterson BW, Zimmermann LJ, Carnielli VP, Hamvas A. Endogenous pulmonarysurfactant metabolism is not affected by mode of ventilation in premature infants with respiratory distress syndrome. J Pediatr. 2002 Jun;140(6):693-8. doi: 10.1067/mpd.2002.124320.
Nogee LM. Genetic mechanisms ofsurfactant deficiency. Biol Neonate. 2004;85(4):314-8. doi: 10.1159/000078171. Epub 2004 Jun 8.
Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, Deutsch G, Nogee LM. A common mutation in thesurfactant protein C gene associated with lung disease. J Pediatr. 2005 Mar;146(3):370-5. doi: 10.1016/j.jpeds.2004.10.028.
Kingsmore SF, Cole FS. The Role of Genome Sequencing in Neonatal Intensive Care Units. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:427-448. doi: 10.1146/annurev-genom-120921-103442. Epub 2022 Jun 8.
Wambach JA, Nogee LM, Cole FS. First Steps toward Personalized Therapies for ABCA3 Deficiency. Am J Respir Cell Mol Biol. 2022 Apr;66(4):349-350. doi: 10.1165/rcmb.2021-0405ED. No abstract available.
Nogee LM. Abnormal expression ofsurfactant protein C and lung disease. Am J Respir Cell Mol Biol. 2002 Jun;26(6):641-4. doi: 10.1165/ajrcmb.26.6.f241. No abstract available.
Cole FS.Surfactant protein B : unambiguously necessary for adult pulmonary function. Am J Physiol Lung Cell Mol Physiol. 2003 Sep;285(3):L540-2. doi: 10.1152/ajplung.00111.2003. No abstract available.
Hamvas A, Madden KK, Nogee LM, Trusgnich MA, Wegner DJ, Heins HB, Cole FS. Informed consent for genetic research. Arch Pediatr Adolesc Med. 2004 Jun;158(6):551-5. doi: 10.1001/archpedi.158.6.551.
Hamvas A, Nogee LM, White FV, Schuler P, Hackett BP, Huddleston CB, Mendeloff EN, Hsu FF, Wert SE, Gonzales LW, Beers MF, Ballard PL. Progressive lung disease andsurfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol. 2004 Jun;30(6):771-6. doi: 10.1165/rcmb.2003-0323OC. Epub 2003 Dec 4.
Hamvas A, Wegner DJ, Trusgnich MA, Madden K, Heins H, Liu Y, Rice T, An P, Watkins-Torry J, Cole FS. Genetic variant characterization in intron 4 of thesurfactant protein B gene. Hum Mutat. 2005 Nov;26(5):494-5. doi: 10.1002/humu.9378.
Palomar LM, Nogee LM, Sweet SC, Huddleston CB, Cole FS, Hamvas A. Long-term outcomes after infant lung transplantation forsurfactant protein B deficiency related to other causes of respiratory failure. J Pediatr. 2006 Oct;149(4):548-53. doi: 10.1016/j.jpeds.2006.06.004.
Cole FS, Nogee LM, Hamvas A. Defects insurfactant synthesis: clinical implications. Pediatr Clin North Am. 2006 Oct;53(5):911-27, ix. doi: 10.1016/j.pcl.2006.08.006.
Wilson RK, Ley TJ, Cole FS, Milbrandt JD, Clifton S, Fulton L, Fewell G, Minx P, Sun H, McLellan M, Pohl C, Mardis ER. Mutational profiling in the human genome. Cold Spring Harb Symp Quant Biol. 2003;68:23-9. doi: 10.1101/sqb.2003.68.23. No abstract available.
Wegner DJ, Hertzberg T, Heins HB, Elmberger G, MacCoss MJ, Carlson CS, Nogee LM, Cole FS, Hamvas A. A major deletion in thesurfactant protein -B gene causing lethal respiratory distress. Acta Paediatr. 2007 Apr;96(4):516-20. doi: 10.1111/j.1651-2227.2006.00188.x.
Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, Kasai Y, An P, Mardis ER, Wilson RK, Cole FS. Comprehensive genetic variant discovery in thesurfactant protein B gene. Pediatr Res. 2007 Aug;62(2):170-5. doi: 10.1203/PDR.0b013e3180a03232.
Saugstad OD, Hansen TW, Ronnestad A, NakstadB , Tollofsrud PA, Reinholt F, Hamvas A, Coles FS, Dean M, Wert SE, Whitsett JA, Nogee LM. Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease. Acta Paediatr. 2007 Feb;96(2):185-90. doi: 10.1111/j.1651-2227.2007.00016.x.
Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A. Population and disease-based prevalence of the common mutations associated withsurfactant deficiency. Pediatr Res. 2008 Jun;63(6):645-9. doi: 10.1203/PDR.0b013e31816fdbeb.
McBee AD, Wegner DJ, Carlson CS, Wambach JA, Yang P, Heins HB, Saugstad OD, Trusgnich MA, Watkins-Torry J, Nogee LM, Henderson H, Cole FS, Hamvas A. Recombination as a mechanism for sporadic mutation in thesurfactant protein -C gene. Pediatr Pulmonol. 2008 May;43(5):443-50. doi: 10.1002/ppul.20782.
Hamvas A, Heins HB, Guttentag SH, Wegner DJ, Trusgnich MA, Bennet KW, Yang P, Carlson CS, An P, Cole FS. Developmental and genetic regulation of humansurfactant protein B in vivo. Neonatology. 2009;95(2):117-24. doi: 10.1159/000153095. Epub 2008 Sep 6.
Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD. Quantification of rare allelic variants from pooled genomic DNA. Nat Methods. 2009 Apr;6(4):263-5. doi: 10.1038/nmeth.1307. Epub 2009 Mar 1.
Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, BennettsB , McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS. Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein -B and ATP binding cassette, subfamily a, member 3 genes. J Pediatr. 2009 Dec;155(6):854-859.e1. doi: 10.1016/j.jpeds.2009.06.006. Epub 2009 Aug 3.
Tomazela DM, Patterson BW, Hanson E, Spence KL, Kanion TB, Salinger DH, Vicini P, Barret H, Heins HB, Cole FS, Hamvas A, MacCoss MJ. Measurement of humansurfactant protein -B turnover in vivo from tracheal aspirates using targeted proteomics. Anal Chem. 2010 Mar 15;82(6):2561-7. doi: 10.1021/ac1001433.
Wambach JA, Yang P, Wegner DJ, An P, Hackett BP, Cole FS, Hamvas A.Surfactant protein -C promoter variants associated with neonatal respiratory distress syndrome reduce transcription. Pediatr Res. 2010 Sep;68(3):216-20. doi: 10.1203/PDR.0b013e3181eb5d68.
Anadkat JS, Kuzniewicz MW, Chaudhari BP, Cole FS, Hamvas A. Increased risk for respiratory distress among white, male, late preterm and term infants. J Perinatol. 2012 Oct;32(10):780-5. doi: 10.1038/jp.2011.191. Epub 2012 Jan 5.
Agrawal A, Hamvas A, Cole FS, Wambach JA, Wegner D, Coghill C, Harrison K, Nogee LM. An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res. 2012 Jun;71(6):633-7. doi: 10.1038/pr.2012.21. Epub 2012 Feb 15.
Bereman MS, Tomazela DM, Heins HS, Simonato M, Cogo PE, Hamvas A, Patterson BW, Cole FS, MacCoss MJ. A method to determine the kinetics of multipleproteins in human infants with respiratory distress syndrome. Anal Bioanal Chem. 2012 Jun;403(8):2397-402. doi: 10.1007/s00216-012-5953-3. Epub 2012 Apr 14.
Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19.
Hamvas A, Deterding RR, Wert SE, White FV, Dishop MK, Alfano DN, Halbower AC, PlanerB , Stephan MJ, Uchida DA, Williames LD, Rosenfeld JA, Lebel RR, Young LR, Cole FS, Nogee LM. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest. 2013 Sep;144(3):794-804. doi: 10.1378/chest.12-2502.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, ShivannaB , Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12.
Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC.
Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, Cole FS. Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. J Pediatr. 2014 Jun;164(6):1316-21.e3. doi: 10.1016/j.jpeds.2014.02.021. Epub 2014 Mar 20.
Jackson T, Wegner DJ, White FV, Hamvas A, Cole FS, Wambach JA. Respiratory failure in a term infant with cis and trans mutations in ABCA3. J Perinatol. 2015 Mar;35(3):231-2. doi: 10.1038/jp.2014.236.
Coghlan MA, Shifren A, Huang HJ, Russell TD, Mitra RD, Zhang Q, Wegner DJ, Cole FS, Hamvas A. Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. BMJ Open Respir Res. 2014 Dec 10;1(1):e000057. doi: 10.1136/bmjresp-2014-000057. eCollection 2014.
Ramos EI, Bien-Willner GA, Li J, Hughes AE, Giacalone J, Chasnoff S, Kulkarni S, Parmacek M, Cole FS, Druley TE. Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly. Clin Genet. 2014 May;85(5):423-32. doi: 10.1111/cge.12197. Epub 2013 Jun 18.
van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, Cole FS. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. BMC Med Genet. 2013 Oct 8;14:106. doi: 10.1186/1471-2350-14-106.
Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, Stankiewicz P. Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2014 Aug;164A(8):2013-9. doi: 10.1002/ajmg.a.36606. Epub 2014 May 19.
Chen YJ, Wambach JA, DePass K, Wegner DJ, Chen SK, Zhang QY, Heins H, Cole FS, Hamvas A. Population-based frequency ofsurfactant dysfunction mutations in a native Chinese cohort. World J Pediatr. 2016 May;12(2):190-5. doi: 10.1007/s12519-015-0047-x. Epub 2015 Nov 7.
Shen CL, Zhang Q, Meyer Hudson J, Cole FS, Wambach JA. Genetic Factors Contribute to Risk for Neonatal Respiratory Distress Syndrome among Moderately Preterm, Late Preterm, and Term Infants. J Pediatr. 2016 May;172:69-74.e2. doi: 10.1016/j.jpeds.2016.01.031. Epub 2016 Feb 28.
Wambach JA, Yang P, Wegner DJ, Heins HB, Kaliberova LN, Kaliberov SA, Curiel DT, White FV, Hamvas A, Hackett BP, Cole FS. Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome. Am J Respir Cell Mol Biol. 2016 Nov;55(5):716-721. doi: 10.1165/rcmb.2016-0008OC.
Eldridge WB, Zhang Q, Faro A, Sweet SC, Eghtesady P, Hamvas A, Cole FS, Wambach JA. Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders ofSurfactant Metabolism. J Pediatr. 2017 May;184:157-164.e2. doi: 10.1016/j.jpeds.2017.01.017. Epub 2017 Feb 16.
Stout MJ, Demaree D, Merfeld E, Tuuli MG, Wambach JA, Cole FS, Cahill AG. Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth. Am J Perinatol. 2018 Apr;35(5):494-502. doi: 10.1055/s-0037-1608804. Epub 2017 Nov 28.
Towe CT, White FV, Grady RM, Sweet SC, Eghtesady P, Wegner DJ, Sen P, Szafranski P, Stankiewicz P, Hamvas A, Cole FS, Wambach JA. Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. J Pediatr. 2018 Mar;194:158-164.e1. doi: 10.1016/j.jpeds.2017.10.026. Epub 2017 Dec 1.
Chen YJ, Meyer J, Wambach JA, DePass K, Wegner DJ, Fan X, Zhang QY, Hillary H, Cole FS, Hamvas A. Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population. World J Pediatr. 2018 Feb;14(1):52-56. doi: 10.1007/s12519-017-0109-3. Epub 2018 Feb 6.
Attarian SJ, Leibel SL, Yang P, Alfano DN, Hackett BP, Cole FS, Hamvas A. Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC. Pediatr Res. 2018 Sep;84(3):419-425. doi: 10.1038/pr.2018.30. Epub 2018 Apr 11.
Thomas BJ, Wight IE, Chou WYY, Moreno M, Dawson Z, Homayouni A, Huang H, Kim H, Jia H, Buland JR, Wambach JA, Cole FS, Pak SC, Silverman GA, Luke CJ. CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans. PLoS One. 2019 Mar 26;14(3):e0214257. doi: 10.1371/journal.pone.0214257. eCollection 2019.
Wambach JA, Yang P, Wegner DJ, Heins HB, Luke C, Li F, White FV, Cole FS. Functional Genomics of ABCA3 Variants. Am J Respir Cell Mol Biol. 2020 Oct;63(4):436-443. doi: 10.1165/rcmb.2020-0034MA.
Alysandratos KD, Russo SJ, Petcherski A, Taddeo EP, Acin-Perez R, Villacorta-Martin C, Jean JC, Mulugeta S, Rodriguez LR, Blum BC, Hekman RM, Hix OT, Minakin K, Vedaie M, Kook S, Tilston-Lunel AM, Varelas X, Wambach JA, Cole FS, Hamvas A, Young LR, Liesa M, Emili A, Guttentag SH, Shirihai OS, Beers MF, Kotton DN. Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease. Cell Rep. 2021 Aug 31;36(9):109636. doi: 10.1016/j.celrep.2021.109636.
Merchak A, Janssen DJ, Bohlin K, Patterson BW, Zimmermann LJ, Carnielli VP, Hamvas A. Endogenous pulmonary
Nogee LM. Genetic mechanisms of
Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, Deutsch G, Nogee LM. A common mutation in the
Kingsmore SF, Cole FS. The Role of Genome Sequencing in Neonatal Intensive Care Units. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:427-448. doi: 10.1146/annurev-genom-120921-103442. Epub 2022 Jun 8.
