Ask about this productRelated genes to: Ahi1 Blocking Peptide
- Gene:
- AHI1 NIH gene
- Name:
- Abelson helper integration site 1
- Previous symbol:
- -
- Synonyms:
- FLJ20069, ORF1, JBTS3
- Chromosome:
- 6q23.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-08-22
- Date modifiied:
- 2016-10-05
Related products to: Ahi1 Blocking Peptide
Related articles to: Ahi1 Blocking Peptide
- Biallelic variants in the gene are linked to Mucopolysaccharidosis type I (MPS I), a rare type I lysosomal storage disorder characterized by systemic manifestations of coarse facies, macrocephaly, hepatosplenomegaly, dysostosis multiplex, hearing loss, cardiac issues, airway involvement, hydrocephalus, and intellectual disability. Based on the age at which symptoms appear and the degree of intellectual impairment, MPS I can be categorized into Hurler, Hurler-Scheie, and Scheie syndromes. - Source: PubMed
Publication date: 2026/05/20
Chattannavar GouraSadhu PravalikaJalali SubhadraKekunnaya Ramesh - A zebrafish morpholino knockdown model targeting ahi1 enables efficient phenotypic assessment of ciliopathy-related defects and functional evaluation of variants of uncertain significance. This assay clarifies the impact of VUSs, supporting zebrafish morphants as a reliable platform for validating ciliopathy-associated genetic variants. - Source: PubMed
Aresi CarlaTonelli FrancescaMazzotta ConcettaSerpieri ValentinaMasiero CeciliaTorriani CamillaVillani SimonaValente Enza MariaForlino Antonella - Joubert syndrome (JS) is a rare neurodevelopmental ciliopathy defined by the molar tooth sign (MTS) on brain magnetic resonance imaging accompanied by hypotonia, oculomotor apraxia (OMA), developmental delay, and multisystem involvement. With over 40 genes implicated, JS displays genetic and phenotypic heterogeneity. This study aimed to define the clinical and molecular spectrum of JS in a Turkish cohort. - Source: PubMed
Publication date: 2025/12/22
Türk SalihGüneş NilayGök AnılŞengenç EsmaDemirbilek VeysiKasap BüşraArslan SerdarUludağ Alkaya DilekGür KutlayIşlak CivanSaltık SemaKara BülentYalçınkaya CengizTüysüz Beyhan - Previous studies have integrated genome-wide association studies with expression quantitative trait locus (eQTL) data from bulk tissues to identify stroke susceptibility genes. However, eQTL data exhibit high cell-type specificity, and genetic variants may have distinct effects across stroke subtypes. - Source: PubMed
Publication date: 2026/04/20
He YijieZhang TaoZhu PingGao ShanWu ShiyangLiu FengzhenChen YanYao YingshuiLiu Guiyou - Joubert Syndrome (JS) is a rare neurodevelopmental disorder characterized by cerebellar ataxia, oculomotor apraxia, and the characteristic "molar tooth sign" on brain MRI. Niemann - Pick Disease Type C (NPC) is an autosomal recessive lysosomal storage disorder associated with progressive neurological involvement, including ataxia and vertical supranuclear gaze palsy. Although these disorders have distinct genetic and pathophysiological mechanisms, they share overlapping clinical features such as ataxia, oculomotor abnormalities, and developmental delay, which may complicate the diagnostic process. We evaluated a 7-year-old Afghan girl with speech impairment and neuromotor developmental delay. Neurological and radiological assessments were conducted, followed by genetic analysis using next-generation sequencing to explore underlying mutations. Neurological examination revealed cerebellar ataxia, oculomotor apraxia, and dysmetria, consistent with JS. Brain MRI demonstrated the characteristic molar tooth sign. Genetic testing identified homozygous mutations in the NPC1 gene (c.1123A > G, p.Thr375Ala) and the AHI1 gene (c.2671C > T, p.R891). Despite the NPC1 mutation, no classical signs of NPC - such as vertical gaze palsy or clinical deterioration - were observed. Family history revealed a bedridden cousin, though no diagnostic information was available. Based on genetic findings, miglustat therapy was initiated. This case illustrates the diagnostic challenges arising from coexisting pathogenic mutations in genes associated with different neurological syndromes. Although clinical features primarily aligned with Joubert Syndrome, the possibility of subclinical or emerging Niemann-Pick Disease Type C could not be excluded. Genetic overlap emphasizes the importance of integrated clinical and molecular evaluation in rare neurogenetic disorders. - Source: PubMed
Publication date: 2026/04/14
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