نتایج جستجو برای: kiaa1279

تعداد نتایج: 8  

2017
Shadab SALEHPOUR Feyzollah HASHEMI-GORJI Ziba SOLTANI Soudeh GHAFOURI-FARD Mohammad MIRYOUNESI

Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the brain. This syndrome has been associated with KIAA1279 gene mutations at 10q22.1. Here we report ...

Journal: :Human molecular genetics 2013
Loïc Drévillon André Megarbane Bénédicte Demeer Corine Matar Paule Benit Audrey Briand-Suleau Virginie Bodereau Jamal Ghoumid Mayssa Nasser Xavier Decrouy Martine Doco-Fenzy Pierre Rustin Dominique Gaillard Michel Goossens Irina Giurgea

Goldberg-Shprintzen syndrome (GOSHS, MIM #609460) is an autosomal recessive disorder of intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). In 2005, homozygosity mapping in a large consanguineous family identified KIAA1279 as the disease-causing gene. KIAA1279 encodes KIF-binding protein (KBP), whose function is incompletely understood. Studies have identified ei...

Journal: :iranian journal of child neurology 0
shadab salehpour 1. department of pediatrics, mofid children hospital, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran feyzollah hashemi-gorji 2. genomic research center, shahid beheshti university of medical sciences, tehran, iran ziba soltani 2. genomic research center, shahid beheshti university of medical sciences, tehran, iran soudeh ghafouri-fard 3. department of medical genetics, shahid beheshti university of medical sciences, tehran, iran mohammad miryounesi 2. genomic research center, shahid beheshti university of medical sciences, tehran, iran

abstract goldberg-shprintzen syndrome (omim 609460) (goshs) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. most affected individuals also have hirschsprung disease and/or gyral abnormalities of the brain. this syndrome has been shown to be associated with kiaa1279 gene mutations at 10q...

Journal: :Development 2008
David A Lyons Stephen G Naylor Sara Mercurio Claudia Dominguez William S Talbot

Mutations in Kif1-binding protein/KIAA1279 (KBP) cause the devastating neurological disorder Goldberg-Shprintzen syndrome (GSS) in humans. The cellular function of KBP and the basis of the symptoms of GSS, however, remain unclear. Here, we report the identification and characterization of a zebrafish kbp mutant. We show that kbp is required for axonal outgrowth and maintenance. In vivo time-lap...

Journal: :Current Biology 2016
Josta T. Kevenaar Sarah Bianchi Myrrhe van Spronsen Natacha Olieric Joanna Lipka Cátia P. Frias Marina Mikhaylova Martin Harterink Nanda Keijzer Phebe S. Wulf Manuel Hilbert Lukas C. Kapitein Esther de Graaff Anna Ahkmanova Michel O. Steinmetz Casper C. Hoogenraad

Kinesin motor proteins play a fundamental role for normal neuronal development by controlling intracellular cargo transport and microtubule (MT) cytoskeleton organization. Regulating kinesin activity is important to ensure their proper functioning, and their misregulation often leads to severe human neurological disorders. Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 ...

2011
Qian Jiang Yen-Yi Ho Li Hao Courtney Nichols Berrios Aravinda Chakravarti

Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. The HSCR phenotype is highly variable with respect to gender, length of aganglionosis, familiality and the presence of additional anomalies. By molecular genetic analysis, a minimum of 11 neuro-developmental genes (RET, GDNF, NRTN, SOX10, ...

Journal: :Archives of neurology 2008
Marie Claire Yvette de Wit Maarten H Lequin Ireneaus F M de Coo Esther Brusse Dicky J J Halley Raoul van de Graaf Rachel Schot Frans W Verheijen Grazia M S Mancini

BACKGROUND Malformations of cortical development (MCDs) are a major source of handicap. Much progress in understanding the genetic causes has been made recently. The number of affected children in whom a molecularly confirmed diagnosis can be made is unclear. OBJECTIVE To evaluate the etiology of MCDs in children and the effect of a combined radiological, clinical, and syndrome classification...

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