AHI1 Antibody

1. Two copies of the MS risk allele within AHI1 (rs11154801) is associated with increased relapses among children and adults. PMID: 29409597
2. Elevated ORF1p expression is associated with tumor progression. ROS experimentally induce ORF1p expression and promote migration in bladder cancer cells. PMID: 29496693
3. Kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with mutations in CEP290, TMEM67, and AHI1. PMID: 29146704
4. study determined that variants in the AHI1 gene can cause non-syndromic retinitis pigmentosa (RP) next to Joubert syndrome;, patients with RP and with pathogenic AHI1 variants have a late onset of disease and mild progression PMID: 28442542
5. Jbn expression correlates with the proliferation, invasive potential and invasion strategy of the tested tumor cells, and that its downregulation reduces their capability of migrating and invading the extracellular matrix PMID: 28361800
6. Results identified 74 somatic insertions in squamous cell carcinoma of the esophagus (SCC); 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 of the esophagus and that insertion events are present in histologically NE that expands clonally in the subsequent tumors. PMID: 27319353
7. a new AHI-1-BCR-ABL-DNM2 protein complex was uncovered, which regulates leukemic properties of these cells through a unique mechanism of cellular endocytosis and ROS-mediated autophagy. Thus, targeting this complex may facilitate eradication of LSCs for curative therapies PMID: 28366933
8. introduction of equivalent stop codons in the full-length human L1 sequence leads to the expression of truncated ORF1 proteins. PMID: 28431148
9. Aicardi-Goutieres syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. PMID: 28334850
10. We observed that a cis-eQTL 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. PMID: 27585752
11. We examined a Chinese strabismus 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) 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. PMID: 28391287
12. A homozygous mutation located in exon 7 was present in the three Joubert syndrome-affected Moroccan siblings. PMID: 26541515
13. 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. PMID: 25616960
14. 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. PMID: 25622261
15. Joubert syndrome-associated missense mutations alter the subcellular distribution and protein interactions of AHI1. PMID: 23532844
16. 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. PMID: 23446755
17. Downregulation of CDKN1C 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. PMID: 23171462
18. a role for AHI1 and CEP290 in multiple organs throughout development PMID: 23028714
19. There was a significant linear trend for increasing AHI1 gene copy number frequencies with increasing body mass index. PMID: 22285701
20. Data suggest that that the change in AHI1 expression during chronic myeloid leukemia (CML) therapy might be under the control of mechanisms independent from BCR-ABL1. PMID: 22183070
21. Ahi1 mediates feeding behavior by interacting with 5-HT(2C)R to modulate the serotonin signaling pathway. PMID: 22123816
22. 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. PMID: 19379585
23. Our data demonstrate a key role for CEP290 in Leber Congenital Amaurosis (LCA) and identify 2 AHI1 mutations as neurological modifiers of the CEP290 related disease. PMID: 20683928
24. the contribution of AHI1 to the susceptibility of schizophrenia PMID: 20805890
25. This study provides further evidence for involvement of AHI1 in susceptibility to schizophrenia. PMID: 20452750
26. role of AHI1 as a susceptibility gene for schizophrenia; confirm it has been subjected to positive selection PMID: 20371615
27. These findings indicate a novel role for AHI1 in skeletal muscle and identify additional genetic links with metabolic syndrome phenotypes suggesting an involvement of AHI1 in the maintenance of glucose homeostasis and type 2 diabetes mellitus progression PMID: 20045148
28. in both mice and humans, Ahi-1/AHI-1 expression is highest in the most primitive hematopoietic cells with specific patterns of down-regulation in different lineages. Cells from CML patients show elevated AHI-1 transcripts in all disease phases PMID: 14751929
29. Here we identified a locus associated with Joubert syndrome, JBTS3, on chromosome 6q23.2-q23.3 and found three deleterious mutations in AHI1, the first gene to be associated with Joubert syndrome PMID: 15322546
30. AHI1 is required for both cerebellar and cortical development in humans. Mutations associated with Joubert syndrome. PMID: 15467982
31. Joubert syndrome patients with AHI1 mutations are at risk of developing both retinal dystrophy and progressive kidney disease. PMID: 16155189
32. AHI1 mutations are a frequent cause of disease in patients with specific forms of Joubert syndrome-related disorders. PMID: 16453322
33. Both, AHI1 and C6orf217 appear to be highly relevant candidate genes for schizophrenia. PMID: 16773125
34. Epistatic effects that are provided by heterozygous NPHP6 and AHI1 mutations and variants may contribute to the appearance of extrarenal symptoms in patients with NPHP1 mutations. PMID: 17409309
35. a case-control study showing that AHI1 contributes to schizophrenia PMID: 17473831
36. AHI1 mutations are an important cause of JBS in Dutch patients, and should always be looked for in patients suspected of JBS, especially when retinal dystrophy is present. PMID: 18054307
37. Putative association between AHI1 polymorphisms and type 2 diabetes or type 2 diabetes-related metabolic traits in Danish individuals have been disproved. PMID: 18227995
38. Jouberin interacts with nephrocystin-1 in HEK293 cells PMID: 18633336
39. A role is suggested for AHI1 in common disorders that affect human cognition and behavior, such as Joubert syndrome with autism spectrum disorder. PMID: 18782849
40. 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. PMID: 18785627
41. AHI-1 interacts with BCR-ABL and modulates BCR-ABL transforming activity and imatinib response of Chronic myeloid leukemia stem/progenitor cells. PMID: 18936234
42. Data provide an important basis for further investigations on the transcriptional regulation of the AHI1 gene. PMID: 19191019
43. The SH3 domain of human AHI1 was cloned and expressed in Escherichia coli. The protein was purified by affinity and size-exclusion chromatography and was crystallized. PMID: 19342780

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HGNC: 21575

OMIM: 608629

KEGG: hsa:54806

STRING: 9606.ENSP00000265602

UniGene: Hs.386684