Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Jouberin

Das vom AHI1-Gen kodierte Jouberin ist für die Entwicklung des Groß- und Kleinhirns verantwortlich. Mutationen sind für das autosomal rezessive Joubert-Syndrom Typ 3 verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp RNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Joubert-Syndrom 3
AHI1

Referenzen:

1.

Najmabadi H et. al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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2.

Jiang X et. al. (2002) Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations.

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3.

Jiang X et. al. (2004) Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia.

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4.

Ferland RJ et. al. (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

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5.

Dixon-Salazar T et. al. (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

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6.

Parisi MA et. al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

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7.

Utsch B et. al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

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8.

Valente EM et. al. (2006) AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

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9.

Sheng G et. al. (2008) Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice.

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10.

Hsiao YC et. al. (2009) Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking.

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11.

Lancaster MA et. al. (2009) Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy.

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12.

Ingason A et. al. (2010) A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.

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13.

Louie CM et. al. (2010) AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

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14.

Lancaster MA et. al. (2011) Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

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15.

Tuz K et. al. (2013) The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

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16.

Elsayed SM et. al. (2015) Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

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