Associated Papers
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P et al.
Acta Neuropathologica, 2024
CCNF (Cyclin F) as a Candidate Gene for Familial Hodgkin Lymphoma: Additional Evidence for the Importance of Mitotic Checkpoint Defects in Tumorigenesis.
Khoury E et al.
Hemasphere, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 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
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
The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.
Vanzo RJ et al.
Journal of Personalized Medicine, 2020
Diagnostic utility of genetic testing in patients undergoing renal biopsy.
Benson KA et al.
Cold Spring Harbor Molecular Case Studies, 2020
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
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
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
Parathyroid hormone initiates dynamic NHERF1 phosphorylation cycling and conformational changes that regulate NPT2A-dependent phosphate transport.
Zhang Q et al.
The Journal of Biological Chemistry, 2019
A Novel NHERF1 Mutation in Human Breast Cancer and Effects on Malignant Progression.
Yang X et al.
Anticancer Research, 2017
Phosphorylation of ezrin-radixin-moesin-binding phosphoprotein 50 (EBP50) by Akt promotes stability and mitogenic function of S-phase kinase-associated protein-2 (Skp2).
Song GJ et al.
The Journal of Biological Chemistry, 2015
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
Crystal structure of the NHERF1 PDZ2 domain in complex with the chemokine receptor CXCR2 reveals probable modes of PDZ2 dimerization.
Holcomb J et al.
Biochemical and Biophysical Research Communications, 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