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Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.

Autor: Beaman MM; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.; Medical Scientist Training Program, Duke University, Durham, North Carolina, USA.; University Program in Genetics & Genomics, Duke University, Durham, North Carolina, USA., Yin W; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Smith AJ; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Sears PR; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Leigh MW; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Ferkol TW; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Kearney B; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.; Center for Statistical Genetics and Genomics, Duke University, Durham, North Carolina, USA., Olivier KN; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Kimple AJ; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Otolaryngology/Head & Neck Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Clarke S; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.; Center for Statistical Genetics and Genomics, Duke University, Durham, North Carolina, USA., Huggins E; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA., Nading E; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA., Jung SH; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA., Iyengar AK; University Program in Genetics & Genomics, Duke University, Durham, North Carolina, USA.; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.; Center for Statistical Genetics and Genomics, Duke University, Durham, North Carolina, USA., Zou X; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.; Center for Statistical Genetics and Genomics, Duke University, Durham, North Carolina, USA.; Program in Computational Biology & Bioinformatics, Duke University, Durham, North Carolina, USA., Dang H; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Barrera A; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.; Center for Statistical Genetics and Genomics, Duke University, Durham, North Carolina, USA., Majoros WH; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.; Center for Statistical Genetics and Genomics, Duke University, Durham, North Carolina, USA., Rehder CW; Department of Pathology, Duke University, Durham, North Carolina, USA., Reddy TE; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.; Center for Statistical Genetics and Genomics, Duke University, Durham, North Carolina, USA., Ostrowski LE; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Allen AS; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.; Center for Statistical Genetics and Genomics, Duke University, Durham, North Carolina, USA., Knowles MR; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Zariwala MA; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Crawford GE; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct 04, pp. e63880. Date of Electronic Publication: 2024 Oct 04.

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.

Autor: Dougherty GW; Department of General Pediatrics., Ostrowski LE; Department of Pediatrics.; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Nöthe-Menchen T; Department of General Pediatrics., Raidt J; Department of General Pediatrics., Schramm A; Department of General Pediatrics., Olbrich H; Department of General Pediatrics., Yin W; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Sears PR; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Dang H; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Smith AJ; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Beule AG; Department of Otorhinolaryngology, and., Hjeij R; Department of General Pediatrics., Rutjes N; Department of Pediatric Pulmonology and Allergy, Emma Children's Hospital, Amsterdam, the Netherlands., Haarman EG; Department of Pediatric Pulmonology and Allergy, Emma Children's Hospital, Amsterdam, the Netherlands., Maas SM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Ferkol TW; Department of Pediatrics., Noone PG; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center.; Department of Medicine., Olivier KN; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center.; Department of Medicine., Bracht DC; Department of General Pediatrics., Barbry P; Université Côte d'Azur, CNRS, Institut Pharmacologie Moléculaire et Cellulaire, Sophia-Antipolis, France., Zaragosi LE; Université Côte d'Azur, CNRS, Institut Pharmacologie Moléculaire et Cellulaire, Sophia-Antipolis, France., Fierville M; Université Côte d'Azur, CNRS, Institut Pharmacologie Moléculaire et Cellulaire, Sophia-Antipolis, France., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Muenster, Muenster, Germany., Wohlgemuth K; Department of General Pediatrics., König J; Department of General Pediatrics., George S; Department of General Pediatrics., Loges NT; Department of General Pediatrics., Ceppe A; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Markovetz MR; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Luo H; Department of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, Changsha, China., Guo T; Department of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, Changsha, China., Rizk H; Department of Pediatrics, Faculty of Medicine, University of Mansoura, Mansoura, Egypt., Eldesoky T; Department of Pediatrics, Faculty of Medicine, University of Mansoura, Mansoura, Egypt., Dahlke K; Institute for Ophthalmic Research and Core Facility for Medical Proteomics, Tübingen, Germany.; Eberhard Karls University Tübingen, Tübingen, Germany; and., Boldt K; Institute for Ophthalmic Research and Core Facility for Medical Proteomics, Tübingen, Germany.; Eberhard Karls University Tübingen, Tübingen, Germany; and., Ueffing M; Institute for Ophthalmic Research and Core Facility for Medical Proteomics, Tübingen, Germany.; Eberhard Karls University Tübingen, Tübingen, Germany; and., Hill DB; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center.; Department of Physics and Astronomy, and., Pang YP; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota., Knowles MR; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center.; Department of Medicine., Zariwala MA; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center.; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Omran H; Department of General Pediatrics.

Publikováno v: American journal of respiratory and critical care medicine [Am J Respir Crit Care Med] 2024 Jul 01; Vol. 210 (1), pp. 63-76.