Results 21 to 30 of about 6,876 (236)

Mutation in Phex gene predisposes BALB/c-Phex(Hyp-Duk)/Y mice to otitis media. [PDF]

PLoS ONE, 2012
Genetic susceptibility underlying otitis media (OM) remains to be understood. We show in this study that mutation in Phex gene predisposes the BALB/c-Phex(Hyp-Duk)/Y (abbreviated Hyp-Duk/Y) mice to OM, which occurs at post-natal day 21 (P21) with an ...
Fengchan Han, Heping Yu, Ping Li, Jiangping Zhang, Cong Tian, Hongbo Li, Qing Yin Zheng   +6 more
doaj   +4 more sources

X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan

Annals of Medicine and Surgery, 2021
Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons.We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically ...
Nawazish Zehra, Lena Jafri, Salman Kirmani, Aysha Habib Khan   +3 more
openalex   +3 more sources

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay [PDF]

Frontiers in Genetics
Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level.
Fengjiao Pan, Ruixiao Zhang, Xuyan Liu, Xiaomeng Shi, Qing Xin, Qing Xin, Dan Qiao, Changying Li, Yan Zhang, Mengke Chen, Wencong Guo, Wencong Guo, Shufang Luan, Leping Shao, Leping Shao   +14 more
doaj   +2 more sources

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. [PDF]

PLoS ONE, 2015
Hypophosphatemic rickets (HR) is a heterogeneous genetic phosphate wasting disorder. The disease is most commonly caused by mutations in the PHEX gene located on the X-chromosome or by mutations in CLCN5, DMP1, ENPP1, FGF23, and SLC34A3. The aims of this
Sara L Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G Sampson, Vijay Kher, Sidharth K Sethi, Edgar A Otto   +6 more
doaj   +3 more sources

OR23-05 Acquired Osteomalacia Associated with Autoantibodies against PHEX [PDF]

J Endocr Soc
Abstract Disclosure: Y. Hoshino: None. K. Okamoto: None. K. Hajime: None. K. Irie: None. S. Kimura: None. N. Hidaka: None. D. Hagiwara: None. M. Nangaku: Dr. Nangaku receives research support and honoraria from Kyowa Kirin.. N. Makita: None. T. Saito: None. N. Ito: The Graduate School of Medicine and Faculty of Medicine, University of
Yoshitomo Hoshino, Kazuo Okamoto, Hajime Kato, Koki Irie, Soichiro Kimura, Naoko Hidaka, Daisuke Hagiwara, Masaomi Nangaku, Noriko Makita, Taku Saito, Nobuaki Ito   +10 more
europepmc   +4 more sources

A vast stem-progenitor cell pool, richly vascular system, and hybrid ossification drive the daily centimeter-scale elongation of bony antlers. [PDF]

Imeta
Bone growth and regeneration remain major clinical challenges. Deer antlers, the fastest‐growing mammalian bone, regenerate via endochondral ossification and elongate up to 2 cm per day, far surpassing the ~2 cm annual growth of human growth plates. Here, we systematically mapped the cellular landscape of the antler growth center (AGC) using single ...
Ba H, He S, Sun HX, Wang X, Zhang H, Deng Q, Yuan Y, Liu C, Wang Z, Li J, Xie L, Tang Y, Wang J, Ma C, Li N, Hu P, Guo Q, Zhang G, Coates DE, Gu Y, Liu C, Wang D, Li C.   +22 more
europepmc   +2 more sources

The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model

Frontiers in Endocrinology, 2023
A Chinese family was identified to have two patients with rickets, an adult female and a male child (proband), both exhibiting signs related to X-linked hypophosphatemic rickets (XLH).
Xiaoming Chen, Xiaoming Chen, Cijing Cai, Cijing Cai, Shaocong Lun, Qiuli Ye, Weiyuan Pan, Yushi Chen, Yuexuan Wu, Taoshan Feng, Faming Su, Choudi Ma, Jiaxin Luo, Meilian Liu, Guoda Ma, Guoda Ma   +15 more
doaj   +1 more source

Ontogeny of Phex/PHEX Protein Expression in Mouse Embryo and Subcellular Localization in Osteoblasts [PDF]

Journal of Bone and Mineral Research, 2002
Abstract PHEX, a phosphate-regulating gene with homologies to endopeptidases on the X chromosome, is mutated in X-linked hypophosphatemia (XLH) in humans and mice (Hyp). Although recent observations indicate that Phex protein is expressed primarily in bone and may play an important role in osteoblast function and bone mineralization, the
D L, Thompson, Y, Sabbagh, H S, Tenenhouse, P C, Roche, M K, Drezner, J L, Salisbury, J P, Grande, E M, Poeschla, R, Kumar   +8 more
openaire   +2 more sources

A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2018
X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate ...
Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin   +6 more
doaj   +1 more source

Effect of Supply and Exhaust Air Velocity on the Enthalpy and Temperature Exchange Efficiency of a Paper Heat Exchanger [PDF]

MATEC Web of Conferences, 2021
Heat Recovery Ventilators (HRV) are gradually becoming more popular in urban cities and buildings as it is able to effectively maintain the indoor air quality while also using minimal amounts of energy.
Hua Hong Jian, Al-Obaidi Abudulkareem Sh. Mahdi, Meng Chin Wai, Ling Neng Hui Kenny James   +3 more
doaj   +1 more source