Results 191 to 200 of about 5,354 (221)

[Analysis of PHEX gene mutation in a hypophosphatasia pedigree].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2014
To screen potential mutations of PHEX gene in a family featuring hypophosphatemic rickets in order to confirm the molecular diagnosis and pathogenetic mechanism.Genomic DNA was extracted from peripheral venous blood samples. DNA sequence of PHEX gene was derived from UCSC database, and primers for its coding region were designed with Primer premier 5.0.
Ming-yi, Ma, Hua, Li, Yan-sen, Cai
openaire   +1 more source

Unusually severe hypophosphatemic rickets caused by a novel and complex re‐arrangement of the PHEX gene

American Journal of Medical Genetics Part A, 2014
X‐linked hypophosphatemia (XLH) is caused by mutations in PHEX. Several other genetic forms of hypophosphatemia have also been described. These disorders share variable clinical presentation ranging from mild hypophosphatemia to severe lower extremity bowing.
Lohman Martina, Makitie Outi, Pekkarinen Tuula, Lohman Martina, Makitie Outi, Pekkarinen Tuula   +5 more
openaire   +2 more sources

The role of the PHEX gene (PEX) in families with X-linked hypophosphataemic rickets

Current Opinion in Nephrology and Hypertension, 1998
For over a hundred years, the bane of rickets (a disease of bone), has been prominent in those countries that have participated in, and seeded, the industrial revolution. Industrialisation had major effects of the demography of populations, and many people moved to dark, heavily industrialised cities to find work.
openaire   +2 more sources

Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets

Calcified Tissue International, 2007
X-linked dominant hypophosphatemia (XLH, OMIM307800), the most prevalent form of inherited rickets in humans, is a dominant disorder of phosphate homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal phosphate wasting.
Weibo, Xia, Xunwu, Meng, Yan, Jiang, Mei, Li, Xiaoping, Xing, Li, Pang, Ou, Wang, Yu, Pei, Li-Yun, Yu, Yue, Sun, Yingying, Hu, Xueying, Zhou   +11 more
openaire   +2 more sources

PTHrP(1‐34)‐mediated repression of the PHEX gene in osteoblastic cells involves the transcriptional repressor E4BP4

Journal of Cellular Physiology, 2012
AbstractPHosphate‐regulating gene with homology to Endopeptidase on the X chromosome (PHEX) has been identified as the gene mutated in X‐linked hypophosphatemia (XLH) syndrome, the most prevalent form of rickets in humans. The predominant expression of PHEX in bones and teeth, and the defective mineralization of these tissues in XLH patients indicate ...
Martin, Pellicelli, Maryam, Taheri, Mathieu, St-Louis, Véronique, Bériault, Luc, Desgroseillers, Guy, Boileau, Alain, Moreau   +6 more
openaire   +2 more sources

[Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To explore the molecular basis for three pedigrees affected with hypophosphatemia vitamin D resistant rickets (X-linked hypophosphatemia, XLH).Peripheral blood samples from the three pedigrees were collected. Following DNA extraction, the 11 exons and flanking regions of the PHEX gene were subjected to PCR amplification and direct sequencing ...
Shu, Zhang, Qigang, Zhang, Longfei, Cheng, Xiaoli, Huang, Yuan, Peng, Zhe, Liang, Haowei, Guo, Qiong, Pan   +7 more
openaire   +1 more source

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene.

Journal of applied genetics, 2004
We present twenty-nine PHEX gene mutations extending our previous work, giving it to a total of 37 different mutations identified in Polish patients with familial or sporadic X-linked hypophosphatemia. Deletions, insertions and nucleotide substitutions leading to frameshift (27%), stop codon (29%), splice site (24%), and missense mutations (20%) were ...
E, Popowska, E, Pronicka, A, Sułek, D, Jurkiewicz, P, Rowe, E, Rowinska, M, Krajewska-Walasek   +6 more
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[Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2014
The clinical data of three Chinese children who had been definitely diagnosed with X-link dominate hypophosphatemic rickets (XLH) by gene mutation analysis of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) were retrospectively studied and the relevant literature was reviewed.
Shuang, Liu, Min, Wei, Juan, Xiao, Chang-Yan, Wang, Zheng-Qing, Qiu   +4 more
openaire   +1 more source

Cancer epigenetics in clinical practice

Ca-A Cancer Journal for Clinicians, 2023
Veronica Davalos, Manel Esteller
exaly  

Systemic therapy for hormone receptor‐positive/human epidermal growth factor receptor 2‐negative early stage and metastatic breast cancer

Ca-A Cancer Journal for Clinicians, 2023
Laura A Huppert, Hope S Rugo
exaly