(Q37429017)

20 August 2017

1 reference

title

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype (English)

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20 August 2017

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8

Lionel Van Maldergem

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Ethylin Wang Jabs

object named as

Ethylin Wang Jabs

11

0 references

Sascha Vermeer

3

object named as

Sascha Vermeer

1 reference

20 August 2017

5

Martin Delatycki

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20 August 2017

7

Pasi A Koivisto

1 reference

20 August 2017

10

Joann N Bodurtha

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20 August 2017

William A Paznekas

1

1 reference

20 August 2017

Barbara Karczeski

2

1 reference

20 August 2017

R Brian Lowry

4

1 reference

20 August 2017

Faivre Laurence

6

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20 August 2017

Simeon A Boyadjiev

9

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20 August 2017

language of work or name

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1 May 2009

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20 August 2017

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20 August 2017

volume

30

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20 August 2017

issue

5

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20 August 2017

page(s)

724-733

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Oculodentodigital dysplasia. Four new reports and a literature review

20 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

Plasma membrane channels formed by connexins: their regulation and functions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

Selectivity of connexin-specific gap junctions does not correlate with channel conductance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

Specific motifs in the external loops of connexin proteins can determine gap junction formation between chick heart myocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

Heart defects in connexin43-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

Mutation of a conserved threonine in the third transmembrane helix of alpha- and beta-connexins creates a dominant-negative closed gap junction channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Connexin43: a protein from rat heart homologous to a gap junction protein from liver

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Incidence of cardiac malformations at birth and later, and neonatal mortality

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Hallermann-Streiff syndrome: A review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Causes and prevalence of visual impairment among adults in the United States

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Prevalence of cataract and pseudophakia/aphakia among adults in the United States

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Functional consequences of heterogeneous gap junction channel formation and its influence in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

pH-dependent intramolecular binding and structure involving Cx43 cytoplasmic domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20958

1 reference

7 January 2021

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Rates for specific birth defects among offspring of Japanese mothers, Hawaii, 1986-2002

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Prevalence of open-angle glaucoma among adults in the United States

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Functional Characterization of aGJA1Frameshift Mutation Causing Oculodentodigital Dysplasia and Palmoplantar Keratoderma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Oculodentodigital dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Slow ventricular conduction in mice heterozygous for a connexin43 null mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Connexin channel permeability to cytoplasmic molecules

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Gap junctional complexes: from partners to functions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Gap junction- and hemichannel-independent actions of connexins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Functional properties of mouse connexin30.2 expressed in the conduction system of the heart

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Connexin levels regulate keratinocyte differentiation in the epidermis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Endothelial cell-specific knockout of connexin 43 causes hypotension and bradycardia in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Neurological manifestations of the oculodentodigital dysplasia syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

C-terminal truncation of connexin43 changes number, size, and localization of cardiac gap junction plaques

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Gap junctions - from cell to molecule

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Mutated connexin43 proteins inhibit rat glioma cell growth suppression mediated by wild-type connexin43 in a dominant-negative manner.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Structure of the amino terminus of a gap junction protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Cardiac malformation in neonatal mice lacking connexin43.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Loss of electrical communication, but not plaque formation, after mutations in the cytoplasmic loop of connexin43.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Remodelling of gap junctions and connexin expression in diseased myocardium.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Key connexin 43 phosphorylation events regulate the gap junction life cycle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Connexins: functions without junctions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

The different appearance of the oculodentodigital dysplasia syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Glaucoma in oculo-dento-osseous dysplasia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Connexin43 orthologues in vertebrates: phylogeny from fish to man.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Connexin37 forms high conductance gap junction channels with subconductance state activity and selective dye and ionic permeabilities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Autosomal dominant simple microphthalmos

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Connexins and cell signaling in development and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Clinical and genetic variability of oculodentodigital dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Structural and functional diversity of connexin genes in the mouse and human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

The 43-kD polypeptide of heart gap junctions: immunolocalization, topology, and functional domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Membrane topology and quaternary structure of cardiac gap junction ion channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Structure of cardiac gap junction intercellular channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Identification of the calmodulin binding domain of connexin 43

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

A study of heredity as a risk factor in strabismus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20958

7 January 2021

Identifiers

DOI

10.1002/HUMU.20958

1 reference

20 August 2017

1 reference