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Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
Jiang, Qian; Arnold, Stacey; Heanue, Tiffany; Kilambi, Krishna Praneeth; Doan, Betty; Kapoor, Ashish; Ling, Albee Yun; Sosa, Maria X; Guy, Moltu; Jiang, Qingguang; Burzynski, Grzegorz; West, Kristen; Bessling, Seneca; Griseri, Paola; Amiel, Jeanne; Fernandez, Raquel M; Verheij, Joke B G M; Hofstra, Robert M W; Borrego, Salud; Lyonnet, Stanislas; Ceccherini, Isabella; Gray, Jeffrey J; Pachnis, Vassilis; McCallion, Andrew S; Chakravarti, Aravinda.
Afiliação
  • Jiang Q; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, China.
  • Arnold S; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Heanue T; Division of Molecular Neurobiology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.
  • Kilambi KP; Department of Chemical and Biomolecular Engineering, Johns Hopkins University, Baltimore, MD 21218, USA.
  • Doan B; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Kapoor A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Ling AY; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Sosa MX; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Guy M; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Jiang Q; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Burzynski G; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • West K; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Bessling S; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Griseri P; U.O.C. Genetica Medica, Istituto Gaslini, 16147 Genova, Italy.
  • Amiel J; INSERM UMR 1163, Laboratory of Embryology and Genetics of Congenital Malformations, 75015 Paris, France; Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.
  • Fernandez RM; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
  • Verheij JB; Department of Medical Genetics, University of Groningen, Groningen 9700, Germany.
  • Hofstra RM; Department of Clinical Genetics, University of Rotterdam, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands; Neural Development and Gastroenterology Units, UCL Institute of Child Health, London WC1 NEH, UK.
  • Borrego S; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
  • Lyonnet S; INSERM UMR 1163, Laboratory of Embryology and Genetics of Congenital Malformations, 75015 Paris, France; Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.
  • Ceccherini I; U.O.C. Genetica Medica, Istituto Gaslini, 16147 Genova, Italy.
  • Gray JJ; Department of Chemical and Biomolecular Engineering, Johns Hopkins University, Baltimore, MD 21218, USA.
  • Pachnis V; Division of Molecular Neurobiology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.
  • McCallion AS; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Chakravarti A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: aravinda@jhmi.edu.
Am J Hum Genet ; 96(4): 581-96, 2015 Apr 02.
Article em En | MEDLINE | ID: mdl-25839327
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença / Semaforinas / Epistasia Genética / Proteínas Proto-Oncogênicas c-ret / Doença de Hirschsprung Limite: Animals Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: China
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença / Semaforinas / Epistasia Genética / Proteínas Proto-Oncogênicas c-ret / Doença de Hirschsprung Limite: Animals Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: China