Wambach JA, Nogee LM, Cole FS. First Steps toward Personalized Therapies for ABCA3 Deficiency. Am J Respir Cell Mol Biol. 2022 Apr;66(4):349-350. doi: 10.1165/rcmb.2021-0405ED. No abstract available.
Nogee LM. Abnormal expression of
Cole FS.
Hamvas A, Madden KK, Nogee LM, Trusgnich MA, Wegner DJ, Heins HB, Cole FS. Informed consent for genetic research. Arch Pediatr Adolesc Med. 2004 Jun;158(6):551-5. doi: 10.1001/archpedi.158.6.551.
Hamvas A, Nogee LM, White FV, Schuler P, Hackett BP, Huddleston CB, Mendeloff EN, Hsu FF, Wert SE, Gonzales LW, Beers MF, Ballard PL. Progressive lung disease and
Hamvas A, Wegner DJ, Trusgnich MA, Madden K, Heins H, Liu Y, Rice T, An P, Watkins-Torry J, Cole FS. Genetic variant characterization in intron 4 of the
Palomar LM, Nogee LM, Sweet SC, Huddleston CB, Cole FS, Hamvas A. Long-term outcomes after infant lung transplantation for
Cole FS, Nogee LM, Hamvas A. Defects in
Wilson RK, Ley TJ, Cole FS, Milbrandt JD, Clifton S, Fulton L, Fewell G, Minx P, Sun H, McLellan M, Pohl C, Mardis ER. Mutational profiling in the human genome. Cold Spring Harb Symp Quant Biol. 2003;68:23-9. doi: 10.1101/sqb.2003.68.23. No abstract available.
Wegner DJ, Hertzberg T, Heins HB, Elmberger G, MacCoss MJ, Carlson CS, Nogee LM, Cole FS, Hamvas A. A major deletion in the
Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, Kasai Y, An P, Mardis ER, Wilson RK, Cole FS. Comprehensive genetic variant discovery in the
Saugstad OD, Hansen TW, Ronnestad A, Nakstad
Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A. Population and disease-based prevalence of the common mutations associated with
McBee AD, Wegner DJ, Carlson CS, Wambach JA, Yang P, Heins HB, Saugstad OD, Trusgnich MA, Watkins-Torry J, Nogee LM, Henderson H, Cole FS, Hamvas A. Recombination as a mechanism for sporadic mutation in the
Hamvas A, Heins HB, Guttentag SH, Wegner DJ, Trusgnich MA, Bennet KW, Yang P, Carlson CS, An P, Cole FS. Developmental and genetic regulation of human
Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD. Quantification of rare allelic variants from pooled genomic DNA. Nat Methods. 2009 Apr;6(4):263-5. doi: 10.1038/nmeth.1307. Epub 2009 Mar 1.
Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts
Tomazela DM, Patterson BW, Hanson E, Spence KL, Kanion TB, Salinger DH, Vicini P, Barret H, Heins HB, Cole FS, Hamvas A, MacCoss MJ. Measurement of human
Wambach JA, Yang P, Wegner DJ, An P, Hackett BP, Cole FS, Hamvas A.
Anadkat JS, Kuzniewicz MW, Chaudhari BP, Cole FS, Hamvas A. Increased risk for respiratory distress among white, male, late preterm and term infants. J Perinatol. 2012 Oct;32(10):780-5. doi: 10.1038/jp.2011.191. Epub 2012 Jan 5.
Agrawal A, Hamvas A, Cole FS, Wambach JA, Wegner D, Coghill C, Harrison K, Nogee LM. An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res. 2012 Jun;71(6):633-7. doi: 10.1038/pr.2012.21. Epub 2012 Feb 15.
Bereman MS, Tomazela DM, Heins HS, Simonato M, Cogo PE, Hamvas A, Patterson BW, Cole FS, MacCoss MJ. A method to determine the kinetics of multiple
Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19.
Hamvas A, Deterding RR, Wert SE, White FV, Dishop MK, Alfano DN, Halbower AC, Planer
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna
Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC.
Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, Cole FS. Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. J Pediatr. 2014 Jun;164(6):1316-21.e3. doi: 10.1016/j.jpeds.2014.02.021. Epub 2014 Mar 20.
Jackson T, Wegner DJ, White FV, Hamvas A, Cole FS, Wambach JA. Respiratory failure in a term infant with cis and trans mutations in ABCA3. J Perinatol. 2015 Mar;35(3):231-2. doi: 10.1038/jp.2014.236.
