Results 141 to 150 of about 6,876 (236)

Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia [PDF]

, 2012
Nilana MT Barros, Betty Hoac, Raquel Leão Neves, William N. Addison, Diego M. Assis, Monzur Murshed, Adriana K. Carmona, Marc D. McKee   +7 more
openalex   +1 more source

A case of severe X-linked hypophosphatemia caused by a novel PHEX mutation [PDF]

, 2023
Madalena Borges, Maria da Piedade Resende da Costa, Rute Baeta Baptista, Ana Laura Fitas, Telma Francisco, Margarida Abranches   +5 more
openalex   +1 more source

X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant [PDF]

, 2023
Julio Soto, Sabrina I. Sanchez, Kristin Cabral, Alan H. Beggs, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Thomas O. Carpenter   +7 more
openalex   +1 more source

Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein [PDF]

, 2001
Yves Sabbagh
openalex   +1 more source

Novel PHEX Variants and Splicing Mutations in Patients with X-Linked Hypophosphatemia [PDF]

, 2021
Xuesha Xing, Jinlan Gao, Hongwei Ma, Lina Zhang, Fang Li, Leilei Yang, Yang Luo   +6 more
openalex   +1 more source

Refractory rickets: A case of X-linked hypophosphatemic rickets (PHEX gene variation) [PDF]

Dhanya Mohan, Rajesh Thaliyil Veettil, M. Vijayakumar   +2 more
openalex   +1 more source

Structure and Function of Disease-Causing Missense Mutations in the PHEX Gene [PDF]

, 2003
Yves Sabbagh, Guy Boileau, Marcelo Campos, Adriana K. Carmona, Harriet S. Tenenhouse   +4 more
openalex   +1 more source

A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (<i>PHEX</i>) in X-linked hypophosphatemic rickets with mild bone phenotypes

, 2021
Shoko Asano, Saori Sako, Yuka Funasaki, Yumie Takeshita, Yo Niida, Toshinari Takamura   +5 more
openalex   +2 more sources

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

Hearing impairment in X-linked hypophosphatemia: a review. [PDF]

JBMR Plus
Oh S, Sandy JL, Munns CF, Simm PJ, Siafarikas A, Collins L, Wall CL, Craig ME, Rodda CP, Biggin A.   +9 more
europepmc   +1 more source