(Q28249865)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

case report

0 references

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

main subject

transmembrane protein

0 references

author

Rebecca J. Richardson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

author name string

S Joss

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

S Tomkin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

M Ahmed

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

E Sheridan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

M J Dixon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

language of work or name

English

0 references

publication date

1 July 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

26 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

issue

7

1 reference

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26 December 2019

page(s)

e37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

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

26 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

Human diseases: clues to cracking the connexin code?

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

Nonsense-mediated mRNA decay in health and disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

Connexin mutations in hearing loss, dermatological and neurological disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

Isolation and community: a review of the role of gap-junctional communication in embryonic patterning

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

Connexin gene mutations in human genetic diseases.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

The oculo-dento-digital dysplasia syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

Oculodentodigital dysplasia. Four new reports and a literature review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

Cardiac malformation in neonatal mice lacking connexin43.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

The topogenic fate of the polytopic transmembrane proteins, synaptophysin and connexin, is determined by their membrane-spanning domains.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly

27 November 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

27 November 2018

12 December 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

Oculodentodigital dysplasia

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564566

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

27 November 2018

1 reference

PubMed

12 December 2020

Oculodentodigital Dysplasia

1 reference

PubMed

12 December 2020

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

1 reference

PubMed

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.037655

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816024%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

PubMed publication ID

16816024

2 references