Associated Papers
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Human PRPS1 filaments stabilize allosteric sites to regulate activity.
Hvorecny KL et al.
Nature Structural & Molecular Biology, 2023
Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1.
DeSmidt AA et al.
Anatomical Record (hoboken, N.j. : 2007), 2020
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
Yang BY et al.
Clinical Rheumatology, 2020
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Agrahari AK et al.
Metabolic Brain Disease, 2018
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
Maruyama K et al.
Brain & Development, 2016
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Gandía M et al.
Pediatric Research, 2015
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Robusto M et al.
European Journal of Human Genetics : Ejhg, 2015
Crystal and EM structures of human phosphoribosyl pyrophosphate synthase I (PRS1) provide novel insights into the disease-associated mutations.
Chen P et al.
Plos One, 2015
Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R et al.
Disease Markers, 2015
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 mutation.
Synofzik M et al.
Orphanet Journal of Rare Diseases, 2014
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
Liu XZ et al.
International Journal of Audiology, 2013
The genetics of hyperuricaemia and gout.
Reginato AM et al.
Nature Reviews. Rheumatology, 2012
Nonsyndromic X-linked hearing loss.
Song MH et al.
Frontiers in Bioscience (elite Edition), 2012
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Liu X et al.
American Journal of Human Genetics, 2010