Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com
about
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesisSterol regulatory element-binding protein-2 interacts with hepatocyte nuclear factor-4 to enhance sterol isomerase gene expression in hepatocytesIsolation and characterization of Suv39h2, a second histone H3 methyltransferase gene that displays testis-specific expressionAutosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor geneMutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.Recent insights into the Smith-Lemli-Opitz syndrome.Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismLate gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndromeInnovative Target Therapies Are Able to Block the Inflammation Associated with Dysfunction of the Cholesterol Biosynthesis PathwayHidden disease susceptibility and sexual dimorphism in the heterozygous knockout of Cyp51 from cholesterol synthesisCholesterol metabolism is required for intracellular hedgehog signal transduction in vivoNovel EBP gene mutations in Conradi-Hünermann-Happle syndromeCholesterol biosynthesis from lanosterol: molecular cloning, chromosomal localization, functional expression and liver-specific gene regulation of rat sterol delta8-isomerase, a cholesterogenic enzyme with multiple functionsSevere facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatinMalformation syndromes due to inborn errors of cholesterol synthesisLethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.Mutations in the human DHCR7 gene.A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeletonA large-scale multi-technique approach identifies forty-nine new players of keratinocyte terminal differentiation in human epidermis.Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.Zymosterol is isomerized to cholesta-7;24-dien-3beta-olMalformation syndromes caused by disorders of cholesterol synthesis.Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: annotated tables.Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.Disruption of the gene encoding 3beta-hydroxysterol Delta-reductase (Tm7sf2) in mice does not impair cholesterol biosynthesis.TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic diseaseDistribution and functions of sterols and sphingolipids.Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasisInherited metabolic diseases and pregnancy.A Botrytis cinerea emopamil binding domain protein, required for full virulence, belongs to a eukaryotic superfamily which has expanded in euascomycetes.Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.Defects of cholesterol biosynthesis.A novel locus for X-linked congenital cataract on Xq24.Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.Cholesterol: a novel regulatory role in myelin formation.Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
P2860
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P2860
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com
description
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1999
@ast
im Juli 1999 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1999/07/01)
@sk
vědecký článek publikovaný v roce 1999
@cs
wetenschappelijk artikel (gepubliceerd op 1999/07/01)
@nl
наукова стаття, опублікована в липні 1999
@uk
name
Mutations in a delta 8-delta 7 ...... a punctata. jderry@immunex.com
@ast
Mutations in a delta 8-delta 7 ...... a punctata. jderry@immunex.com
@en
Mutations in a delta 8-delta 7 ...... a punctata. jderry@immunex.com
@nl
type
label
Mutations in a delta 8-delta 7 ...... a punctata. jderry@immunex.com
@ast
Mutations in a delta 8-delta 7 ...... a punctata. jderry@immunex.com
@en
Mutations in a delta 8-delta 7 ...... a punctata. jderry@immunex.com
@nl
prefLabel
Mutations in a delta 8-delta 7 ...... a punctata. jderry@immunex.com
@ast
Mutations in a delta 8-delta 7 ...... a punctata. jderry@immunex.com
@en
Mutations in a delta 8-delta 7 ...... a punctata. jderry@immunex.com
@nl
P2093
P921
P356
P1433
P1476
Mutations in a delta 8-delta 7 ...... a punctata. jderry@immunex.com
@en
P2093
E. Gormally
G. D. Means
G. E. Herman
J. M. Derry
R. I. Kelley
P2888
P304
P356
10.1038/10350
P407
P577
1999-07-01T00:00:00Z