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AHI1 is apparently required for both cerebellar and cortical development in humans. Zusätzlich bieten wir Ihnen AHI1 Kits (3) und AHI1 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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Human Polyclonal AHI1 Primary Antibody für ELISA, WB - ABIN250311
Jiang, Hanna, Kaouass, Girard, Jolicoeur: 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. in Journal of virology 2002
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Human Polyclonal AHI1 Primary Antibody für ELISA, WB - ABIN185303
Dixon-Salazar, Silhavy, Marsh, Louie, Scott, Gururaj, Al-Gazali, Al-Tawari, Kayserili, Sztriha, Gleeson: Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. in American journal of human genetics 2004
Show all 5 Pubmed References
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.
Results identified 74 somatic insertions in squamous cell carcinoma of the esophagus (SCC (zeige CYP11A1 Antikörper)); 12 of them appeared to be somatic, not genetically inherited, and sub-clonal in the adjacent normal esophagus, while clonal in the tumor. These results indicate that L1 retrotransposition is active in SCC (zeige CYP11A1 Antikörper) of the esophagus and that insertion events are present in histologically NE that expands clonally in the subsequent tumors.
a new AHI-1-BCR-ABL (zeige ABL1 Antikörper)-DNM2 (zeige DNM2 Antikörper) protein complex was uncovered, which regulates leukemic properties of these cells through a unique mechanism of cellular endocytosis and ROS (zeige ROS1 Antikörper)-mediated autophagy. Thus, targeting this complex may facilitate eradication of LSCs for curative therapies
introduction of equivalent stop codons in the full-length human L1 sequence leads to the expression of truncated ORF1 proteins.
Aicardi-Goutieres syndrome protein TREX1 (zeige TREX1 Antikörper) suppresses L1 and maintains genome integrity through exonuclease (zeige EXO1 Antikörper)-independent ORF1p depletion.
We observed that a cis (zeige CISH Antikörper)-eQTL (zeige EQTN Antikörper) of AHI1, rs11154801, showed significant association with AHI1 expression. Genetic evidence exhibited that rs11154801 was significantly associated with schizophrenia risk in both the discovery and the replication sample. These results suggested that AHI1 is likely a risk gene for schizophrenia, at least in European populations.
We examined a Chinese strabismus (zeige VANGL2 Antikörper) pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB (zeige NEB Antikörper)) gene. The variant in the AHI1 gene, c.A3257G (p.E1086G), and the altered amino acid had a damaging effect on the encoded protein predicted by Polyphen2.
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.
The current research describes multi-faceted effort to link early variations in Ahi1 expression with long-term consequences for functional brain networks and cognitive-emotional phenotypes.
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 (zeige CEND1 Antikörper) is involved in Ahi1 mutation-induced neuropathology.
Hypothalamic Ahi1 functions as a sensor of insulin (zeige INS Antikörper) signaling.
Results indicate that the Hap1 (zeige HAP1 Antikörper)-Ahi1 complex in the brainstem works as a sensor for insulin (zeige INS Antikörper) signals in feeding control.
Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB (zeige NTRK2 Antikörper) 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.
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