PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets-Reference-Cited by-同舟云学术

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PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets

Published:2009-02-15 Issue:4 Volume:125 Page:401-411
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Gaucher Céline,Walrant-Debray Odile,Nguyen Thy-Minh,Esterle Laure,Garabédian Michèle,Jehan Frédéric

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-009-0631-z.pdf

Reference35 articles.

1. Albright F, Butler AM, Bloomberg E (1937) Rickets resistant to vitamin D therapy. Am J Dis Child 54:529–547

2. Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (2006) 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. Am J Hum Genet 78:179–192

3. Bianchetti L, Oudet C, Poch O (2002) M13 endopeptidases: new conserved motifs correlated with structure, and simultaneous phylogenetic occurrence of PHEX and the bony fish. Proteins 47:481–488

4. Bland ND, Pinney JW, Thomas JE, Turner AJ, Isaac RE (2008) Bioinformatic analysis of the neprilysin (M13) family of peptidases reveals complex evolutionary and functional relationships. BMC Evol Biol 8:16

5. Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP (2008) A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci USA 105:3455–3460

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1. Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews;2024-09-04

2. Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay;Frontiers in Genetics;2024-05-22

3. Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation;The Journal of Clinical Endocrinology & Metabolism;2024-03-05

4. X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia;Bone Reports;2024-03

5. Oral health and oral-health-related quality of life in people with X-linked hypophosphatemia;BMC Oral Health;2024-02-21

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