PRPS1 mutations: four distinct syndromes and potential treatment.
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 mutationCharcot-Marie-Tooth disease and intracellular trafficCrystal 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 PhenotypesThe expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.Molecular and clinical studies of X-linked deafness among Pakistani families.Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineagesAdditive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?Genotype phenotype correlations for hearing impairment: approaches to management.One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.Neurotrophic features of human adipose tissue-derived stromal cells: in vitro and in vivo studies.Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery.Analysis of miR-376 RNA cluster members in the mouse inner ear.Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases.Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.Metabolic gene products have evolved to interact with the cell wall integrity pathway in Saccharomyces cerevisiae.High expression of PRPS1 induces an anti-apoptotic effect in B-ALL cell lines and predicts an adverse prognosis in Chinese children with B-ALL.Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.Inborn errors of purine metabolism: clinical update and therapies.X-Linked Sensorineural Hearing Loss: A Literature Review
P2860
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P2860
PRPS1 mutations: four distinct syndromes and potential treatment.
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
PRPS1 mutations: four distinct syndromes and potential treatment.
@ast
PRPS1 mutations: four distinct syndromes and potential treatment.
@en
PRPS1 mutations: four distinct syndromes and potential treatment.
@nl
type
label
PRPS1 mutations: four distinct syndromes and potential treatment.
@ast
PRPS1 mutations: four distinct syndromes and potential treatment.
@en
PRPS1 mutations: four distinct syndromes and potential treatment.
@nl
prefLabel
PRPS1 mutations: four distinct syndromes and potential treatment.
@ast
PRPS1 mutations: four distinct syndromes and potential treatment.
@en
PRPS1 mutations: four distinct syndromes and potential treatment.
@nl
P2093
P2860
P1476
PRPS1 mutations: four distinct syndromes and potential treatment
@en
P2093
Arjan P M de Brouwer
John Duley
Sander B Nabuurs
Willem Frans Arts
P2860
P304
P356
10.1016/J.AJHG.2010.02.024
P407
P577
2010-04-01T00:00:00Z