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AHI1 is apparently required for both cerebellar and cortical development in humans. Additionally we are shipping AHI1 Antibodies (54) and AHI1 Kits (3) and many more products for this protein.
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We cloned the full cDNA sequence of Ahi-1 homologous in zebrafish.RT-PCR reveal that ZAhi-1 expressed highest in the mature gonad. In situ hybridization results of zebrafish gonad show that ZAhi-1 only expressed in the early stages' gamete cells.[ZAhi-1]
a role for Ahi1 in epithelial cell organization and ciliary formation and explain the ciliopathy phenotype of AHI1 mutations in man.
Results describe spatiotemporal expression patterns of AHI1 and orthologs throughout development, in human, mouse, and zebrafish, and suggest roles for AHI1 in neurodevelopmental processes behind most of the neuroanatomical defects in Joubert syndrome.
Homozygosity mapping and WES in the only other reported JBTS family with a homozygous C-terminal truncation (p.Trp1088Leufs*16) confirmed AHI1 as disease gene.
Two SNPs of AHI1 (rs7750586 and rs9647635) were associated with clinical improvement of negative symptoms in the allelic analysis, although in the genotypic analysis, only trends of association were found for the same SNPs.
Joubert syndrome-associated missense mutations alter the subcellular distribution and protein interactions of AHI1.
The WD40-repeat domain of AHI-1 interacts with BCR-ABL, whereas the N-terminal region interacts with JAK2; loss of these interactions statistically significantly increased the IM sensitivity of CML cells.
Downregulation of CDKN1C (show CDKN1C Proteins) is associated with poor disease outcome in patients with cutaneous T-cell lymphoma, while upregulation of AHI1 shows a weak association with aggressive disease course.
a role for AHI1 and CEP290 in multiple organs throughout development
There was a significant linear trend for increasing AHI1 gene copy number frequencies with increasing body mass index.
Data suggest that that the change in AHI1 expression during chronic myeloid leukemia (show BCL11A Proteins) (CML (show BCR Proteins)) therapy might be under the control of mechanisms independent from BCR (show BCR Proteins)-ABL1 (show ABL1 Proteins).
Ahi1 mediates feeding behavior by interacting with 5-HT(2C (show HTR2C Proteins))R to modulate the serotonin signaling pathway.
Over-expression of exogenous Ahi-1 can not only inhibit the growth and colony formation potential of Jurkat cells, but also induce phosphorylation of c-myb (show MYB Proteins).
Our findings suggest that Ahi1 KO mice can be used for studying the mechanisms of depression and screening therapeutic targets.
Jouberin is expressed in mESCs and localized at the primary cilium. Jouberin controls mouse embryonic stem cells early neural differentiation.
Results suggest that under-expression of the Ahi1 gene during neurodevelopment brings about relative resilience to various stressors during adulthood
The results of this study suggest that Cend1 (show CEND1 Proteins) is involved in Ahi1 mutation-induced neuropathology.
Hypothalamic Ahi1 functions as a sensor of insulin (show INS Proteins) signaling.
Results indicate that the Hap1 (show HAP1 Proteins)-Ahi1 complex in the brainstem works as a sensor for insulin (show INS Proteins) signals in feeding control.
Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB (show NTRK2 Proteins) signaling with a depressive phenotype.
The retinal degeneration observed in Ahi1(-/-) mice recapitulates aspects of the retinal phenotype observed in patients with Joubert syndrome and suggests the importance of Ahi1 in photoreceptor function.
AHI1 may explain a proportion of the variability in retinal phenotypes observed in nephronophthisis.
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.
Abelson helper integration site 1
, abelson helper integration site 1 protein homolog
, contatins SH3 and WD40 domains
, abelson helper integration site 1 protein