Genomes and Genes
Experts and Doctors on skin abnormalities in United States
Locale: United States
Topic: skin abnormalities
- Quezada E, Gripp K. Costello syndrome and related disorders. Curr Opin Pediatr. 2007;19:636-44 pubmed..Molecular testing is available and a clinical diagnosis should be reconsidered if it is inconsistent with the molecular result. ..
- Sampath H, Flowers M, Liu X, Paton C, Sullivan R, Chu K, et al. Skin-specific deletion of stearoyl-CoA desaturase-1 alters skin lipid composition and protects mice from high fat diet-induced obesity. J Biol Chem. 2009;284:19961-73 pubmed publisher..This results in up-regulation of thermogenic processes for temperature maintenance at the expense of fuel economy, illustrating cross-talk between the skin and peripheral tissues in maintaining energy homeostasis. ..
- Choi J, Sutor S, Lindquist L, Evans G, Madden B, Bergen H, et al. Severe osteogenesis imperfecta in cyclophilin B-deficient mice. PLoS Genet. 2009;5:e1000750 pubmed publisher..These data provide significant new mechanistic insight into the pathophysiology of OI and reveal how the members of the P3H1/CRTAP/CypB complex interact to direct proper formation of collagen and bone. ..
- Harrison S, Davis B, Nishimura M, Albers K, Jones M, Phillips H. Rescue of NGF-deficient mice I: transgenic expression of NGF in skin rescues mice lacking endogenous NGF. Brain Res Mol Brain Res. 2004;122:116-25 pubmed..Thus, the most vital functions of NGF are not dependent on faithful recapitulation of the normal spatiotemporal pattern of gene expression. ..
- Mattsson N, Duzevik E, Pelsue S. Expansion of CD22lo B cells in the spleen of autoimmune-prone flaky skin mice. Cell Immunol. 2005;234:124-32 pubmed..We contend that decreased activation thresholds among CD22lo B-lymphocytes contributes to the expansion of immature and B-1 B cell populations and to the development of autoimmune pathology in fsn/fsn mice. ..
- Gripp K, Lin A, Stabley D, Nicholson L, Scott C, Doyle D, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A. 2006;140:1-7 pubmed..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete. ..
- Threadgill D, Dlugosz A, Hansen L, Tennenbaum T, Lichti U, Yee D, et al. Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype. Science. 1995;269:230-4 pubmed..The multiple abnormalities associated with EGFR deficiency indicate that the receptor is involved in a wide range of cellular activities. ..
- Herron B, Bryda E, Heverly S, Collins D, Flaherty L. Scraggly, a new hair loss mutation on mouse chromosome 19. Mamm Genome. 1999;10:864-9 pubmed..Allelism tests between sgl and asebia (ab), another hair loss mutation on mouse Chr 19, showed that these genes were separate and distinct. ..
- Barisic Dujmovic T, Boban I, Adams D, Clark S. Marfan-like skeletal phenotype in the tight skin (Tsk) mouse. Calcif Tissue Int. 2007;81:305-15 pubmed..These initial experiments demonstrated a significant role of the fibrillin 1 protein in the extracellular matrix of bone cells. ..
- Hobson G, Gibson C, Aragon M, Yuan Z, Davis Williams A, Banser L, et al. A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). Am J Med Genet A. 2009;149A:1698-705 pubmed publisher..More than 50 additional genes were monosomic in this patient...
- Liu X, Dangel A, Kelley R, Zhao W, Denny P, Botcherby M, et al. The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Nat Genet. 1999;22:182-7 pubmed..They also expand the spectrum of phenotypes associated with abnormalities of cholesterol metabolism. ..
- Sengle G, Tsutsui K, Keene D, Tufa S, Carlson E, Charbonneau N, et al. Microenvironmental regulation by fibrillin-1. PLoS Genet. 2012;8:e1002425 pubmed publisher..We conclude that local tissue-specific microenvironments, affected in WMS, are maintained by a fibrillin-1 microfibril scaffold, modulated by ADAMTSLIKE proteins in concert with ADAMTS enzymes. ..