1 to 10 of 69 literature results

• Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.

  We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single mother-daughter pair.…

  Authors: Sheila Unger, Detlef Böhm, Frank J Kaiser, Silke Kaulfuss, Wiktor Borozdin, Karin Buiting, Peter Burfeind, Johann Böhm, Francisco Barrionuevo, Alexander Craig,…

  Source: Nature genetics. 2008 Mar

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• Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.

  Proteoglycans are a family of extracellular macromolecules comprised of glycosaminoglycan chains of a repeated disaccharide linked to a central core p…

  Authors: Shuichi Hiraoka, Tatsuya Furuichi, Gen Nishimura, Shunichi Shibata, Masaki Yanagishita, David L Rimoin, Andrea Superti-Furga, Peter G Nikkels, Minako Ogawa, Kayoko Katsuyama,…

  Source: Nature medicine. 2007 Nov

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• Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

  The matrix metalloproteinases MMP9 and MMP13 catalyze the degradation of extracellular matrix (ECM) components in the growth plate and at the same tim…

  Authors: Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valerie Cormier-Daire, Sarah Nikkel, Gen Nishimura, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga, Bernhard Zabel

  Source: American journal of human genetics. 2009 Aug

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• Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.

  Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare skeletal dysplasia with only a few cases reported in the literature. Affected individua…

  Authors: Jan Hellemans, Marleen Simon, Annelies Dheedene, Yasemin Alanay, Ercan Mihci, Laila Rifai, Abdelaziz Sefiani, Yolande van Bever, Morteza Meradji, Andrea Superti-Furga,…

  Source: American journal of human genetics. 2009 Dec

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• TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.

  Members of the evolutionarily conserved T-box family of transcription factors are important players in developmental processes that include mesoderm f…

  Authors: Ekkehart Lausch, Pia Hermanns, Henner F Farin, Yasemin Alanay, Sheila Unger, Sarah Nikkel, Christoph Steinwender, Gerd Scherer, Jürgen Spranger, Bernhard Zabel,…

  Source: American journal of human genetics. 2008 Nov

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• The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

  3-M syndrome is an autosomal-recessive primordial growth disorder characterized by significant intrauterine and postnatal growth restriction. Mutation…

  Authors: Dan Hanson, Philip G Murray, Amit Sud, Samia A Temtamy, Mona Aglan, Andrea Superti-Furga, Sue E Holder, Jill Urquhart, Emma Hilton, Forbes D C Manson,…

  Source: American journal of human genetics. 2009 Jun

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• Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

  Glypicans are a family of glycosylphosphatidylinositol (GPI)-anchored, membrane-bound heparan sulfate (HS) proteoglycans. Their biological roles are o…

  Authors: Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxová, Karl-Henrik Gustavson, Zvi U Borochowitz, A Micheil Innes,…

  Source: American journal of human genetics. 2009 Jun

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• Identification of mutations in CUL7 in 3-M syndrome.

  Intrauterine growth retardation is caused by maternal, fetal or placental factors that result in impaired endovascular trophoblast invasion and reduce…

  Authors: Céline Huber, Dora Dias-Santagata, Anna Glaser, James O'Sullivan, Raja Brauner, Kenneth Wu, Xinsong Xu, Kerra Pearce, Rong Wang, Maria Luisa Giovannucci Uzielli,…

  Source: Nature genetics. 2005 Oct

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• Identification of CANT1 mutations in Desbuquois dysplasia.

  Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phal…

  Authors: Céline Huber, Bénédicte Oulès, Marta Bertoli, Mounia Chami, Mélanie Fradin, Yasemin Alanay, Lihadh I Al-Gazali, Margreet G E M Ausems, Pierre Bitoun, Denise P Cavalcanti,…

  Source: American journal of human genetics. 2009 Nov

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• Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.

  X-linked severe combined immunodeficiency is a life-threatening disorder caused by mutations in the gene encoding the interleukin-2 receptor gamma cha…

  Authors: Carsten Speckmann, Ulrich Pannicke, Elisabeth Wiech, Klaus Schwarz, Paul Fisch, Wilhelm Friedrich, Tim Niehues, Kimberly Gilmour, Karin Buiting, Michael Schlesier,…

  Source: Blood. 2008 Nov 15

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