Coghlan MA, Shifren A, Huang HJ, Russell TD, Mitra RD, Zhang Q, Wegner DJ, Cole FS, Hamvas A. Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. BMJ Open Respir Res. 2014 Dec 10;1(1):e000057. doi: 10.1136/bmjresp-2014-000057. eCollection 2014.
Ramos EI, Bien-Willner GA, Li J, Hughes AE, Giacalone J, Chasnoff S, Kulkarni S, Parmacek M, Cole FS, Druley TE. Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly. Clin Genet. 2014 May;85(5):423-32. doi: 10.1111/cge.12197. Epub 2013 Jun 18.
van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, Cole FS. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. BMC Med Genet. 2013 Oct 8;14:106. doi: 10.1186/1471-2350-14-106.
Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, Stankiewicz P. Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2014 Aug;164A(8):2013-9. doi: 10.1002/ajmg.a.36606. Epub 2014 May 19.
Chen YJ, Wambach JA, DePass K, Wegner DJ, Chen SK, Zhang QY, Heins H, Cole FS, Hamvas A. Population-based frequency of
Shen CL, Zhang Q, Meyer Hudson J, Cole FS, Wambach JA. Genetic Factors Contribute to Risk for Neonatal Respiratory Distress Syndrome among Moderately Preterm, Late Preterm, and Term Infants. J Pediatr. 2016 May;172:69-74.e2. doi: 10.1016/j.jpeds.2016.01.031. Epub 2016 Feb 28.
Wambach JA, Yang P, Wegner DJ, Heins HB, Kaliberova LN, Kaliberov SA, Curiel DT, White FV, Hamvas A, Hackett BP, Cole FS. Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome. Am J Respir Cell Mol Biol. 2016 Nov;55(5):716-721. doi: 10.1165/rcmb.2016-0008OC.
Eldridge WB, Zhang Q, Faro A, Sweet SC, Eghtesady P, Hamvas A, Cole FS, Wambach JA. Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of
Stout MJ, Demaree D, Merfeld E, Tuuli MG, Wambach JA, Cole FS, Cahill AG. Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth. Am J Perinatol. 2018 Apr;35(5):494-502. doi: 10.1055/s-0037-1608804. Epub 2017 Nov 28.
Towe CT, White FV, Grady RM, Sweet SC, Eghtesady P, Wegner DJ, Sen P, Szafranski P, Stankiewicz P, Hamvas A, Cole FS, Wambach JA. Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. J Pediatr. 2018 Mar;194:158-164.e1. doi: 10.1016/j.jpeds.2017.10.026. Epub 2017 Dec 1.
Chen YJ, Meyer J, Wambach JA, DePass K, Wegner DJ, Fan X, Zhang QY, Hillary H, Cole FS, Hamvas A. Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population. World J Pediatr. 2018 Feb;14(1):52-56. doi: 10.1007/s12519-017-0109-3. Epub 2018 Feb 6.
Attarian SJ, Leibel SL, Yang P, Alfano DN, Hackett BP, Cole FS, Hamvas A. Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC. Pediatr Res. 2018 Sep;84(3):419-425. doi: 10.1038/pr.2018.30. Epub 2018 Apr 11.
Thomas BJ, Wight IE, Chou WYY, Moreno M, Dawson Z, Homayouni A, Huang H, Kim H, Jia H, Buland JR, Wambach JA, Cole FS, Pak SC, Silverman GA, Luke CJ. CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans. PLoS One. 2019 Mar 26;14(3):e0214257. doi: 10.1371/journal.pone.0214257. eCollection 2019.
Wambach JA, Yang P, Wegner DJ, Heins HB, Luke C, Li F, White FV, Cole FS. Functional Genomics of ABCA3 Variants. Am J Respir Cell Mol Biol. 2020 Oct;63(4):436-443. doi: 10.1165/rcmb.2020-0034MA.
Alysandratos KD, Russo SJ, Petcherski A, Taddeo EP, Acin-Perez R, Villacorta-Martin C, Jean JC, Mulugeta S, Rodriguez LR, Blum BC, Hekman RM, Hix OT, Minakin K, Vedaie M, Kook S, Tilston-Lunel AM, Varelas X, Wambach JA, Cole FS, Hamvas A, Young LR, Liesa M, Emili A, Guttentag SH, Shirihai OS, Beers MF, Kotton DN. Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease. Cell Rep. 2021 Aug 31;36(9):109636. doi: 10.1016/j.celrep.2021.109636.
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