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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Goodman, Lindsey D; Cope, Heidi; Nil, Zelha; Ravenscroft, Thomas A; Charng, Wu-Lin; Lu, Shenzhao; Tien, An-Chi; Pfundt, Rolph; Koolen, David A; Haaxma, Charlotte A; Veenstra-Knol, Hermine E; Wassink-Ruiter, Jolien S Klein; Wevers, Marijke R; Jones, Melissa; Walsh, Laurence E; Klee, Victoria H; Theunis, Miel; Legius, Eric; Steel, Dora; Barwick, Katy E S; Kurian, Manju A; Mohammad, Shekeeb S; Dale, Russell C; Terhal, Paulien A; van Binsbergen, Ellen; Kirmse, Brian; Robinette, Bethany; Cogné, Benjamin; Isidor, Bertrand; Grebe, Theresa A; Kulch, Peggy; Hainline, Bryan E; Sapp, Katherine; Morava, Eva; Klee, Eric W; Macke, Erica L; Trapane, Pamela; Spencer, Christopher; Si, Yue; Begtrup, Amber; Moulton, Matthew J; Dutta, Debdeep; Kanca, Oguz; Wangler, Michael F; Yamamoto, Shinya; Bellen, Hugo J; Tan, Queenie K-G.
Afiliación
  • Goodman LD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
  • Nil Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Ravenscroft TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Tien AC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands.
  • Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands.
  • Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, the Netherlands.
  • Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
  • Wassink-Ruiter JSK; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
  • Wevers MR; Department of Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Jones M; Houston Area Pediatric Neurology, 24514 Kingsland Blvd, Katy, TX 77494, USA.
  • Walsh LE; Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA.
  • Klee VH; Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA.
  • Theunis M; Center for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Legius E; Department of Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.
  • Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Barwick KES; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
  • Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Mohammad SS; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia.
  • Dale RC; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia.
  • Terhal PA; Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • Kirmse B; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
  • Robinette B; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
  • Cogné B; Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l'institut du thorax, 44007 Nantes, France.
  • Isidor B; Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l'institut du thorax, 44007 Nantes, France.
  • Grebe TA; Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Department of Child Health, University of Arizona College of Medicine Phoenix, Phoenix, AZ 85004, USA.
  • Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Hainline BE; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
  • Sapp K; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
  • Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
  • Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
  • Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
  • Trapane P; University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA.
  • Spencer C; University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA.
  • Si Y; GeneDx, Gaithersburg, MD 20877, USA.
  • Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.
  • Moulton MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
  • Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Development, Disease
  • Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Development, Disease
  • Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. Electronic address: khoon.tan@duke.edu.
Am J Hum Genet ; 108(9): 1669-1691, 2021 09 02.
Article en En | MEDLINE | ID: mdl-34314705
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Hereditarias del Ojo / Discapacidades del Desarrollo / Proteína de Unión al GTP ran / Carioferinas / Beta Carioferinas / Proteínas de Drosophila / Discapacidad Intelectual / Anomalías Musculoesqueléticas Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Hereditarias del Ojo / Discapacidades del Desarrollo / Proteína de Unión al GTP ran / Carioferinas / Beta Carioferinas / Proteínas de Drosophila / Discapacidad Intelectual / Anomalías Musculoesqueléticas Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos