Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Autor: Saettini F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy. f.saettini@gmail.com., Guerra F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom., Mauri M; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Salter CG; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Adam MP; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Adams D; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK., Barredo E; Neuropediatric Department, Hospital Universitario Gregorio Marañón, Madrid, Spain., Bhatia S; Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Dusseldorf, Düsseldorf, Germany., Borkhardt A; Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Dusseldorf, Düsseldorf, Germany., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Bugarin C; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Chinello C; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK., D'Souza P; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Denti V; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Fazio G; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Giuliani S; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Kuehn HS; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Amel H; Pediatric Allergy and Immunology Department, Sidra Medicine, Doha, Qatar., Elmi A; Research Branch, Sidra Medicine, Doha, Qatar., Lo B; Research Branch, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Malighetti F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Mandrile G; Department of Medical Sciences, University of Turin, Turin, Italy., Martín-Nalda A; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Mefford HC; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Moratto D; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy., Emam Mousavi F; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom., Nelson Z; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA, USA., Gutiérrez-Solana LG; Hospital Infantil Niño Jesús, Madrid, Madrid, Spain., Macnamara E; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Michaud V; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, Aquitaine, France. INSERM U1211, Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Aquitaine, Talence, France., O'Leary M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pagani L; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Pavinato L; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Santamaria PV; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Quadri M; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Raspall-Chaure M; Department of Paediatric Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Rebellato S; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Rosenzweig SD; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Roubertie A; Département de Neuropédiatrie, CIC, CHU de Montpellier, INM, Univ Montpellier, INSERM U 1298, Montpellier, France., Holzinger D; Department of Pediatric Haematology-Oncology, Pediatrics III, University of Duisburg-Essen, Essen, Germany.; Department of Applied Health Sciences, University of Applied Sciences Bochum, Bochum, Germany., Deal C; Division of Pediatric Allergy and Immunology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA., Vockley CW; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA., Savino AM; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., L Stoddard J; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Uhlig HH; Translational Gastroenterology Unit, NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, University of Oxford, Oxfordshire, UK.; Department of Paediatrics, University of Oxford, Oxfordshire, UK.; Oxford NIHR Biomedical Research Centre, Oxford, UK., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain., Magni F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Paglia G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Cazzaniga G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Piazza R; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Barberis M; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom., Biondi A; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2024 Sep 23; Vol. 45 (1), pp. 15. Date of Electronic Publication: 2024 Sep 23.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.

Autor: Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030., Shridharan RV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030., Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030., Steger B; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892., Morimoto M; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892., Frost FG; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892., Macnamara E; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030., Jenny A; Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, New York, NY 10461.; Department of Genetics, Albert Einstein College of Medicine, New York, NY 10461., Adams D; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892., Malicdan MC; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Feb 27; Vol. 121 (9), pp. e2322582121. Date of Electronic Publication: 2024 Feb 21.

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Autor: Koop K; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands., Yuan W; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Rodriguez-Polanco WR; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA., Grubbs J; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA., Zhang B; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Graham G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Sawyer S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Treat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland., Pienkowski VM; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland.; Marseille Medical Genetics U1251, Aix Marseille University, Marseille, 13005, France., Kłosowska A; Department of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, Gdańsk, 80-210, Poland., Fieg E; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA., Krier J; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA., Mallebranche C; Unité d'Onco-Hémato-Immunologie pédiatrique, CHU d'Angers, Angers, 49933, France., Alban Z; Service de génétique, CHU d'Angers, Angers, 49933, France., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA., Ritter D; Department of Pediatrics, Oncology Section, Baylor College of Medicine, Houston, TX, 77030, USA., Macnamara E; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD, 20892, USA., Sullivan B; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Helbig C; The Epilepsy Neurogenetics Initiative, Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Ellis CA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia PA, 19104, USA., van Eyk C; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia., Gecz J; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia., Farrugia D; Haematology, Mater Dei Hospital, Msida, MSD2090, Malta., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Adès L; Department of Clinical Genetics, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, 2145, Australia., van den Boogaard MJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands., Fuchs S; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands., Bakker J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Duran K; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Dawson ZD; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Lindsey A; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Huang H; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Baldridge D; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Silverman GA; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Grant BD; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA., Raizen D; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands., Pak SC; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, 24943, Flensburg, Germany., Schedl T; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., van Hasselt P; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Oct 17; Vol. 32 (21), pp. 3063-3077.

Some Limnological Observations from Enderby Land, Antarctica

Autor: MacNamara, E. E.

Publikováno v: Limnology and Oceanography, 1970 Sep 01. 15(5), 768-775.

Externí odkaz: https://www.jstor.org/stable/2834014