(Q48886178)

16 February 2018

title

Connexin46 mutations linked to congenital cataract show loss of gap junction channel function. (English)

1 reference

16 February 2018

author name string

J D Pal

1

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16 February 2018

X Liu

2

1 reference

16 February 2018

D Mackay

3

1 reference

16 February 2018

A Shiels

4

1 reference

16 February 2018

V M Berthoud

5

1 reference

16 February 2018

E C Beyer

6

1 reference

16 February 2018

L Ebihara

7

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16 February 2018

publication date

1 September 2000

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16 February 2018

American Journal of Physiology - Cell Physiology

published in

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16 February 2018

volume

279

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16 February 2018

page(s)

C596-602

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16 February 2018

issue

3

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16 February 2018

Connexin mutations in X-linked Charcot-Marie-Tooth disease

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1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Mutational analysis of gap junction formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Hemi-gap-junction channels in solitary horizontal cells of the catfish retina.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Xenopus connexin38 forms hemi-gap-junctional channels in the nonjunctional plasma membrane of Xenopus oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Distinct behavior of connexin56 and connexin46 gap junctional channels can be predicted from the behavior of their hemi-gap-junctional channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Cloning and expression of a Xenopus embryonic gap junction protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Properties of a nonjunctional current expressed from a rat connexin46 cDNA in Xenopus oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

PH regulation of connexin43: molecular analysis of the gating particle

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Connexins, connexons, and intercellular communication

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Trafficking, assembly, and function of a connexin43-green fluorescent protein chimera in live mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Properties and regulation of gap junctional hemichannels in the plasma membranes of cultured cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Connexin46 mutations in autosomal dominant congenital cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Physiological properties of the normal lens

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Biochemical analysis of connexin43 intracellular transport, phosphorylation, and assembly into gap junctional plaques

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Gating of cx46 gap junction hemichannels by calcium and voltage

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Mutations in the founder of the MIP gene family underlie cataract development in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Equilibrium properties of a voltage-dependent junctional conductance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Voltage gating and permeation in a gap junction hemichannel

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

The role of MIP in lens fiber cell membrane transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

Evidence for a prostate cancer susceptibility locus on the X chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPCELL.2000.279.3.C596

10.1152/AJPCELL.2000.279.3.C596

21 January 2018

Identifiers

DOI

1 reference

16 February 2018

PubMed ID

10942709

1 reference

16 February 2018