LymphedemaV1, Main, Exploration, bibRecord, 005A85

GJC2 Missense Mutations Cause Human Lymphedema

Identifieur interne : 005A85 ( Main/Exploration ); précédent : 005A84; suivant : 005A86

GJC2 Missense Mutations Cause Human Lymphedema

Auteurs : Robert E. Ferrell [États-Unis] ; Catherine J. Baty [États-Unis] ; Mark A. Kimak [États-Unis] ; Jenny M. Karlsson [États-Unis] ; Elizabeth C. Lawrence [États-Unis] ; Marlise Franke-Snyder [États-Unis] ; Stephen D. Meriney [États-Unis] ; Eleanor Feingold [États-Unis] ; David N. Finegold [États-Unis]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2010.

RBID : PMC:3032064

Descripteurs français

KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Alignement de séquences, Connexines (génétique), Données de séquences moléculaires, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Lymphoedème (génétique), Modèles moléculaires, Mutation faux-sens, Mâle, Pedigree, Sujet âgé, Sujet âgé de 80 ans ou plus, Séquence d'acides aminés, Séquence nucléotidique.
MESH :
- génétique : Connexines, Lymphoedème.
- Adolescent, Adulte, Adulte d'âge moyen, Alignement de séquences, Données de séquences moléculaires, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Modèles moléculaires, Mutation faux-sens, Mâle, Pedigree, Sujet âgé, Sujet âgé de 80 ans ou plus, Séquence d'acides aminés, Séquence nucléotidique.

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Connexins (genetics), Female, Humans, Lymphedema (genetics), Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Missense, Pedigree, Sequence Alignment.
MESH :
- chemical , genetics : Connexins.
- genetics : Lymphedema.
- Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Missense, Pedigree, Sequence Alignment.

Abstract

Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema. Survey microarray studies comparing lymphatic and blood endothelial cells identified expression of several connexins in lymphatic endothelial cells. Additionally, gap junctions are implicated in maintaining lymphatic flow. By sequencing GJA1, GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six probands with unique missense mutations in GJC2 (encoding connexin [Cx] 47). Two larger families cosegregate lymphedema and GJC2 mutation (LOD score = 6.5). We hypothesize that missense mutations in GJC2 alter gap junction function and disrupt lymphatic flow. Until now, GJC2 mutations were only thought to cause dysmyelination, with primary expression of Cx47 limited to the central nervous system. The identification of GJC2 mutations as a cause of primary lymphedema raises the possibility of novel gap-junction-modifying agents as potential therapy for some forms of lymphedema.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3032064

DOI: 10.1016/j.ajhg.2010.04.010
PubMed: 20537300
PubMed Central: 3032064

Affiliations:

Le document en format XML

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 Missense Mutations Cause Human Lymphedema</title>
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 Missense Mutations Cause Human Lymphedema</title>
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<term>Adult</term>
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<term>Sequence Alignment</term>
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<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème (génétique)</term>
<term>Modèles moléculaires</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Sujet âgé</term>
<term>Sujet âgé de 80 ans ou plus</term>
<term>Séquence d'acides aminés</term>
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<term>Adult</term>
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<term>Aged, 80 and over</term>
<term>Amino Acid Sequence</term>
<term>Base Sequence</term>
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<term>Female</term>
<term>Humans</term>
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<term>Adulte</term>
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<term>Alignement de séquences</term>
<term>Données de séquences moléculaires</term>
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<term>Mâle</term>
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<front><div type="abstract" xml:lang="en"><p>Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema. Survey microarray studies comparing lymphatic and blood endothelial cells identified expression of several connexins in lymphatic endothelial cells. Additionally, gap junctions are implicated in maintaining lymphatic flow. By sequencing <italic>GJA1</italic>
, <italic>GJA4</italic>
, and <italic>GJC2</italic>
 in a group of families with dominantly inherited lymphedema, we identified six probands with unique missense mutations in <italic>GJC2</italic>
 (encoding connexin [Cx] 47). Two larger families cosegregate lymphedema and <italic>GJC2</italic>
 mutation (LOD score = 6.5). We hypothesize that missense mutations in <italic>GJC2</italic>
 alter gap junction function and disrupt lymphatic flow. Until now, <italic>GJC2</italic>
 mutations were only thought to cause dysmyelination, with primary expression of Cx47 limited to the central nervous system. The identification of <italic>GJC2</italic>
 mutations as a cause of primary lymphedema raises the possibility of novel gap-junction-modifying agents as potential therapy for some forms of lymphedema.</p>
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</record>

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EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005A85 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 005A85 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:3032064
   |texte=   GJC2 Missense Mutations Cause Human Lymphedema
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:20537300" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

GJC2 Missense Mutations Cause Human Lymphedema

GJC2 Missense Mutations Cause Human Lymphedema

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.