A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium (Q24308202)

GOA release 2020-03-11

cell-cell signaling

1 reference

Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23

GOA release 2020-03-11

language of work or name

English

0 references

publication date

October 1995

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published in

Nature Genetics

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volume

11

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issue

2

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page(s)

130-6

series ordinal

3

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cites work

1 reference

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ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1

20 April 2017

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Cloning and sequencing of a human endothelin converting enzyme in renal adenocarcinoma (ACHN) cells producing endothelin-2

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Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity

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Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein

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Basic local alignment search tool

20 April 2017

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VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

20 April 2017

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7 January 2021

Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia

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7 January 2021

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis

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7 January 2021

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22

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7 January 2021

Bridging markers defining the map position of X linked hypophosphataemic rickets.

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7 January 2021

Parabiosis suggests a humoral factor is involved in X-linked hypophosphatemia in mice

1 reference

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7 January 2021

Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect

1 reference

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7 January 2021

Localization of a renal sodium-phosphate cotransporter gene to human chromosome 5q35.

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7 January 2021

Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterization

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7 January 2021

Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets

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7 January 2021

The Gy mutation: another cause of X-linked hypophosphatemia in mouse

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7 January 2021

Flanking markers define the X-linked hypophosphatemic rickets gene locus

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7 January 2021

New markers for linkage analysis of X-linked hypophosphataemic rickets

1 reference

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7 January 2021

Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1?22.2)

1 reference

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7 January 2021

A YAC contig spanning the hypophosphatemic rickets disease gene (HYP) candidate region

1 reference

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7 January 2021

Organization of the gene encoding common acute lymphoblastic leukemia antigen (neutral endopeptidase 24.11): multiple miniexons and separate 5' untranslated regions

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7 January 2021

Molecular cloning and primary structure of Kell blood group protein

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7 January 2021

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

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7 January 2021

A simple method for displaying the hydropathic character of a protein

1 reference

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7 January 2021

Downregulation of enkephalin-mediated inflammatory responses by CDl0/neutral endopeptidase 24.11

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7 January 2021

CD10/neutral endopeptidase 24.11 hydrolyzes bombesin-like peptides and regulates the growth of small cell carcinomas of the lung

1 reference

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7 January 2021

Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp mice

1 reference

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Human haploinsufficiency — one for sorrow, two for joy

1 reference

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7 January 2021

Purification and partial characterization of the erythrocyte Kx protein deficient in McLeod patients

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The direct screening of cosmid libraries with YAC clones

1 reference

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7 January 2021

Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries

1 reference

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7 January 2021

Construction and preliminary analysis of the ICRF human P1 library

1 reference

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7 January 2021

Preparation and screening of an arrayed human genomic library generated with the P1 cloning system

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7 January 2021

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

1 reference

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7 January 2021

https://api.crossref.org/works/10.1038%2FNG1095-130

1 reference

7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

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7 January 2021

A strategy for the selection of transcribed sequences in the Xq28 region

1 reference

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7 January 2021

A sequence assembly and editing program for efficient management of large projects

1 reference

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7 January 2021

Identifiers

DOI

10.1038/NG1095-130

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1052821225

0 references

Fatcat ID

release_a4elbh6vlrb6vlkfx4bplk5t6i

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

7550339

1 reference

Consolidated OpenCitations Corpus – April 2017