المؤلفون: Wambach JA, Marshall BA, Koster JC, White NH, Nichols CG

المصدر: Pediatric Diabetes; Jun2010, Vol. 11 Issue 4, p286-288, 3p

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المؤلفون: Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, Saint Louis, Missouri, USA., Vece TJ; Department of Pediatrics, University of North Carolina-Chapel Hill, Chapel Hill, USA.

المصدر: Pediatric pulmonology [Pediatr Pulmonol] 2024 Sep; Vol. 59 (9), pp. 2233-2235. Date of Electronic Publication: 2024 Apr 23.

نوع المنشور: Editorial

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

مواضيع طبية MeSH: Lung Diseases, Interstitial*/diagnosis , Lung Diseases, Interstitial*/therapy, Humans ; Child ; Biomedical Research

المؤلفون: Nevel RJ; Department of Child Health, Pediatric Pulmonary Medicine, University of Missouri Children's Hospital, Columbia, Missouri, USA., Deutsch GH; Department of Laboratory Medicine and Pathology, Seattle Children's Hospital, University of Washington Medical Center, Seattle, Washington, USA., Craven D; Pediatric Pulmonology, Rainbow Babies & Children's Hospital, Case School of Medicine, Cleveland, Ohio, USA., Deterding R; Section of Pediatric Pulmonology, Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital of Colorado, Aurora, Colorado, USA., Fishman MP; Division of Pulmonary Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Division of Newborn Medicine, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri, USA., Casey A; Division of Pulmonary Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Krone K; Division of Pulmonary Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Liptzin DR; Section of Pediatric Pulmonology, Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital of Colorado, Aurora, Colorado, USA., O'Connor MG; Department of Pediatrics, Division of Pediatric Pulmonology, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Kurland G; Department of Pediatrics, Division of Pulmonology, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Taylor JB; Department of Pediatrics, Division of Pulmonology, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Gower WA; Department of Pediatrics, Division of Pediatric Pulmonology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA., Hagood JS; Department of Pediatrics, Division of Pediatric Pulmonology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA., Conrad C; Pulmonary Medicine, Pediatrics Stanford University School of Medicine, Palo Alto, California, USA., Tam-Williams JB; Pulmonary and Sleep Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA., Fiorino EK; Department of Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Steven and Alexandra Cohen Children's Medical Center, New York, New York, USA., Goldfarb S; Department of Pediatrics, School of Medicine, Division of Pulmonary and Sleep Medicine, University of Minnesota, Minneapolis, Minnesota, USA., Sadreameli SC; Division of Pediatric Respiratory Sciences, Johns Hopkins University, Bethesda, Maryland, USA., Nogee LM; Division of Pediatric Respiratory Sciences, Johns Hopkins University, Bethesda, Maryland, USA., Montgomery G; Pediatric Pulmonology, Department of Pediatrics, Indiana University School of Medicine, Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA., Hamvas A; Pediatrics, Ann and Robert H Lurie Children's Hospital of Chicago Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Laguna TA; Pediatrics, Ann and Robert H Lurie Children's Hospital of Chicago Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Bansal M; Division of Pediatric Pulmonology/Sleep Medicine, Keck School of Medicine, Children's Hospital Los Angeles, University of Southern California, Los Angeles, California, USA., Lew C; Division of Pediatric Pulmonology/Sleep Medicine, Keck School of Medicine, Children's Hospital Los Angeles, University of Southern California, Los Angeles, California, USA., Santiago M; Department of Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Steven and Alexandra Cohen Children's Medical Center, New York, New York, USA., Popova A; Pediatrics, University of Michigan C. S. Mott Children's Hospital, Ann Arbor, Michigan, USA., De A; Division of Pediatric Pulmonology, Columbia University Irving Medical Center, Vagelos College of Physicians and Surgeons, New York, New York, USA., Chan M; Pediatric Pulmonology, University of California San Francisco Benioff Children's Hospital, San Francisco, California, USA., Powers MR; Pediatrics, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, Oregon, USA., Josephson MB; Department of Pediatrics, Division of Pulmonary and Sleep Medicine, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Camburn D; Department of Pediatrics, Division of Pulmonary and Sleep Medicine, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Voss L; Department of Pediatrics, Division of Pulmonary and Sleep Medicine, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Li Y; Department of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Young LR; Department of Pediatrics, Division of Pulmonary and Sleep Medicine, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

