Pages that link to "Q28114793"
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The following pages link to Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome (Q28114793):
Displaying 50 items.
- CHILD syndrome (Q3508568) (← links)
- NAD(P) dependent steroid dehydrogenase-like (Q21121749) (← links)
- Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis (Q24291608) (← links)
- Identification of major proteins in the lipid droplet-enriched fraction isolated from the human hepatocyte cell line HuH7 (Q24306180) (← links)
- IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response (Q24314756) (← links)
- Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay (Q24322551) (← links)
- Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene (Q24532084) (← links)
- Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome (Q24536104) (← links)
- Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism (Q24616344) (← links)
- Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase (Q24616588) (← links)
- Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome (Q24796612) (← links)
- A unified model for left-right asymmetry? Comparison and synthesis of molecular models of embryonic laterality (Q27008303) (← links)
- Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo (Q27339142) (← links)
- Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts (Q28243124) (← links)
- 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome (Q28354262) (← links)
- Malformation syndromes due to inborn errors of cholesterol synthesis (Q28790189) (← links)
- Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis (Q31910291) (← links)
- Mutations in the human DHCR7 gene (Q32163818) (← links)
- Heritability of cardiovascular and personality traits in 6,148 Sardinians (Q33255344) (← links)
- Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos (Q33552196) (← links)
- Genetic hair loss (Q34276873) (← links)
- Metabolic conversion as a pre-receptor control mechanism for lipophilic hormones (Q34328117) (← links)
- 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome (Q34388085) (← links)
- Mouse models of abnormal skeletal development and homeostasis (Q34390754) (← links)
- Malformation syndromes caused by disorders of cholesterol synthesis (Q34395171) (← links)
- Molecular-pathogenetic classification of genetic disorders of the skeleton (Q34561450) (← links)
- Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi (Q34768255) (← links)
- Hedgehog signaling stimulates the conversion of cholesterol to steroids. (Q35096784) (← links)
- Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development. (Q35524483) (← links)
- The cornified envelope: a model of cell death in the skin (Q36085605) (← links)
- Defects of cholesterol biosynthesis (Q36550790) (← links)
- Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis (Q36587788) (← links)
- A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature (Q36766833) (← links)
- Identification of a novel polymorphism in X-linked sterol-4-alpha-carboxylate 3-dehydrogenase (Nsdhl) associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice (Q37213430) (← links)
- Syndromes, disorders and maternal risk factors associated with neural tube defects (V). (Q37303341) (← links)
- Perspectives and open problems in the early phases of left-right patterning (Q37351407) (← links)
- Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse (Q37437912) (← links)
- Chemical suppression of defects in mitotic spindle assembly, redox control, and sterol biosynthesis by hydroxyurea (Q37460720) (← links)
- It's never too early to get it Right: A conserved role for the cytoskeleton in left-right asymmetry. (Q37548748) (← links)
- Targeting epidermal lipids for treatment of Mendelian disorders of cornification. (Q37684162) (← links)
- Far from solved: A perspective on what we know about early mechanisms of left–right asymmetry (Q37804719) (← links)
- Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments. (Q37830049) (← links)
- Cholesterol: a novel regulatory role in myelin formation (Q37846006) (← links)
- Malignant skin tumours in patients with inherited ichthyosis (Q37868636) (← links)
- Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects). (Q37974244) (← links)
- Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome (Q38050085) (← links)
- Genodermatoses caused by genetic mosaicism (Q38056850) (← links)
- Steroidal triterpenes of cholesterol synthesis. (Q38096237) (← links)
- Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 (Q38342023) (← links)
- Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis (Q38342329) (← links)