(Q33645954)

28 July 2017

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

1 reference

autosomal recessive hypophosphatemic rickets

28 July 2017

0 references

author name string

Varda Levy-Litan

1

1 reference

28 July 2017

Eli Hershkovitz

2

1 reference

28 July 2017

Luba Avizov

3

1 reference

28 July 2017

Neta Leventhal

4

1 reference

28 July 2017

Dani Bercovich

5

1 reference

28 July 2017

Vered Chalifa-Caspi

6

1 reference

28 July 2017

Esther Manor

7

1 reference

28 July 2017

Sophia Buriakovsky

8

1 reference

28 July 2017

Yair Hadad

9

1 reference

28 July 2017

James Goding

10

1 reference

28 July 2017

Ruti Parvari

11

1 reference

28 July 2017

language of work or name

English

0 references

publication date

4 February 2010

1 reference

American Journal of Human Genetics

28 July 2017

1 reference

28 July 2017

86

1 reference

28 July 2017

273-278

1 reference

28 July 2017

2

1 reference

Physiologic and pathologic functions of the NPP nucleotide pyrophosphatase/phosphodiesterase family focusing on NPP1 in calcification

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Epistatic effects contribute to variation in BMD in Fischer 344 x Lewis F2 rats

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Lessons from studying monogenic disease for common disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Generalized arterial calcification of infancy: two siblings with prolonged survival

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Deficiencies of physiologic calcification inhibitors and low-grade inflammation in arterial calcification: lessons for cartilage calcification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Identification of human plasma lysophospholipase D, a lysophosphatidic acid-producing enzyme, as autotaxin, a multifunctional phosphodiesterase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Autotaxin has lysophospholipase D activity leading to tumor cell growth and motility by lysophosphatidic acid production

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Inorganic pyrophosphate generation and disposition in pathophysiology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Tandem repeats finder: a program to analyze DNA sequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Biochemical characterization of human PC-1, an enzyme possessing alkaline phosphodiesterase I and nucleotide pyrophosphatase activities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Expression of the nucleoside triphosphate pyrophosphohydrolase PC-1 is induced by basic fibroblast growth factor (bFGF) and modulated by activation of the protein kinase A and C pathways in osteoblast-like osteosarcoma cells

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820183

Enzymic hydrolysis of phosphonate esters

30 October 2018

1 reference

12 December 2020

Distribution of the murine plasma cell antigen PC-1 in non-lymphoid tissues

1 reference

12 December 2020

Mapping of a gene responsible for twy (tip-toe walking Yoshimura), a mouse model of ossification of the posterior longitudinal ligament of the spine (OPLL)

1 reference

12 December 2020

Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A

1 reference

12 December 2020

10.1016/J.AJHG.2010.01.010

Identifiers

DOI

1 reference

28 July 2017

1 reference

28 July 2017

1 reference