An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
about
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesPrioritizing genes for X-linked diseases using population exome data.Glutathione-dependent one-electron transfer reactions catalyzed by a B₁₂ trafficking protein.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.BOD1 Is Required for Cognitive Function in Humans and Drosophila.Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expressionPathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.MECP2 duplication syndrome in a Chinese family.Cobalamin C deficiency in an adolescent with altered mental status and anorexiaUntargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN ReductasesA novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.The necessity for in vivo functional analysis in human medical genetics.Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.Lmbrd1 expression is essential for the initiation of gastrulationThe presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Transcriptional Elongation of HSV Immediate Early Genes by the Super Elongation Complex Drives Lytic Infection and Reactivation from Latency.Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disabilityDystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.Methylmalonic Acidemia Diagnosis by Laboratory Methods.Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.Effects of hypo O-GlcNAcylation on Drosophila development.Methylmalonic acidemia: Current status and research priorities.An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsMolecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria
P2860
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P2860
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
@ast
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
@en
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
@nl
type
label
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
@ast
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
@en
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
@nl
prefLabel
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
@ast
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
@en
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
@nl
P2093
P2860
P50
P3181
P1476
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
@en
P2093
Alison Brebner
Brian Fowler
Charles P Venditti
David S Rosenblatt
David Watkins
Elizabeth A Geiger
Gunter Scharer
Jennifer L Sloan
Johan L K Van Hove
Nathan P Achilly
P2860
P304
P3181
P356
10.1016/J.AJHG.2013.07.022
P407
P577
2013-09-05T00:00:00Z