(Q48054327)

8 February 2018

title

Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia (English)

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8 February 2018

author

Fiona Francis

2

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8 February 2018

Thomas Meitinger

7

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8 February 2018

Hans Lehrach

6

object named as

Lehrach H

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8 February 2018

Strom TM

1

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8 February 2018

Lorenz B

3

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8 February 2018

Böddrich A

4

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8 February 2018

Econs MJ

5

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8 February 2018

publication date

1 February 1997

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8 February 2018

published in

Human Molecular Genetics

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8 February 2018

volume

6

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8 February 2018

issue

2

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8 February 2018

page(s)

165-171

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8 February 2018

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

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1 reference

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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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Molecular characterization of human and bovine endothelin converting enzyme (ECE-1)

21 January 2018

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

21 January 2018

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Endothelin-converting enzyme-2 is a membrane-bound, phosphoramidon-sensitive metalloprotease with acidic pH optimum

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Molecular cloning and primary structure of Kell blood group protein

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

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

21 January 2018

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Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse.

21 January 2018

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Variable phosphate-mediated regulation of vitamin D metabolism in the murine hypophosphatemic rachitic/osteomalacic disorders

21 January 2018

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Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse

21 January 2018

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Investigation of the Mechanism for Abnormal Renal 25 Hydroxyvitamin D3-1-Hydroxylase Activity in the XLinkedHypMouse*

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Cloning and expression of cDNA for a Na/Pi cotransport system of kidney cortex

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Expression cloning of human and rat renal cortex Na/Pi cotransport

21 January 2018

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cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone

21 January 2018

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An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

21 January 2018

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An analysis of vertebrate mRNA sequences: intimations of translational control

21 January 2018

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Evolutionary families of metallopeptidases

21 January 2018

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Astacins, serralysins, snake venom and matrix metalloproteinases exhibit identical zinc-binding environments (HEXXHXXGXXH and Met-turn) and topologies and should be grouped into a common family, the 'metzincins'

21 January 2018

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Asp650 is crucial for catalytic activity of neutral endopeptidase 24-11

21 January 2018

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Kinetic evidence that His-711 of neutral endopeptidase 24.11 is involved in stabilization of the transition state

21 January 2018

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A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.

21 January 2018

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Using bacteriophage P1 system to clone high molecular weight genomic DNA

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/6.2.165

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8 February 2018

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8 February 2018