Results 181 to 190 of about 5,354 (221)

X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.

J Clin Endocrinol Metab
Khan AA, Ali DS, Appelman-Dijkstra NM, Carpenter TO, Chaussain C, Imel EA, Jan de Beur SM, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Cohen-Solal M, Crowley RK, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Morrison A, Portale AA, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Ward LM, Guyatt G, Brandi ML.   +43 more
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Glucocorticoid regulation of the murine PHEX gene

American Journal of Physiology-Renal Physiology, 2002
The phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) is a member of the neutral endopeptidase family, which is expressed predominantly on the plasma membranes of mature osteoblasts and osteocytes. Although it is known that the loss of PHEX function results in X-linked hypophosphatemic rickets, characterized by ...
Eric R, Hines, James F, Collins, Marci D, Jones, Samantha H, Serey, Fayez K, Ghishan   +4 more
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Molecular cloning of the murine PHEX gene promoter

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 2000
We report the novel cloning of the murine PHEX promoter, the gene that is mutated in X-linked hypophosphatemic rickets (XLH). Four promoter/reporter gene constructs, -133/+104, -542/+104, -1061/+104, and -2866/+104, showed significant luciferase activity (4.9-13.2-fold over background) when transfected into rat osteogenic sarcoma (UMR-106) cells.
E R, Hines, J F, Collins, F K, Ghishan
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Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets

Nephron Physiology, 2010
<i>Introduction:</i> X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations. <i>Clinical Picture:</i> We describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu⁹⁶X (c.286G>T) causing XLH in a mother and ...
M, Chandran, C L, Chng, Y, Zhao, Y M, Bee, L Y, Phua, B L, Clarke   +5 more
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Hypophosphatemic rickets caused by a novel PHEX gene mutation in an Indian girl

Journal of Pediatric Endocrinology and Metabolism, 2014
We report a girl who presented with clinical and biochemical features of hypophosphatemic rickets. Mutational analysis detected a heterozygous nonsynonymous sequence variation in exon 11 of the PHEX gene (NM_000444.4:c.1216T>C, NP_000435.3:p.Cys406Arg).
Devi, Dayal, Sheetal, Sharda, Savita Verma, Attri, Rakesh, Kumar   +3 more
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[From gene to disease; hypophosphataemic rickets and the PHEX gene]

Nederlands tijdschrift voor geneeskunde, 2006
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Monnens, L.A.H., Levtchenko, E.N.
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Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

Human Mutation, 2000
We have carried out a mutation screening of the PHEX gene in Finnish patients with hypophosphatemia. A total of 100% (5/5) of the familial HYP patients (X-linked hypophosphatemia) and 93% (14/15) of the sporadic cases were found to carry a mutation in the PHEX gene. We identified 18 mutations, of which 15 were novel.
H, Tyynismaa, I, Kaitila, K, Näntö-Salonen, M, Ala-Houhala, T, Alitalo   +4 more
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Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

Biochemical and Biophysical Research Communications, 2012
X-linked hypophosphatemia (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, short stature, and rachitic manifestations. The related gene with inactivating mutations associated with XLH has been identified as PHEX, which is a ...
Qing-lin, Kang, Jia, Xu, Zeng, Zhang, Jin-wei, He, Lian-song, Lu, Wen-zhen, Fu, Zhen-lin, Zhang   +6 more
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PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets

Journal of Pediatric Endocrinology and Metabolism, 2013
X-linked hypophosphatemic (XLH) rickets is caused by inactivating mutations in the PHEX gene, which encodes a metalloprotease that cleaves small peptide hormone. So far there are only a few reports on XLH patients from China. In the present study, we report on six XLH patients from one family.
Lili, Yang, Jianbin, Yang, Xinwen, Huang
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