Results 141 to 150 of about 5,354 (221)

Review for "Functional Characterization of <scp>PHEX</scp> Gene Variants in Children with X‐linked Hypophosphatemic Rickets Shows no Evidence of <scp>Genotype‐Phenotype</scp> Correlation"

, 2020
Weibo Xia
openalex   +2 more sources

Review for "Functional Characterization of <scp>PHEX</scp> Gene Variants in Children with X‐linked Hypophosphatemic Rickets Shows no Evidence of <scp>Genotype‐Phenotype</scp> Correlation"

, 2019

openalex   +1 more source

Regulation of osteoblast development by Bcl-2-associated athanogene-1 (BAG-1)

BCL-2-associated athanogene-1 (BAG-1) is expressed by osteoblast-lineage cells; early embryonic lethality in Bag-1 null mice, however, has limited the investigation of BAG-1 function in osteoblast development.
Cutress, Ramsey, Greenhough, Joanna, Oreffo, Richard, Papadakis, Manos, Tare, Rahul, Townsend, Paul   +5 more
core   +1 more source

P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022

, 2023
Nicole L. Miller, Omid Japalaghi, Eric T. Rush, Kathryn Dahir, Prameela Ramesan, Heather M. McLaughlin   +5 more
openalex   +1 more source

Predicting the Impact of PHEX, FGF23 and DMP1 Gene Variants Found in Malaysian Malay Patients with Hypophosphataemic Rickets Through In Silico Analysis of Protein Function and mRNA Secondary Structure

, 2019
Nurul Nadirah Razali, Hwu Ting Tzer, Hwa Ling King, Marina Kennerson, Karuppiah Thilakavathy   +4 more
openalex   +1 more source

Normal Growth and Muscle Dysfunction in X-Linked Hypophosphatemic Rickets Associated with a Novel Mutation in the PHEX Gene [PDF]

, 2008
Polyzois Makras, Neveen A. T. Hamdy, Sarina G. Kant, Socrates E. Papapoulos   +3 more
openalex   +1 more source

Proton-selective conductance and gating of the lysosomal cation channel TMEM175. [PDF]

Proc Natl Acad Sci U S A
Schulze T, Sprave T, Groebe C, Hendrik Krumbach J, Behringer M, Bazzone A, Zerlotti R, Fertig N, Althaus M, Hamacher K, Thiel G, Grimm C, Rauh O.   +12 more
europepmc   +1 more source

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic <i>PHEX</i> variants. [PDF]

JBMR Plus
Park YA, Gong JY, Chiang C, Trainer AH, Yates CJ.   +4 more
europepmc   +1 more source

PHEX Gene Dosage Drives Meniere’s Disease and Related Audiovestibular Phenotypes in X-Linked Hypophosphatemia [PDF]

Paula Robles-Bolívar, David Bächinger, Anuradha Bose, Kimberly Ramirez, Alison F. Brown, Amy F. Juliano, José A. López‐Escámez, Sharon G. Kujawa, Eva S. Liu, Sami S. Amr, Steven D. Rauch, Andreas H. Eckhard, Divya A. Chari   +12 more
openalex   +1 more source