Results 31 to 40 of about 6,876 (236)

Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. [PDF]

PLoS ONE, 2014
OBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese ...
Hua Yue, Jin-bo Yu, Jin-wei He, Zeng Zhang, Wen-zhen Fu, Hao Zhang, Chun Wang, Wei-wei Hu, Jie-mei Gu, Yun-qiu Hu, Miao Li, Yu-juan Liu, Zhen-Lin Zhang   +12 more
doaj   +1 more source

PHEX mimetic (SPR4-peptide) corrects and improves HYP and wild type mice energy-metabolism. [PDF]

PLoS ONE, 2014
ContextPHEX or DMP1 mutations cause hypophosphatemic-rickets and altered energy metabolism. PHEX binds to DMP1-ASARM-motif to form a complex with α5β3 integrin that suppresses FGF23 expression.
Lesya V Zelenchuk, Anne-Marie Hedge, Peter S N Rowe   +2 more
doaj   +1 more source

A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family

Molecular Genetics & Genomic Medicine, 2020
Background X‐linked hypophosphatemic rickets (XLH) is a heterogeneous genetic phosphate wasting disorder that occupies the majority of inheritable hypophosphatemic rickets (HR).
Baowei Li, Xiong Wang, Xiaodan Hao, Yanran Liu, Yin Wang, Chan Shan, Xiang Ao, Ying Liu, HongChu Bao, Peifeng Li   +9 more
doaj   +1 more source

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background

Endokrynologia Polska, 2021
INTRODUCTION: X-linked hypophosphataemic rickets (XLHR) is the most common form of hypophosphataemic rickets (HR), which is caused by mutations in the PHEX gene.
Monika Obara-Moszynska, Aleksandra Rojek, Zofia Kolesinska, Dorota Jurkiewicz, Krystyna H. Chrzanowska, Marek Niedziela   +5 more
doaj   +1 more source

Acquired Osteomalacia Associated with Autoantibodies against PHEX. [PDF]

N Engl J Med
Hoshino Y, Okamoto K, Ogawa T, Kato H, Irie K, Watanabe S, Kimura S, Hidaka N, Kinoshita Y, Kobayashi H, Hagiwara D, Kogawa M, Takayanagi H, Tanaka S, Nangaku M, Makita N, Burbelo PD, Saito T, Ito N.   +18 more
europepmc   +3 more sources

Raquitismo hipofosfatémico familiar ligado al cromosoma X: Reporte de Caso

Acta Médica Peruana, 2023
El Fósforo es regulado por el riñón y el sistema óseo orquestado principalmente por la acción de la parathormona (PTH) y una molécula recientemente descrita como el factor de crecimiento fibroblástico 23 (FGF-23).
Cristian León-Rabanal, Jenny Ponce Gambini   +1 more
doaj   +1 more source

Nationwide Turkish Cohort Study of Hypophosphatemic Rickets

JCRPE, 2020
Objective:Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations.
Zeynep Şıklar, Serap Turan, Abdullah Bereket, Firdevs Baş, Tülay Güran, Azad Akberzade, Ayhan Abacı, Korcan Demir, Ece Böber, Mehmet Nuri Özbek, Cengiz Kara, Şükran Poyrazoğlu, Murat Aydın, Aslı Kardelen, Ömer Tarım, Erdal Eren, Nihal Hatipoğlu, Muammer Büyükinan, Nesibe Akyürek, Semra Çetinkaya, Elvan Bayramoğlu, Beray Selver Eklioğlu, Ahmet Uçaktürk, Saygın Abalı, Damla Gökşen, Yılmaz Kor, Edip Ünal, İhsan Esen, Ruken Yıldırım, Onur Akın, Atilla Çayır, Emine Dilek, Birgül Kırel, Ahmet Anık, Gönül Çatlı, Merih Berberoğlu   +35 more
doaj   +1 more source

A pathogenic variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2021
X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia.
In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
doaj   +1 more source

A new metabolic path in type 3 rickets. [PDF]

FEBS J
Rickets, a bone disorder, was historically categorised into either nutritional (vitamin D deficiency) or genetic forms involving loss‐of‐function mutations in mineral metabolism. Recently, a new mechanism, type 3 rickets, was discovered to be caused by a gain‐of‐function mutation in CYP3A4 (Ile301Thr).
Senda T, Hirota Y.
europepmc   +2 more sources

Burosumab therapy in children with x-linked hypophosphatemia [PDF]

, 2018
BACKGROUND X-linked hypophosphatemia is characterized by increased secretion of fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently rickets, osteomalacia, and skeletal deformities.
Boot, Annemieke M, Carpenter, Thomas O, Chen, Chao-Yin, Hogler, Wolfgang, Imel, Erik A, Kakkis, Emil, Linglart, Agnes, Mao, Meng, Martin, Javier San, Padidela, Raja, Portale, Anthony A, Skrinar, Alison, van\u27t Hoff, William, Whyte, Michael P   +13 more
core   +2 more sources