Results 121 to 130 of about 6,876 (236)

SAT-360 Out of Sight, out of Mind: PHEX 3’-UTR C.*231A>G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype [PDF]

, 2020
Alexander Williams, Margo Black, Kathryn Dahir   +2 more
openalex   +1 more source

Genotype–phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling

, 2021
Yasuki Ishihara, Yasuhisa Ohata, Shinji Takeyari, Taichi Kitaoka, Makoto Fujiwara, Yukako Nakano, Kenichi Yamamoto, Chieko Yamada, Katsusuke Yamamoto, Toshimi Michigami, Hiroyo Mabe, Takeshi Yamaguchi, Katsuyuki Matsui, Izumi Tamada, Noriyuki Namba, Akiko Yamamoto, Junya Etoh, Azusa Kawaguchi, Rieko Kosugi, Keiichi Ozono, Takuo Kubota   +20 more
openalex   +1 more source

X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia

Bone Reports
X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and ...
Maria Fourikou, Aristea Karipiadou, Athina Ververi, Parthena Savvidou, Nikolaos Laliotis, Vassilios Tsitouras, Stella Stabouli, Emmanuel Roilides, Konstantinos Kollios   +8 more
doaj   +1 more source

In Vivo determination of intracellular pH using pHLuorin proteins in Fusarium Oxysporum [PDF]

, 2016
Premio extraordinario de Trabajo Fin de Máster curso 2013-2014. Molecular and Cellular, Biotechnology and Genetics.El pH extracelular juega un papel clave en los niveles de fosforilación de las MAP quinasas de Fusarium oxysporum.
Serrano Salces, Antonio
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Somatic and Germline Mosaicism for a Mutation of the PHEX Gene Can Lead to Genetic Transmission of X-Linked Hypophosphatemic Rickets That Mimics an Autosomal Dominant Trait [PDF]

, 2006
Katsumi Goji, Kayo Ozaki, Ahmad Hamim Sadewa, Hisahide Nishio, Masafumi Matsuo   +4 more
openalex   +1 more source

A novo missense variant of the PHEX gene in patients with X-linked dominant hypophosphatemia [PDF]

, 2020
Peixuan Cao, Xiangyu Zhu, Leilei Gu, Wei Liu, Jie Li   +4 more
openalex   +1 more source

Osteocyte-Specific Monoclonal Antibody MAb OB7.3 Is Directed Against Phex Protein

Journal of Bone and Mineral Research, 2002
Abstract Osteocytes are the most abundant cells in bone; however, relatively little is known about their properties and functions. The development of monoclonal antibody MAb OB7.3 directed against chicken osteocytes enabled us to purify osteocytes from enzymatically isolated bone cells.
Irene, Westbroek, Karien E, De Rooij, Peter J, Nijweide   +2 more
openaire   +2 more sources

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boywith Hypophosphatemic Rickets

, 2023
Roberto Novizio, Antonio Terracciano, Margherita Lucia De Bernardi, Davide De Brasi, Achille Iolascon, Matteo Della Monica, Francesco Scavuzzo, Domenico Serino, Antonio Novelli, Carmelo Piscopo   +9 more
openalex   +1 more source

Coordinated Maturational Regulation of PHEX and Renal Phosphate Transport Inhibitory Activity: Evidence for the Pathophysiological Role of PHEX in X-Linked Hypophosphatemia

Journal of Bone and Mineral Research, 1999
Abstract The mechanism by which inactivating mutations of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) cause X-linked hypophosphatemia remains unknown. However, recent reports suggest errant PHEX activity in osteoblasts may fail to inactivate a phosphaturic factor produced by these cells. To test
T, Nesbitt, I, Fujiwara, R, Thomas, Z S, Xiao, L D, Quarles, M K, Drezner   +5 more
openaire   +2 more sources

Historia demográfica de las poblaciones de fragata común (Fregata magnificens) de la costa de Brasil: un enfoque utilizando marcadores genéticos microsatélites y cálculo bayesiano aproximado [PDF]

, 2016
The magnificent frigatebird Fregata magnificens is a seabird mainly distributed off the Pacific and Atlantic coast of America. A previous study using genetic data showed that Brazilian and Caribbean populations are isolated, representing independent ...
Pascual Real, Lucas
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