Associated Papers
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W et al.
Scientific Reports, 2024
Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting.
Petzold F et al.
Nutrients, 2023
High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.
Marini F et al.
European Journal of Endocrinology, 2023
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
Brazier F et al.
Scientific Reports, 2023
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
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
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
Dynamic structure of the full-length scaffolding protein NHERF1 influences signaling complex assembly.
Bhattacharya S et al.
The Journal of Biological Chemistry, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
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
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Ligand-induced dynamic changes in extended PDZ domains from NHERF1.
Bhattacharya S et al.
Journal of Molecular Biology, 2013
Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.
Shen H et al.
Plos One, 2013
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 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