A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
about
The SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genomeMutations in the gene encoding the human matrix Gla protein cause Keutel syndromeX-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsSulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2Cloning and characterization of two extracellular heparin-degrading endosulfatases in mice and humansArylsulfatase G, a novel lysosomal sulfataseCharacterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase proteinMolecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG)Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationshipBiochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctataSUMF1 enhances sulfatase activities in vivo in five sulfatase deficienciesMolecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsUp-regulation of steroid sulphatase activity in HL60 promyelocytic cells by retinoids and 1alpha,25-dihydroxyvitamin D3A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.A new type of bacterial sulfatase reveals a novel maturation pathway in prokaryotes.Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher.Escherichia coli K1 aslA contributes to invasion of brain microvascular endothelial cells in vitro and in vivoChondrodysplasia punctata and maternal systemic lupus erythematosus.Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctataA first-generation X-inactivation profile of the human X chromosome.X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.Identification of novel single nucleotide polymorphisms associated with acute respiratory distress syndrome by exome-seqMolecular-pathogenetic classification of genetic disorders of the skeleton.Teratogen update: fetal effects after in utero exposure to coumarins overview of cases, follow-up findings, and pathogenesis.Teratogen-induced limb defects.Long-term follow-up of females with unbalanced X;Y translocations-reproductive and nonreproductive consequences.Expression of genes from the human active and inactive X chromosomes.Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiencyFatal hemorrhage in mice lacking gamma-glutamyl carboxylase.Di Sala syndromeMucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.Matching the Diversity of Sulfated Biomolecules: Creation of a Classification Database for Sulfatases Reflecting Their Substrate Specificity.Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum.A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy.Assaying embryotoxicity in the test tube: current limitations of the embryonic stem cell test (EST) challenging its applicability domain.Heparan N-sulfatase: cysteine 70 plays a role in the enzyme catalysis and processing.
P2860
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P2860
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
description
1995 nî lūn-bûn
@nan
1995 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@ast
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@en
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@en-gb
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@nl
type
label
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@ast
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@en
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@en-gb
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@nl
prefLabel
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@ast
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@en
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@en-gb
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@nl
P2093
P50
P3181
P1433
P1476
A cluster of sulfatase genes o ...... tions for warfarin embryopathy
@en
P2093
G A Rappold
J Levilliers
L Sheffield
P Maroteaux
P3181
P356
10.1016/0092-8674(95)90367-4
P407
P577
1995-04-01T00:00:00Z