1 to 10 of 39 literature results

• 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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• Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

  The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild…

  Authors: Matthew J Rock, Jean Prenen, Vincent A Funari, Tara L Funari, Barry Merriman, Stanley F Nelson, Ralph S Lachman, William R Wilcox, Soraya Reyno, Roberto Quadrelli,…

  Source: Nature genetics. 2008 Aug

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• A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

  Analysis of a nuclear family with three affected offspring identified an autosomal-recessive form of spondyloepimetaphyseal dysplasia characterized by…

  Authors: Stuart W Tompson, Barry Merriman, Vincent A Funari, Maryline Fresquet, Ralph S Lachman, David L Rimoin, Stanley F Nelson, Michael D Briggs, Daniel H Cohn, Deborah Krakow

  Source: American journal of human genetics. 2009 Jan

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• Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

  The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abno…

  Authors: Amy E Merrill, Barry Merriman, Claire Farrington-Rock, Natalia Camacho, Eiman T Sebald, Vincent A Funari, Matthew J Schibler, Marc H Firestein, Zachary A Cohn, Mary Ann Priore,…

  Source: American journal of human genetics. 2009 Apr

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• Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

  The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of…

  Authors: Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara L Funari, Carlos A Bacino, Mira B Irons, Ingrid A Holm, Laurie Sadler,…

  Source: American journal of human genetics. 2009 Mar

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• Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

  The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional netwo…

  Authors: Deborah Krakow, Stephen P Robertson, Lily M King, Timothy Morgan, Eiman T Sebald, Cristina Bertolotto, Sebastian Wachsmann-Hogiu, Dora Acuna, Sandor S Shapiro, Toshiro Takafuta,…

  Source: Nature genetics. 2004 Apr

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• Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

  Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC) are similar, rare autosomal recessive osteochondrodysplasias. The radiographi…

  Authors: Daniel H Cohn, Nadia Ehtesham, Deborah Krakow, Sheila Unger, Alan Shanske, Kent Reinker, Berkley R Powell, David L Rimoin

  Source: American journal of human genetics. 2003 Feb

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• CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

  Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Recentl…

  Authors: Dustin Baldridge, Ulrike Schwarze, Roy Morello, Jennifer Lennington, Terry K Bertin, James M Pace, Melanie G Pepin, Maryann Weis, David R Eyre, Jennifer Walsh,…

  Source: Human mutation. 2008 Dec

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• A history of medical genetics in pediatrics.

  Medical genetics emerged from a basic science only one half century ago. Scientists and physicians housed in a variety of basic science and clinical d…

  Authors: David L Rimoin, Kurt Hirschhorn

  Source: Pediatric research. 2004 Jul

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• The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.

  The Shwachman-Bodian-Diamond syndrome (SBDS) gene is a causative gene for Shwachman-Diamond syndrome, an autosomal recessive disorder with exocrine pa…

  Authors: Gen Nishimura, Eiji Nakashima, Yuichiro Hirose, Trevor Cole, Phillip Cox, Daniel H Cohn, David L Rimoin, Ralph S Lachman, Yoshinari Miyamoto, Bronwyn Kerr,…

  Source: Journal of medical genetics. 2007 Apr

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