Associated Papers
Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting.
Petzold F et al.
Nutrients, 2023
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.
Schönauer R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
How the diagnosis and the management of genetic renal phosphate leak impact the life of kidney stone formers?
Tostivint IN et al.
Urolithiasis, 2022
Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system.
Song GJ et al.
Glia, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Dynamic structure of the full-length scaffolding protein NHERF1 influences signaling complex assembly.
Bhattacharya S et al.
The Journal of Biological Chemistry, 2019
Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
Wagner CA et al.
Pediatric Nephrology (berlin, Germany), 2019
A Novel NHERF1 Mutation in Human Breast Cancer and Effects on Malignant Progression.
Yang X et al.
Anticancer Research, 2017
modPDZpep: a web resource for structure based analysis of human PDZ-mediated interaction networks.
Sain N et al.
Biology Direct, 2016
Genetic diseases of renal phosphate handling.
Wagner CA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
Ezrin-anchored protein kinase A coordinates phosphorylation-dependent disassembly of a NHERF1 ternary complex to regulate hormone-sensitive phosphate transport.
Wang B et al.
The Journal of Biological Chemistry, 2012
A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism.
Courbebaisse M et al.
Plos One, 2012
A conformational switch in the scaffolding protein NHERF1 controls autoinhibition and complex formation.
Bhattacharya S et al.
The Journal of Biological Chemistry, 2010
The roles of Na/Pi-II transporters in phosphate metabolism.
Segawa H et al.
Bone, 2009
NHERF1 mutations and responsiveness of renal parathyroid hormone.
Karim Z et al.
The New England Journal of Medicine, 2008
Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.
Yuan JH et al.
Pain Reports, 0