Arts syndrome is caused by loss-of-function mutations in PRPS1
about
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutationLoss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2Crystal and EM structures of human phosphoribosyl pyrophosphate synthase I (PRS1) provide novel insights into the disease-associated mutationsPrenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.A small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes goutAssociation of PRPS1 Mutations with Disease PhenotypesPhosphoribosyl Diphosphate (PRPP): Biosynthesis, Enzymology, Utilization, and Metabolic Significance.The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.Using evolutionary conserved modules in gene networks as a strategy to leverage high throughput gene expression queriesPRPS1 mutations: four distinct syndromes and potential treatment.Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients.Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan DiseaseA brief history of TOR.Genetic and phenotypic variability of optic neuropathies.Phosphoribosyl pyrophosphate synthetase activity affects growth and riboflavin production in Ashbya gossypii.Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis.Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.S-adenosyl-L-methionine restores photoreceptor function following acute retinal ischemia.Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.PRPS1 silencing reverses cisplatin resistance in human breast cancer cells.Metabolic gene products have evolved to interact with the cell wall integrity pathway in Saccharomyces cerevisiae.Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.Inborn errors of purine metabolism: clinical update and therapies.Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.X-Linked Sensorineural Hearing Loss: A Literature Review
P2860
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P2860
Arts syndrome is caused by loss-of-function mutations in PRPS1
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Arts syndrome is caused by loss-of-function mutations in PRPS1
@ast
Arts syndrome is caused by loss-of-function mutations in PRPS1
@en
Arts syndrome is caused by loss-of-function mutations in PRPS1
@en-gb
Arts syndrome is caused by loss-of-function mutations in PRPS1
@nl
type
label
Arts syndrome is caused by loss-of-function mutations in PRPS1
@ast
Arts syndrome is caused by loss-of-function mutations in PRPS1
@en
Arts syndrome is caused by loss-of-function mutations in PRPS1
@en-gb
Arts syndrome is caused by loss-of-function mutations in PRPS1
@nl
prefLabel
Arts syndrome is caused by loss-of-function mutations in PRPS1
@ast
Arts syndrome is caused by loss-of-function mutations in PRPS1
@en
Arts syndrome is caused by loss-of-function mutations in PRPS1
@en-gb
Arts syndrome is caused by loss-of-function mutations in PRPS1
@nl
P2093
P2860
P50
P356
P1476
Arts syndrome is caused by loss-of-function mutations in PRPS1
@en
P2093
André B P van Kuilenburg
Arjan P M de Brouwer
Ben C J Hamel
Dorien Lugtenberg
Jennifer A Donald
John A Duley
Lida Zoetekouw
Linda Weaving
Martijn J G Banning
Melissa Roeffen
P2860
P304
P356
10.1086/520706
P407
P577
2007-09-01T00:00:00Z