مؤلفون مشاركون: chILD Registry Collaborative

المصدر: Pediatric pulmonology [Pediatr Pulmonol] 2024 Sep; Vol. 59 (9), pp. 2236-2246. Date of Electronic Publication: 2023 Jul 04.

نوع المنشور: Journal Article; Observational Study; Multicenter Study

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

مواضيع طبية MeSH: Registries* , Lung Diseases, Interstitial*/therapy , Lung Diseases, Interstitial*/diagnosis , Lung Diseases, Interstitial*/epidemiology, Humans ; Child ; United States ; Male ; Female ; Child, Preschool ; Infant ; Longitudinal Studies ; Adolescent ; Research Design ; Prospective Studies ; Cohort Studies

المؤلفون: Moulton MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Atala K; Center for Translational Research, Scottish Rite for Children, Dallas, TX., Zheng Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Current address: State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Faculty of Medicine and Life Sciences, Xiamen University, Xiamen, China., Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Grange DK; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO., Lin WW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO., Duker AL; Skeletal Dysplasia Program, Orthogenetics, Nemours Children's Hospital, Wilmington, DE., Bober MB; Skeletal Dysplasia Program, Orthogenetics, Nemours Children's Hospital, Wilmington, DE., Kratz L; Kennedy Krieger Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Wise CA; Center for Translational Research, Scottish Rite for Children, Dallas, TX; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX; Department of Orthopedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX., Oxendine I; Center for Translational Research, Scottish Rite for Children, Dallas, TX., Khanshour A; Center for Translational Research, Scottish Rite for Children, Dallas, TX., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO., Rios J; Center for Translational Research, Scottish Rite for Children, Dallas, TX; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX; Department of Orthopedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX. Electronic address: hbellen@bcm.edu.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep; Vol. 26 (9), pp. 101174. Date of Electronic Publication: 2024 Jun 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Sterol Regulatory Element Binding Protein 2*/genetics , Sterol Regulatory Element Binding Protein 2*/metabolism , Fibroblasts*/metabolism , Mutation, Missense*/genetics, Humans ; Animals ; Male ; Female ; Lipid Droplets/metabolism ; Phenotype ; Endoplasmic Reticulum/metabolism ; Endoplasmic Reticulum/genetics ; Serine Endopeptidases ; Proprotein Convertases

المؤلفون: Grange DK; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Sisco KA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Stone SI; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Sheehan JH; John T. Milliken Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA., Ramsey KM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Rauen KA; Department of Pediatrics, University of California Davis, Sacramento, California, USA., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug 21, pp. e63854. Date of Electronic Publication: 2024 Aug 21.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

