Výsledky vyhledávání - "Porterfield M"

Akademický článek

Mucus concentration-dependent biophysical abnormalities unify submucosal gland and superficial airway dysfunction in cystic fibrosis.

Autor: Kato T; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Respiratory Medicine, University of Tokyo, Tokyo, Japan., Radicioni G; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Papanikolas MJ; Department of Applied Physical Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Stoychev GV; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Markovetz MR; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Aoki K; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA., Porterfield M; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA., Okuda K; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Barbosa Cardenas SM; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Gilmore RC; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Morrison CB; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Ehre C; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Burns KA; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., White KK; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Brennan TA; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Goodell HP; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Thacker H; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Loznev HT; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Forsberg LJ; Protein Expression and Purification Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Nagase T; Department of Respiratory Medicine, University of Tokyo, Tokyo, Japan., Rubinstein M; Department of Mechanical Engineering and Materials Science, Duke University, Durham, NC, USA., Randell SH; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Tiemeyer M; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA., Hill DB; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Physics and Astronomy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Kesimer M; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., O'Neal WK; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Ballard ST; Department of Physiology and Cell Biology, University of South Alabama, Mobile, AL, USA., Freeman R; Department of Applied Physical Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Button B; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Boucher RC; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Publikováno v: Science advances [Sci Adv] 2022 Apr; Vol. 8 (13), pp. eabm9718. Date of Electronic Publication: 2022 Apr 01.

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Akademický článek

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.

Autor: Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Sosicka P; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Fenaille F; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, 91191 Gif sur Yvette, France., Harroche A; Hôpital Necker, Haemophilia Care Centre, 75015 Paris, France., Vuillaumier-Barrot S; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France; INSERM U1149, Université de Paris, 75018 Paris, France., Porterfield M; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Xia ZJ; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Wagner S; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Vergnes-Boiteux MC; Laboratoire d'Hématologie, CHU de Bordeaux, 33604 Pessac, France., Cholet S; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, 91191 Gif sur Yvette, France., Dalton S; Center for Molecular Medicine, University of Georgia, Athens, GA 30602, USA; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Dell A; Department of Life Sciences, Imperial College London, SW7 2AZ London, UK., Dupré T; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France., Fiore M; Laboratoire d'Hématologie, CHU de Bordeaux, 33604 Pessac, France; Centre de Référence des Pathologies Plaquettaires Constitutionnelles, CHU de Bordeaux, 33604 Pessac, France., Haslam SM; Department of Life Sciences, Imperial College London, SW7 2AZ London, UK., Huguenin Y; Centre de Ressources et de Compétence des Maladies Hémorragiques Constitutionnelles, CHU de Bordeaux, 33076 Bordeaux, France., Kumagai T; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Kulik M; Center for Molecular Medicine, University of Georgia, Athens, GA 30602, USA; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., McGoogan K; Medical Director of Hepatology Nemours Children's Specialty Care, Jacksonville, FL 32207, USA., Michot C; Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Université de Paris, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, 75015, Paris, France., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Pascreau T; Laboratoire d'Hématologie Biologique, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France., Borgel D; Laboratoire d'Hématologie Biologique, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France; HITh, UMR_S 1176, INSERM, Université Paris-Saclay, 94270 Le Kremlin-Bicêtre, France., Raymond K; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA., Warad D; Division of Pediatric Hematology Oncology, Mayo Clinic, Rochester, MN 55905, USA., Flanagan-Steet H; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA., Steet R; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA., Tiemeyer M; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Seta N; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France., Bruneel A; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France; INSERM UMR1193, Université Paris-Saclay, 92290 Châtenay-Malabry, France., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address: hudson@sbpdiscovery.org.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1040-1052. Date of Electronic Publication: 2021 May 07.

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