Search Results - "Gleghorn, Lindsay"

Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer by Gleghorn, Lindsay J, Trump, Dorothy, Bulleid, Neil J

“…The X-linked disease retinoschisis is caused by mutations in the RS1 gene encoding retinoschisin, most commonly missense mutations leading to a lack of…”
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A Mutation in the Variable Repeat Region of the Aggrecan Gene ( AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis by Gleghorn, Lindsay, Ramesar, Rajkumar, Beighton, Peter, Wallis, Gillian

“…Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of disorders characterized by shortening of the trunk and limbs. The autosomal dominant…”
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Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia by Watson, Christopher Mark, Crinnion, Laura A, Gleghorn, Lindsay, Newman, William G, Ramesar, Rajkumar, Beighton, Peter, Wallis, Gillian A

“…Beukes hip dysplasia (BHD) is an autosomal dominant disorder of variable penetrance that was originally identified in a large South African family of European…”
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The Molecular Basis of Heritable Forms of Osteoarthritis by Gleghorn, Lindsay Jane

“…Osteoarthritis (OA) is a common, painful, debilitating disease that results in the progressive degeneration of the articular cartilage of synovial joints…”
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