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Mutations in PYCR1 cause cutis laxa with progeroid features

Reversade, Bruno Escande-Beillard, Nathalie Dimopoulou, Aikaterini Fischer, Björn Chng, Serene C Li, Yun Shboul, Mohammad Tham, Puay-Yoke Kayserili, Hülya Al-Gazali, Lihadh ...

Published in Nature Genetics

Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled skin, osteopenia and mental retardation1,2,3. Homozygosity mapping in several kindreds with ARCL identified a candidate region on chromosome 17q25. By high-throughput sequencing of the entire candida...

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

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

Published in Nature genetics

The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. Here, we identify a locus for an autosomal dominant form of brachyolmia on chromosome 12q24.1-12q24.2. Among the genes in the genetic interval, we selected TRPV4, which encodes a calci...

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Willer, Tobias Lee, Hane Lommel, Mark Yoshida-Moriguchi, Takako de Bernabe, Daniel Beltran Valero Venzke, David Cirak, Sebahattin Schachter, Harry Vajsar, Jiri Voit, Thomas ...

Published in Nature genetics

Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal post-translational processing of a-dystroglycan that share a defect in laminin-binding glycan synthe...

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