schliessen

Filtern

 

Bibliotheken

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance pro... Full description

Journal Title: The American Journal of Human Genetics 2003, Vol.72(2), pp.408-418
Main Author: Paznekas, William A
Other Authors: Boyadjiev, Simeon A , Shapiro, Robert E , Daniels, Otto , Wollnik, Bernd , Keegan, Catherine E , Innis, Jeffrey W , Dinulos, Mary Beth , Christian, Cathy , Hannibal, Mark C , Jabs, Ethylin Wang
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1086/346090
Zum Text:
SendSend as email Add to Book BagAdd to Book Bag
Staff View
recordid: elsevier_sdoi_10_1086_346090
title: Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
format: Article
creator:
  • Paznekas, William A
  • Boyadjiev, Simeon A
  • Shapiro, Robert E
  • Daniels, Otto
  • Wollnik, Bernd
  • Keegan, Catherine E
  • Innis, Jeffrey W
  • Dinulos, Mary Beth
  • Christian, Cathy
  • Hannibal, Mark C
  • Jabs, Ethylin Wang
subjects:
  • Biology
ispartof: The American Journal of Human Genetics, 2003, Vol.72(2), pp.408-418
description: Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human connexin 43 gene, or is located at human chromosome 6q22-q23 within the candidate region for the oculodentodigital dysplasia locus. This autosomal dominant syndrome presents with craniofacial (ocular, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration. Syndactyly type III and conductive deafness can occur in some cases, and cardiac abnormalities are observed in rare instances. We found mutations in the gene in all 17 families with oculodentodigital dysplasia that we screened. Sixteen different missense mutations and one codon duplication were detected. These mutations may cause misassembly...
language: eng
source:
identifier: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1086/346090
fulltext: fulltext
issn:
  • 0002-9297
  • 00029297
  • 1537-6605
  • 15376605
url: Link


@attributes
ID245553493
RANK0.07
NO1
SEARCH_ENGINEprimo_central_multiple_fe
SEARCH_ENGINE_TYPEPrimo Central Search Engine
LOCALfalse
PrimoNMBib
record
control
sourcerecordiddoi_10_1086_346090
sourceidelsevier_s
recordidTN_elsevier_sdoi_10_1086_346090
sourcesystemPC
dbid
0--K
1457
24G.
36I.
47-5
5AAEDT
6AAFTH
7AAKRW
8AAVLU
9AAXJY
10ABVKL
11AFTJW
12AGHFR
13AITUG
14ALKID
15FDB
16FGOYB
17IXB
18JIG
19R2-
20RPZ
21SES
22SSZ
pqid72978099
galeid97909355
display
typearticle
titleConnexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
creatorPaznekas, William A ; Boyadjiev, Simeon A ; Shapiro, Robert E ; Daniels, Otto ; Wollnik, Bernd ; Keegan, Catherine E ; Innis, Jeffrey W ; Dinulos, Mary Beth ; Christian, Cathy ; Hannibal, Mark C ; Jabs, Ethylin Wang
ispartofThe American Journal of Human Genetics, 2003, Vol.72(2), pp.408-418
identifier
subjectBiology
descriptionGap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human connexin 43 gene, or is located at human chromosome 6q22-q23 within the candidate region for the oculodentodigital dysplasia locus. This autosomal dominant syndrome presents with craniofacial (ocular, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration. Syndactyly type III and conductive deafness can occur in some cases, and cardiac abnormalities are observed in rare instances. We found mutations in the gene in all 17 families with oculodentodigital dysplasia that we screened. Sixteen different missense mutations and one codon duplication were detected. These mutations may cause misassembly...
languageeng
oafree_for_read
source
version7
lds50peer_reviewed
links
openurl$$Topenurl_article
openurlfulltext$$Topenurlfull_article
linktorsrc$$Uhttps://www.sciencedirect.com/science/article/pii/S0002929707605497$$EView_full_text_in_ScienceDirect
search
creatorcontrib
0Paznekas, William A
1Boyadjiev, Simeon A
2Shapiro, Robert E
3Daniels, Otto
4Wollnik, Bernd
5Keegan, Catherine E
6Innis, Jeffrey W
7Dinulos, Mary Beth
8Christian, Cathy
9Hannibal, Mark C
10Jabs, Ethylin Wang
titleConnexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
description

Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human connexin 43 gene, or

is located at human chromosome 6q22-q23 within the candidate region for the oculodentodigital dysplasia locus. This autosomal dominant syndrome presents with craniofacial (ocular, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration. Syndactyly type III and conductive deafness can occur in some cases, and cardiac abnormalities are observed in rare instances. We found mutations in the

gene in all 17 families with oculodentodigital dysplasia that we screened. Sixteen different missense mutations and one codon duplication were detected. These mutations may cause misassembly...

subjectBiology
general
0English
1Elsevier Inc
210.1086/346090
3ScienceDirect (Elsevier)
4ScienceDirect Journals (Elsevier)
sourceidelsevier_s
recordidelsevier_sdoi_10_1086_346090
issn
00002-9297
100029297
21537-6605
315376605
rsrctypearticle
creationdate2003
addtitleThe American Journal of Human Genetics
searchscope
0elsevier_full
1elsevier4
2elsevier2
scope
0elsevier_full
1elsevier4
2elsevier2
lsr45$$EView_full_text_in_ScienceDirect
tmp01ScienceDirect Journals (Elsevier)
tmp02
0--K
1457
24G.
36I.
47-5
5AAEDT
6AAFTH
7AAKRW
8AAVLU
9AAXJY
10ABVKL
11AFTJW
12AGHFR
13AITUG
14ALKID
15FDB
16FGOYB
17IXB
18JIG
19R2-
20RPZ
21SES
22SSZ
startdate20030101
enddate20031231
lsr40The American Journal of Human Genetics, 2003, Vol.72 (2), pp.408-418
doi10.1086/346090
citationpf 408 pt 418 vol 72 issue 2
lsr30VSR-Enriched:[pqid, galeid]
sort
titleConnexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
authorPaznekas, William A ; Boyadjiev, Simeon A ; Shapiro, Robert E ; Daniels, Otto ; Wollnik, Bernd ; Keegan, Catherine E ; Innis, Jeffrey W ; Dinulos, Mary Beth ; Christian, Cathy ; Hannibal, Mark C ; Jabs, Ethylin Wang
creationdate20030000
lso0120030000
facets
frbrgroupid8401453633692675210
frbrtype5
newrecords20190904
languageeng
topicBiology
collectionScienceDirect (Elsevier)
prefilterarticles
rsrctypearticles
creatorcontrib
0Paznekas, William A
1Boyadjiev, Simeon A
2Shapiro, Robert E
3Daniels, Otto
4Wollnik, Bernd
5Keegan, Catherine E
6Innis, Jeffrey W
7Dinulos, Mary Beth
8Christian, Cathy
9Hannibal, Mark C
10Jabs, Ethylin Wang
jtitleAmerican Journal of Human Genetics
creationdate2003
toplevelpeer_reviewed
delivery
delcategoryRemote Search Resource
fulltextfulltext
addata
aulast
0Paznekas
1Boyadjiev
2Shapiro
3Daniels
4Wollnik
5Keegan
6Innis
7Dinulos
8Christian
9Hannibal
10Jabs
aufirst
0William A
1Simeon A
2Robert E
3Otto
4Bernd
5Catherine E
6Jeffrey W
7Mary Beth
8Cathy
9Mark C
10Ethylin Wang
auinitW
auinit1W
au
0Paznekas, William A
1Boyadjiev, Simeon A
2Shapiro, Robert E
3Daniels, Otto
4Wollnik, Bernd
5Keegan, Catherine E
6Innis, Jeffrey W
7Dinulos, Mary Beth
8Christian, Cathy
9Hannibal, Mark C
10Jabs, Ethylin Wang
atitleConnexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
jtitleThe American Journal of Human Genetics
date2003
risdate2003
volume72
issue2
spage408
epage418
pages408-418
issn0002-9297
eissn1537-6605
formatjournal
genrearticle
ristypeJOUR
abstract

Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human connexin 43 gene, or

is located at human chromosome 6q22-q23 within the candidate region for the oculodentodigital dysplasia locus. This autosomal dominant syndrome presents with craniofacial (ocular, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration. Syndactyly type III and conductive deafness can occur in some cases, and cardiac abnormalities are observed in rare instances. We found mutations in the

gene in all 17 families with oculodentodigital dysplasia that we screened. Sixteen different missense mutations and one codon duplication were detected. These mutations may cause misassembly...

pubElsevier Inc
doi10.1086/346090
lad01The American Journal of Human Genetics
oafree_for_read