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Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

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Title: Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.
Authors: Chapman KA; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington, DC, USA., Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Yahiku ZA; Department of Neuroscience, University of Arizona, Tucson, AZ, USA., Khan S; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Kodiparthi SV; AIQure LLC, El Paso, TX, USA., Kellaris G; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., White HG; Department of Neuroscience, University of Arizona, Tucson, AZ, USA., Powell AT; Department of Neuroscience, University of Arizona, Tucson, AZ, USA., Correia SP; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Stödberg T; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden., Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece; Laboratory of Genetics, Faculty of Medicine, Democritus University of Thrace, Alexandroupolis, Greece., Fryssira H; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Tsoutsou E; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Accogli A; Division of Medical Genetics, Department of Medicine, and Department of Human Genetics, McGill University, Montreal, QC, Canada., Sciruicchio V; Children Epilepsy and EEG Center, Bari, Italy., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; IRCCS Istituto Giannina Gaslini, full member of ERN-EpiCARE, Genova, Italy., Muss C; Nemours Children's Hospital, Wilmington, DE, USA., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris, France., Heron D; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris, France., Berger SI; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington, DC, USA., Pond KW; Department of Cellular and Molecular Medicine, University of Arizona College of Medicine, Tucson, AZ, USA., Sirimulla S; AIQure LLC, El Paso, TX, USA; Expert Systems Inc., San Diego, CA, USA., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Electronic address: eridavis@luriechildrens.org., Bhattacharya MRC; Department of Neuroscience, University of Arizona, Tucson, AZ, USA. Electronic address: marthab1@arizona.edu.
Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2381-2401. Date of Electronic Publication: 2025 Aug 29.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.
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  Data: <searchLink fieldCode="AU" term="%22Chapman+KA%22">Chapman KA</searchLink>; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Ullah+F%22">Ullah F</searchLink>; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Yahiku+ZA%22">Yahiku ZA</searchLink>; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Khan+S%22">Khan S</searchLink>; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Kodiparthi+SV%22">Kodiparthi SV</searchLink>; AIQure LLC, El Paso, TX, USA.<br /><searchLink fieldCode="AU" term="%22Kellaris+G%22">Kellaris G</searchLink>; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22White+HG%22">White HG</searchLink>; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Powell+AT%22">Powell AT</searchLink>; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Correia+SP%22">Correia SP</searchLink>; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Stödberg+T%22">Stödberg T</searchLink>; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Sofocleous+C%22">Sofocleous C</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Marinakis+NM%22">Marinakis NM</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece; Laboratory of Genetics, Faculty of Medicine, Democritus University of Thrace, Alexandroupolis, Greece.<br /><searchLink fieldCode="AU" term="%22Fryssira+H%22">Fryssira H</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tsoutsou+E%22">Tsoutsou E</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Traeger-Synodinos+J%22">Traeger-Synodinos J</searchLink>; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Accogli+A%22">Accogli A</searchLink>; Division of Medical Genetics, Department of Medicine, and Department of Human Genetics, McGill University, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Sciruicchio+V%22">Sciruicchio V</searchLink>; Children Epilepsy and EEG Center, Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Salpietro+V%22">Salpietro V</searchLink>; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; IRCCS Istituto Giannina Gaslini, full member of ERN-EpiCARE, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Muss+C%22">Muss C</searchLink>; Nemours Children's Hospital, Wilmington, DE, USA.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Heron+D%22">Heron D</searchLink>; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Berger+SI%22">Berger SI</searchLink>; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Pond+KW%22">Pond KW</searchLink>; Department of Cellular and Molecular Medicine, University of Arizona College of Medicine, Tucson, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Sirimulla+S%22">Sirimulla S</searchLink>; AIQure LLC, El Paso, TX, USA; Expert Systems Inc., San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Davis+EE%22">Davis EE</searchLink>; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Electronic address: eridavis@luriechildrens.org.<br /><searchLink fieldCode="AU" term="%22Bhattacharya+MRC%22">Bhattacharya MRC</searchLink>; Department of Neuroscience, University of Arizona, Tucson, AZ, USA. Electronic address: marthab1@arizona.edu.
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