A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

(2017) Alessia Fiorentino et al.   HUMAN MUTATION

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

(2016) So Young Kim et al.   JOURNAL OF GENE MEDICINE

Phenotypic heterogeneity in females with X-linked Alport syndrome

(2015) Samuel C. Allred et al.   CLINICAL NEPHROLOGY

Association ofPRPS1Mutations with Disease Phenotypes

(2015) Rahul Mittal et al.   DISEASE MARKERS

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling

(2015) Marta Gandía et al.   PEDIATRIC RESEARCH

The Relationship Between Skewed X Chromosome Inactivation and the Prognosis of Graves' and Hashimoto's Diseases

(2015) Naoko Ishido et al.   THYROID

Analysis of miR-376 RNA cluster members in the mouse inner ear

(2015) Denise Yan et al.   INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

(2014) Almundher Al-Maawali et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

(2014) Berta Almoguera et al.   Orphanet Journal of Rare Diseases

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

(2014) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

A small disturbance, but a serious disease: The possible mechanism of D52H-mutant of human PRS1 that causes gout

(2013) Peng Chen et al.   IUBMB LIFE

Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline

(2013) Richard S. Legro et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Uric acid induces oxidative stress and growth inhibition by activating adenosine monophosphate-activated protein kinase and extracellular signal-regulated kinase signal pathways in pancreatic β cells

(2013) Yongneng Zhang et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Hyperuricemia in Young Adults and Risk of Insulin Resistance, Prediabetes, and Diabetes: A 15-Year Follow-up Study

(2012) E. Krishnan et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I

(2012) Rocio Moran et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Standards of Medical Care in Diabetes--2012

(2011)   DIABETES CARE

Induction of Oxidative Stress and Human Leukocyte/Endothelial Cell Interactions in Polycystic Ovary Syndrome Patients with Insulin Resistance

(2011) Victor M. Victor et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Sucrose induces fatty liver and pancreatic inflammation in male breeder rats independent of excess energy intake

(2011) Carlos A. Roncal-Jimenez et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

(2010) Arjan P.M. de Brouwer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

(2009) Xuezhong Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

(2007) Véronique Bolduc et al.   JOURNAL OF CLINICAL INVESTIGATION