Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin
about
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylaseExpression of CYP27A, a gene encoding a vitamin D-25 hydroxylase in human liver and kidneyTwo novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosisDifferences in the regulation of the classical and the alternative pathway for bile acid synthesis in human liver. No coordinate regulation of CYP7A1 and CYP27A127-Oxygenation of C27-sterols and 25-hydroxylation of vitamin D3 in kidney: cloning, structure and expression of pig kidney CYP27AFine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigreesSuppression of sterol 27-hydroxylase mRNA and transcriptional activity by bile acids in cultured rat hepatocytesAtherosclerosis and sterol 27-hydroxylase: evidence for a role of this enzyme in elimination of cholesterol from human macrophagesCerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.Diagnosis of inherited metabolic disorders affecting the nervous systemA novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristicsUpdate on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry methodA blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.Systematic review of autosomal recessive ataxias and proposal for a classification.Gastric acid, calcium absorption, and their impact on bone health.Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis.Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.Hormonal regulation of the human sterol 27-hydroxylase gene CYP27A1.Overexpression of CYP27 in hepatic and extrahepatic cells: role in the regulation of cholesterol homeostasis.Side chain hydroxylations in bile acid biosynthesis catalyzed by CYP3A are markedly up-regulated in Cyp27-/- mice but not in cerebrotendinous xanthomatosis.Assay method for mitochondrial sterol 27-hydroxylase with 7alpha-hydroxy-4-cholesten-3-one as a substrate in the rat liver.Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition.Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.A Case of Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.Historical aspects of cerebrotendinous xanthomatosis (CTX).
P2860
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P2860
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin
description
1993 nî lūn-bûn
@nan
1993 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Frameshift and splice-junction ...... sis in Jews or Moroccan origin
@ast
Frameshift and splice-junction ...... sis in Jews or Moroccan origin
@en
Frameshift and splice-junction ...... sis in Jews or Moroccan origin
@nl
type
label
Frameshift and splice-junction ...... sis in Jews or Moroccan origin
@ast
Frameshift and splice-junction ...... sis in Jews or Moroccan origin
@en
Frameshift and splice-junction ...... sis in Jews or Moroccan origin
@nl
prefLabel
Frameshift and splice-junction ...... sis in Jews or Moroccan origin
@ast
Frameshift and splice-junction ...... sis in Jews or Moroccan origin
@en
Frameshift and splice-junction ...... sis in Jews or Moroccan origin
@nl
P2093
P2860
P3181
P356
P1476
Frameshift and splice-junction ...... sis in Jews or Moroccan origin
@en
P2093
E Leitersdorf
L Klapholz
R Levitzki
S P Schwartz
V M Berginer
P2860
P304
P3181
P356
10.1172/JCI116484
P407
P577
1993-06-01T00:00:00Z