المؤلفون: Dodd DO; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Mechaussier S; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Yeyati PL; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., McPhie F; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Anderson JR; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA., Khoo CJ; School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China., Shoemark A; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK., Gupta DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA., Attard T; Wellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3BF, UK., Zariwala MA; Department of Pathology and Laboratory Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA., Legendre M; Molecular Genetics Laboratory, Sorbonne Université, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Paris 75012, France.; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France., Bracht D; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany., Wallmeier J; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany., Gui M; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA., Fassad MR; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria 21561, Egypt., Parry DA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Tennant PA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Meynert A; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Wheway G; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK., Fares-Taie L; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Black HA; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; South East of Scotland Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK., Mitri-Frangieh R; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France.; Biomechanics and Respiratory Apparatus, IMRB, U955 INSERM - Université Paris Est Créteil, CNRS ERL 7000, Créteil 94000, France., Faucon C; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France., Kaplan J; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Patel M; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; MRC Prion Unit, Institute of Prion Diseases, University College London, London W1W 7FF, UK., McKie L; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Megaw R; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Princess Alexandra Eye Pavilion, Edinburgh EH3 9HA, UK., Gatsogiannis C; Center for Soft Nanoscience and Institute of Medical Physics and Biophysics, Münster 48149, Germany., Mohamed MA; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; Biochemistry Division, Chemistry Department, Faculty of Science, Zagazig University, Ash Sharqiyah 44519, Egypt., Aitken S; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Gautier P; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Reinholt FR; Core Facility for Electron Microscopy, Department of Pathology, Oslo University Hospital-Rikshospitalet, Oslo 0372, Norway., Hirst RA; Centre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester LE1 9HN, UK., O'Callaghan C; Centre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester LE1 9HN, UK., Heimdal K; Department of Medical Genetics, Oslo University Hospital, Oslo 0407, Norway., Bottier M; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK., Escudier E; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France.; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France., Crowley S; Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo 0407, Norway., Descartes M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA., Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029-6504, New York, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, NY 55905, USA., Kenia P; Department of Paediatric Respiratory Medicine, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK., Amiel J; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris 75015, France.; Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France., Bacci GM; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Calogero C; Pediatric Pulmonary Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Palazzo V; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Tiberi L; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Blümlein U; Carl-Thiem-Klinikum Cottbus, Cottbus 03048, Germany., Rogers A; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK., Wambach JA; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA., Wegner DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA., Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA., Kenna M; Department of Otolaryngology, Boston Children's Hospital, Boston, MA 02115, USA., Rosenfeld M; Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Research Institute, Seattle, WA 98015, USA., Holm IA; Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115 USA., Quigley A; Department of Paediatric Radiology, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK., Hall EA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Murphy LC; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Cassidy DM; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK., von Kriegsheim A; Cancer Research UK Edinburgh Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Papon JF; ENT Department, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Saclay University, Le Kremlin-Bicêtre 94270, France., Pasquier L; Medical Genetics Department, CHU Pontchaillou, Rennes 35033, France., Murris MS; Department of Pulmonology, Transplantation, and Cystic Fibrosis Centre, Larrey Hospital, Toulouse 31400, France., Chalmers JD; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK., Hogg C; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK., Macleod KA; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK., Urquhart DS; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.; Department of Child Life and Health, University of Edinburgh, Edinburgh EH16 4TJ, UK., Unger S; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.; Department of Child Life and Health, University of Edinburgh, Edinburgh EH16 4TJ, UK., Aitman TJ; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Amselem S; Molecular Genetics Laboratory, Sorbonne Université, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Paris 75012, France.; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France., Leigh MW; Department of Pediatrics, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA., Knowles MR; Department of Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA., Omran H; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany., Mitchison HM; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK., Brown A; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA., Marsh JA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Welburn JPI; Wellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3BF, UK., Ti SC; School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China., Horani A; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA., Rozet JM; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Perrault I; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Mill P; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.

مؤلفون مشاركون: Scottish Genomes Partnership16, Genomics England Research Consortium45, Undiagnosed Diseases Network46

المصدر: Science (New York, N.Y.) [Science] 2024 Apr 26; Vol. 384 (6694), pp. eadf5489. Date of Electronic Publication: 2024 Apr 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Axoneme*/metabolism , Centrioles*/metabolism , Cilia*/metabolism , Ciliary Motility Disorders*/genetics , Ciliary Motility Disorders*/metabolism , Tubulin*/genetics , Tubulin*/metabolism, Animals ; Humans ; Mice ; Mutation ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Male ; Female ; Mice, Knockout

المؤلفون: Liptzin DR; Department of Pediatrics, Section of Pulmonary and Sleep Medicine, University of Colorado, School of Medicine, Aurora, Colorado, USA.; Department of Pediatrics, Division of Pulmonary and Sleep Medicine, University of Washington, School of Medicine, Seattle, Washington, USA., McGraw MD; Department of Pediatrics, Division of Pulmonology, University of Rochester Medical Center, Rochester, New York, USA., Stidham T; Department of Pediatrics, Division of Pediatric Critical Care, Logan Health Medical Center, Kalispell, Montana, USA., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, USA., Deterding RR; Department of Pediatrics, Section of Pulmonary and Sleep Medicine, University of Colorado, School of Medicine, Aurora, Colorado, USA.

