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
Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1.
DeSmidt AA et al.
Anatomical Record (hoboken, N.j. : 2007), 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Agrahari AK et al.
Metabolic Brain Disease, 2018
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A et al.
Human Mutation, 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
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