Literature DB >> 22539483

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Puja Mehta, Adam Mitchell, Carolyn Tysoe, Richard Caswell, Martina Owens, Tonia Vincent.   

Abstract

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Year:  2012        PMID： 22539483     DOI： 10.1093/rheumatology/kes089

Source DB:  PubMed          Journal:  Rheumatology (Oxford)        ISSN： 1462-0324            Impact factor:   7.580


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  11 in total

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Authors:  Brian L Foster; Francisco H Nociti; Martha J Somerman
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Review 2.  FGF23 and Associated Disorders of Phosphate Wasting.

Authors:  Anisha Gohil; Erik A Imel
Journal:  Pediatr Endocrinol Rev       Date:  2019-09

Review 3.  Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

Authors:  Douglas Ralph; Michael A Levine; Gabriele Richard; Michelle M Morrow; Elizabeth K Flynn; Jouni Uitto; Qiaoli Li
Journal:  Hum Mutat       Date:  2022-05-18       Impact factor: 4.700

Review 4.  Fibroblast growth factor 23: state of the field and future directions.

Authors:  Nisan Bhattacharyya; William H Chong; Rachel I Gafni; Michael T Collins
Journal:  Trends Endocrinol Metab       Date:  2012-08-24       Impact factor: 12.015

5.  Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.

Authors:  Anupam Kotwal; Alejandro Ferrer; Rajiv Kumar; Ravinder J Singh; Vishakantha Murthy; Laura Schultz-Rogers; Michael Zimmermann; Brendan Lanpher; Kristin Zimmerman; Paul R Stabach; Eric Klee; Demetrios T Braddock; Robert A Wermers
Journal:  J Bone Miner Res       Date:  2020-01-16       Impact factor: 6.741

Review 6.  Congenital Conditions of Hypophosphatemia in Children.

Authors:  Erik Allen Imel
Journal:  Calcif Tissue Int       Date:  2020-04-23       Impact factor: 4.333

7.  Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Authors:  Eric T Rush; Britt Johnson; Swaroop Aradhya; Daniel Beltran; Sara L Bristow; Scott Eisenbeis; Norma E Guerra; Stan Krolczyk; Nicole Miller; Ana Morales; Prameela Ramesan; Soodabeh Sarafrazi; Rebecca Truty; Kathryn Dahir
Journal:  J Bone Miner Res       Date:  2021-11-10       Impact factor: 6.390

8.  Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.

Authors:  Qiaoli Li; Jill L Brodsky; Laura K Conlin; Bruce Pawel; Andrew C Glatz; Rachel I Gafni; Leon Schurgers; Jouni Uitto; Hakon Hakonarson; Matthew A Deardorff; Michael A Levine
Journal:  J Invest Dermatol       Date:  2013-09-05       Impact factor: 8.551

9.  Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.

Authors:  Ralf Oheim; Kristin Zimmerman; Nathan D Maulding; Julian Stürznickel; Simon von Kroge; Dillon Kavanagh; Paul R Stabach; Uwe Kornak; Steven M Tommasini; Mark C Horowitz; Michael Amling; David Thompson; Thorsten Schinke; Björn Busse; Thomas O Carpenter; Demetrios T Braddock
Journal:  J Bone Miner Res       Date:  2019-12-05       Impact factor: 6.741

10.  Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.

Authors:  Nathan D Maulding; Dillon Kavanagh; Kristin Zimmerman; Gianfilippo Coppola; Thomas O Carpenter; Nathaniel K Jue; Demetrios T Braddock
Journal:  Bone       Date:  2020-09-24       Impact factor: 4.398
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