Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets. (Q48312233)

http://europepmc.org/abstract/MED/28383812

10 February 2018

title

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets. (English)

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http://europepmc.org/abstract/MED/28383812

10 February 2018

1 reference

14

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4 June 2020

author name string

Ayla Guven

1

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4 June 2020

Roua A Al-Rijjal

2

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4 June 2020

Huda A BinEssa

3

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4 June 2020

Durmuş Dogan

4

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4 June 2020

Yılmaz Kor

5

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4 June 2020

Minjing Zou

6

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4 June 2020

Namik Kaya

7

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4 June 2020

Anwar F Alenezi

8

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4 June 2020

Suna Hancili

9

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4 June 2020

Ömer Tarım

10

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4 June 2020

Essa Y Baitei

11

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4 June 2020

Walaa E Kattan

12

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4 June 2020

Brian F Meyer

13

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publication date

6 April 2017

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http://europepmc.org/abstract/MED/28383812

10 February 2018

published in

Clinical Endocrinology

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4 June 2020

volume

87

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4 June 2020

page(s)

103-112

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4 June 2020

issue

1

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Incidence and prevalence of nutritional and hereditary rickets in southern Denmark

4 June 2020

cites work

1 reference

New perspectives on the biology and treatment of X-linked hypophosphatemic rickets

21 January 2018

1 reference

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

21 January 2018

1 reference

Skeletal secretion of FGF-23 regulates phosphate and vitamin D metabolism

21 January 2018

1 reference

PHEX, FGF23, DMP1 and beyond

21 January 2018

1 reference

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

21 January 2018

1 reference

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

21 January 2018

1 reference

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

21 January 2018

1 reference

Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.

21 January 2018

1 reference

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene

21 January 2018

1 reference

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets

21 January 2018

1 reference

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

21 January 2018

1 reference

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

21 January 2018

1 reference

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation

21 January 2018

1 reference

Renal phosphate handling in human--what can we learn from hereditary hypophosphataemias?

21 January 2018

1 reference

Evidence for genetic heterogeneity in Dent's disease.

21 January 2018

1 reference

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

21 January 2018

1 reference

X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations

21 January 2018

1 reference

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets

21 January 2018

1 reference

Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

21 January 2018

1 reference

KRAS(G12D)-mediated oncogenic transformation of thyroid follicular cells requires long-term TSH stimulation and is regulated by SPRY1.

21 January 2018

1 reference

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

21 January 2018

1 reference

The Phyre2 web portal for protein modeling, prediction and analysis

21 January 2018

1 reference

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene

21 January 2018

1 reference

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.

21 January 2018

1 reference

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

21 January 2018

1 reference

Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residues

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CEN.13347

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28383812%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

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