Heterozygous loss of function of

ADP-Ribosylation Factor 6 ADP-Ribosylation Factors / genetics Aged Animals Autistic Disorder / genetics Brain / metabolism Disease Models, Animal Female Guanine Nucleotide Exchange Factors / genetics Humans Intellectual Disability / genetics Loss of Heterozygosity Male Mice Mice, Inbred C57BL Mice, Knockout Middle Aged Mutation Nerve Tissue Proteins / genetics Pedigree Seizures / genetics

Journal

Life science alliance
ISSN: 2575-1077
Titre abrégé: Life Sci Alliance
Pays: United States
ID NLM: 101728869

Informations de publication

Date de publication:
08 2019
Historique:
received: 20 03 2019
revised: 25 07 2019
accepted: 15 08 2019
entrez: 24 8 2019
pubmed: 24 8 2019
medline: 24 6 2020
Statut: epublish

Résumé

Clinical presentations of mutations in the

Identifiants

DOI: 10.26508/lsa.201900386 PMID: 31439632 PMC: PMC6706959
pubmed: 31439632
pii: 2/4/e201900386
doi: 10.26508/lsa.201900386
pmc: PMC6706959
pii:
doi:

Substances chimiques

ADP-Ribosylation Factor 6 0
Guanine Nucleotide Exchange Factors 0
IQSEC2 protein, human 0
IQSEC2 protein, mouse 0
Nerve Tissue Proteins 0
ADP-Ribosylation Factors EC 3.6.5.2
ARF6 protein, human EC 3.6.5.2
Arf6 protein, mouse EC 3.6.5.2

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2019 Jackson et al.

Références

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Auteurs

Matilda R Jackson (MR)

Intellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia.
Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.

Karagh E Loring (KE)

Intellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia.
Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.

Claire C Homan (CC)

Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.

Monica Hn Thai (MH)

Intellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia.

Laura Määttänen (L)

Department of Child Neurology, Turku University Hospital, Turku, Finland.

Maria Arvio (M)

Department of Child Neurology, Turku University Hospital, Turku, Finland.
Joint Authority for Päijät-Häme Social and Health Care, Lahti, Finland.
PEDEGO, Oulu University Hospital, Oulu, Finland.
ORCID: 0000-0002-2571-7118

Irma Jarvela (I)

Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

Marie Shaw (M)

Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.

Alison Gardner (A)

Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.

Jozef Gecz (J)

Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.
South Australian Health and Medical Research Institute, Adelaide, Australia.
ORCID: 0000-0002-7884-6861

Cheryl Shoubridge (C)

Intellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia Cheryl.shoubridge@adelaide.edu.au.
Department of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.
ORCID: 0000-0002-0157-3084

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Classifications MeSH

Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines G › Protéines G monomériques › Facteurs d'ADP-ribosylation › Facteur-6 de ribosylation de l'ADP › Heterozygous loss of function of
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines G › Protéines G monomériques › Facteurs d'ADP-ribosylation › Heterozygous loss of function of
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Sujet âgé › Heterozygous loss of function of
Recherchemedicale.com › Eucaryotes › Animaux › Heterozygous loss of function of
Recherchemedicale.com › Troubles mentaux › Troubles du développement neurologique › Troubles généralisés du développement de l'enfant › Trouble du spectre autistique › Trouble autistique › Heterozygous loss of function of
Recherchemedicale.com › Système nerveux › Système nerveux central › Encéphale › Heterozygous loss of function of
Recherchemedicale.com › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Heterozygous loss of function of
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Régulateurs des protéines G › Facteurs d'échange de nucléotides guanyliques › Heterozygous loss of function of
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Heterozygous loss of function of
Recherchemedicale.com › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › Heterozygous loss of function of
Recherchemedicale.com › Phénomènes génétiques › Variation génétique › Mutation › Déséquilibre allélique › Perte d'hétérozygotie › Heterozygous loss of function of
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Heterozygous loss of function of
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Lignées consanguines de souris › Souris de lignée C57BL › Heterozygous loss of function of
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › Heterozygous loss of function of
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Heterozygous loss of function of
Recherchemedicale.com › Phénomènes génétiques › Variation génétique › Mutation › Heterozygous loss of function of
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Heterozygous loss of function of
Recherchemedicale.com › Techniques d'investigation › Techniques génétiques › Pedigree › Heterozygous loss of function of
Recherchemedicale.com › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Crises épileptiques › Heterozygous loss of function of