Adolescent Adult Female Humans Carrier Proteins / genetics Computational Biology / methods Consanguinity Exome Sequencing Genes, Recessive Homozygote Intellectual Disability / genetics Intercellular Signaling Peptides and Proteins Mutation Pedigree Phenotype Retinitis Pigmentosa / genetics
Arab society in Israel SCAPER intellectual disability retinitis pigmentosa

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
16 Jun 2024
Historique:
received: 22 05 2024
revised: 11 06 2024
accepted: 12 06 2024
medline: 27 6 2024
pubmed: 27 6 2024
entrez: 27 6 2024
Statut: epublish

Résumé

Mutations in the gene

Identifiants

DOI: 10.3390/genes15060791 PMID: 38927727
pubmed: 38927727
pii: genes15060791
doi: 10.3390/genes15060791
pii:
doi:

Substances chimiques

Carrier Proteins 0
Intercellular Signaling Peptides and Proteins 0
TRAPPC9 protein, human 0

Types de publication

Journal Article Case Reports

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : German Research Foundation (Reference number SCHO 754/5-1 and -2 (DFG)
ID : SCHO 754/5-1 and -2

Auteurs

Rajech Sharkia (R)

Unit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qara 3007500, Israel.
Unit of Natural Sciences, Beit-Berl Academic College, Beit-Berl 4490500, Israel.
ORCID: 0000-0002-0483-3443

Abdelnaser Zalan (A)

Unit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qara 3007500, Israel.
Baqa College, Al-Qasmi Street, 64, Baqa Al-Gharbia 3010000, Israel.
ORCID: 0000-0003-4776-0675

Amit Kessel (A)

Department of Biochemistry and Molecular Biology, Faculty of Life Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.
ORCID: 0000-0003-0227-0226

Wasif Al-Shareef (W)

Unit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qara 3007500, Israel.

Hazar Zahalka (H)

Child Development and Pediatric Neurology Service, Meuhedet-Northern Region, Hadera 38100, Israel.

Holger Hengel (H)

Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72074 Tübingen, Germany.
German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.

Ludger Schöls (L)

Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72074 Tübingen, Germany.
German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.

Abdussalam Azem (A)

Department of Biochemistry and Molecular Biology, Faculty of Life Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.

Muhammad Mahajnah (M)

The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
Child Neurology and Development Center, Hillel Yaffe Medical Center, Hadera 38100, Israel.
ORCID: 0000-0001-7818-8929

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent ›
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte ›
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains ›
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de transport ›
questionsmedicales.fr › Sciences de l'information › Informatique › Biologie informatique ›
questionsmedicales.fr › Phénomènes génétiques › Consanguinité ›
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome ›
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes récessifs ›
questionsmedicales.fr › Phénomènes génétiques › Génotype › Homozygote ›
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle ›
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire ›
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation ›
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree ›
questionsmedicales.fr › Phénomènes génétiques › Phénotype ›
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies héréditaires de l'oeil › Rétinite pigmentaire ›