المصدر: Pediatric pulmonology [Pediatr Pulmonol] 2024 Feb; Vol. 59 (2), pp. 488-491. Date of Electronic Publication: 2023 Dec 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

مواضيع طبية MeSH: Pulmonary Surfactant-Associated Protein C*/genetics, Infant ; Humans ; Mutation

المؤلفون: Sun YL; Center for Regenerative Medicine of Boston University and Boston Medical Center, Boston, Massachusetts, USA.; The Pulmonary Center and Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA., Hennessey EE; Center for Regenerative Medicine of Boston University and Boston Medical Center, Boston, Massachusetts, USA.; The Pulmonary Center and Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA., Heins H; Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, USA., Yang P; Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, USA., Villacorta-Martin C; Center for Regenerative Medicine of Boston University and Boston Medical Center, Boston, Massachusetts, USA., Kwan J; Departments of Biology and Biochemistry, Boston University School of Medicine, Boston, Massachusetts, USA., Gopalan K; University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., James M; Center for Regenerative Medicine of Boston University and Boston Medical Center, Boston, Massachusetts, USA., Emili A; Departments of Biology and Biochemistry, Boston University School of Medicine, Boston, Massachusetts, USA., Cole FS; Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, USA., Wambach JA; Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, USA., Kotton DN; Center for Regenerative Medicine of Boston University and Boston Medical Center, Boston, Massachusetts, USA.; The Pulmonary Center and Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, USA.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Jan 16; Vol. 134 (2). Date of Electronic Publication: 2024 Jan 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters*/genetics , ATP-Binding Cassette Transporters*/metabolism , Lung Diseases, Interstitial*/genetics , Lung Diseases, Interstitial*/metabolism , Lung Diseases, Interstitial*/pathology , Pluripotent Stem Cells*/metabolism, Humans ; Alveolar Epithelial Cells/metabolism ; Lung/pathology ; Mutation ; Surface-Active Agents/metabolism

المؤلفون: Wambach JA; Washington University School of Medicine St. Louis, Missouri., Wegner DJ; Washington University School of Medicine St. Louis, Missouri., Kitzmiller J; Cincinnati Children's Hospital Cincinnati, Ohio., White FV; Washington University School of Medicine St. Louis, Missouri., Heins HB; Washington University School of Medicine St. Louis, Missouri., Yang P; Washington University School of Medicine St. Louis, Missouri., Paul AJ; Washington University School of Medicine St. Louis, Missouri., Granadillo JL; Washington University School of Medicine St. Louis, Missouri., Eghtesady P; Washington University School of Medicine St. Louis, Missouri., Kuklinski C; Washington University School of Medicine St. Louis, Missouri., Turner T; Indiana University School of Medicine Indianapolis, Indiana., Fairman K; Indiana University School of Medicine Indianapolis, Indiana., Stone K; Indiana University School of Medicine Indianapolis, Indiana., Wilson T; Indiana University School of Medicine Indianapolis, Indiana., Breman A; Indiana University School of Medicine Indianapolis, Indiana., Smith J; Baylor College of Medicine Houston, Texas., Schroeder MC; Washington University School of Medicine St. Louis, Missouri., Neidich JA; Washington University School of Medicine St. Louis, Missouri., Whitsett JA; Cincinnati Children's Hospital Cincinnati, Ohio., Cole FS; Washington University School of Medicine St. Louis, Missouri.

المصدر: American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2024 Jan; Vol. 70 (1), pp. 78-80.

نوع المنشور: Letter

بيانات الدورية: 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

مواضيع طبية MeSH: Respiratory Insufficiency*/genetics, Infant, Newborn ; Humans ; Homozygote