About: Mutational analysis of PHEX gene in X-linked hypophosphatemia

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About: Mutational analysis of PHEX gene in X-linked hypophosphatemia Goto Sponge NotDistinct Permalink

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scientific article published on 01 October 1998

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в жовтні 1998 (uk) article scientifique publié en 1998 (fr) im Oktober 1998 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'ochobre de 1998 (ast) scientific article published on 01 October 1998 (en)
publication date	wds:Q77398352-7B5C906B-45C7-43C9-B051-979178B8EE57
publication date	1998-10-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q77398352-068B5BAD-6723-40C8-8BEF-563EFC8CD554 wds:Q77398352-0899D8DF-D98E-4D21-8A34-0B597D1CBE11 wds:Q77398352-091FDDA2-3284-4484-B732-FE1D894BD4ED wds:Q77398352-0E46CA06-882A-4DA1-BDD7-FC3E492570E2 wds:Q77398352-0E48B225-C12A-4EB5-A5D9-EACBE6A22712 wds:Q77398352-16F3B3F4-A446-4A63-9925-78F0AD0485E8 wds:Q77398352-24D73AD0-6D27-44D1-85A2-63FB9BF824F0 wds:Q77398352-51302547-A2AA-4C86-8F79-850EE96EB916 wds:Q77398352-6E44F836-DD50-4A28-BC35-722F57CF3796 wds:Q77398352-7D8BED49-D4E1-4AF8-BA74-6AC09DC9ABA1 wds:Q77398352-9D48C683-7B94-435E-BD3B-9B17C638A19F wds:Q77398352-B7FC43D0-283C-40D1-BE47-5455C50E1CAF wds:Q77398352-C5961C8A-A1F5-49DE-A5D4-AA2932BA4EC2
author name string	Smith C Schmidtke J Schlessinger D Shaw N Shah B Trump D Wooding C Holm I Dixon PH Gertner JM Tau C Grieff M Christie PT
rdfs:label	Mutational analysis of PHEX gene in X-linked hypophosphatemia (en) Mutational analysis of PHEX gene in X-linked hypophosphatemia (nl)
skos:prefLabel	Mutational analysis of PHEX gene in X-linked hypophosphatemia (en) Mutational analysis of PHEX gene in X-linked hypophosphatemia (nl)
name	Mutational analysis of PHEX gene in X-linked hypophosphatemia (en) Mutational analysis of PHEX gene in X-linked hypophosphatemia (nl)
author	wds:Q77398352-19026E5B-9BBF-45D6-9DAD-A12EB4B3837E wds:Q77398352-324FD7F3-D286-49CE-BC51-6CDA3D719BBA
author	Rajesh Thakker Michael P. Whyte
title	wds:Q77398352-6B2F72B3-1E42-4A92-8978-05F90B58C957
title	Mutational analysis of PHEX gene in X-linked hypophosphatemia (en)
page(s)	wds:Q77398352-A50C8461-46FA-49C5-A07B-654CC48CEF11
page(s)	3615-3623
instance of	wds:Q77398352-DABC801E-8F34-491F-8240-C3135CB380A2
instance of	scholarly article
main subject	wds:Q77398352-6A0B12A5-6D7A-4F28-9D8E-BD0FB49159FF
main subject	mutational analysis
PubMed ID	wds:Q77398352-39716515-4D75-43F0-A0E3-0361333E3B24
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9768674
PubMed ID	9768674
published in	wds:Q77398352-AF2B2F9B-F77D-41C5-B231-9A40D6C574EA
published in	The Journal of Clinical Endocrinology and Metabolism
issue	wds:Q77398352-79CDA8BD-CD6A-48AE-AA74-27BB3909CE11
volume	wds:Q77398352-FCD7658E-92EC-40EF-BEB6-57D21321F8D5
issue	10
volume	83
DOI	wds:Q77398352-905E5E3B-D8F1-44FD-8BFD-E0715DF75E4A
DOI	http://dx.doi.org/10.1210/JCEM.83.10.5180
DOI	10.1210/JCEM.83.10.5180
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q77398352
is cites work of	Renal phosphate wasting due to tumor-induced osteomalacia: a frequently delayed diagnosis PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Inhibition of proprotein convertase SKI-1 blocks transcription of key extracellular matrix genes regulating osteoblastic mineralization Recent advances in the renal-skeletal-gut axis that controls phosphate homeostasis Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations Fibroblast growth factor 23 regulates renal 1,25-dihydroxyvitamin D and phosphate metabolism via the MAP kinase signaling pathway in Hyp mice Hereditary disorders of renal phosphate wasting Endocrine crosstalk between muscle and bone The molecular background to hypophosphataemic rickets Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia Neither absence nor excess of FGF23 disturbs murine fetal-placental phosphorus homeostasis or prenatal skeletal development and mineralization. Genetic Approaches to Metabolic Bone Diseases Recent Advances in the Genetics of Fractures in Osteoporosis Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type. A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature X-linked hypophosphatemia and growth. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability. PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country
is cites work of	wds:Q34503103-B8208048-4B6C-4B5D-A5EE-8B4C6F791685 wds:Q28301682-4319B9CF-C82F-41F3-A0FD-F62F16B7B913 wds:Q36963886-27AD181F-0CD2-4A01-967D-33483B8FFC76 wds:Q35538411-1C990A6F-D3C0-4D08-9EBB-78E174B37157 wds:Q37798160-82E961A1-17CF-47CC-9074-69C29F8F20D4 wds:Q57790364-31426231-B0A8-4ACA-90A8-41137B282717 wds:Q92970665-740E9A50-A8A3-4569-BEA3-5A049784E7BD

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