| Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients. | Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients.
Sakrajda K, Bilska K, Czerski PM, Narożna B, Dmitrzak-Węglarz M, Heilmann-Heimbach S, Brockschmidt FF, Herms S, Nöthen MM, Cichon S, Więckowska B, Rybakowski JK, Pawlak J, Szczepankiewicz A., Free PMC Article | 03/13/2024 |
| Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum. | Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A, Babaei M, Saberi M, Golchin N, Khalil Nejad Sani Banaei A, Eshaghkhani Y, Golchehre Z, Keramatipour M. | 01/22/2022 |
| The proband of family 1 with Joubert syndrome was found to harbor homozygous c.2072delT (p.F691S*fs19) frameshift variant of the AHI1 gene, which may cause premature termination of translation of the Abelson helper integration site 1 after the 691st amino acid | [Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome].
Bai Z, Hu S, Liu N, Wu Q, Kong X. | 06/27/2020 |
| An early event of AHI1 reduction in the body of AD patients was observed. Serum AHI1 may be valuable for early diagnosis of Alzheimer disease | Reduction of AHI1 in the serum of Taiwanese with probable Alzheimer's disease.
Sheu JJ, Yang LY, Sanotra MR, Wang ST, Lu HT, Kam RSY, Hsu IU, Kao SH, Lee CK, Shieh JC, Lin YF. | 02/22/2020 |
| Two copies of the MS risk allele within AHI1 (rs11154801) is associated with increased relapses among children and adults. | The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults.
Graves JS, Barcellos LF, Simpson S, Belman A, Lin R, Taylor BV, Ponsonby AL, Dwyer T, Krupp L, Waubant E, van der Mei IAF., Free PMC Article | 09/1/2018 |
| Elevated ORF1p expression is associated with tumor progression. ROS experimentally induce ORF1p expression and promote migration in bladder cancer cells. | LINE-1 ORF1 Protein Is Up-regulated by Reactive Oxygen Species and Associated with Bladder Urothelial Carcinoma Progression.
Whongsiri P, Pimratana C, Wijitsettakul U, Jindatip D, Sanpavat A, Schulz WA, Hoffmann MJ, Goering W, Boonla C., Free PMC Article | 08/25/2018 |
| Kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with mutations in CEP290, TMEM67, and AHI1. | Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M., Free PMC Article | 07/28/2018 |
| 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 | Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
Nguyen TT, Hull S, Roepman R, van den Born LI, Oud MM, de Vrieze E, Hetterschijt L, Letteboer SJF, van Beersum SEC, Blokland EA, Yntema HG, Cremers FPM, van der Zwaag PA, Arno G, van Wijk E, Webster AR, Haer-Wigman L., Free PMC Article | 05/5/2018 |
| 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 | The product of the human AHI-1 (Abelson helper integration site) gene: experimental in vitro data point to its involvement in tumor cell invasion.
Bozzuto G, Molinari A. | 01/6/2018 |
| 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. | Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma.
Doucet-O'Hare TT, Sharma R, Rodić N, Anders RA, Burns KH, Kazazian HH Jr., Free PMC Article | 12/16/2017 |
| 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 | A novel AHI-1-BCR-ABL-DNM2 complex regulates leukemic properties of primitive CML cells through enhanced cellular endocytosis and ROS-mediated autophagy.
Liu X, Rothe K, Yen R, Fruhstorfer C, Maetzig T, Chen M, Forrest DL, Humphries RK, Jiang X., Free PMC Article | 12/9/2017 |
| introduction of equivalent stop codons in the full-length human L1 sequence leads to the expression of truncated ORF1 proteins. | Truncated ORF1 proteins can suppress LINE-1 retrotransposition in trans.
Sokolowski M, Chynces M, deHaro D, Christian CM, Belancio VP., Free PMC Article | 09/23/2017 |
| Aicardi-Goutieres syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. | Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.
Li P, Du J, Goodier JL, Hou J, Kang J, Kazazian HH Jr, Zhao K, Yu XF., Free PMC Article | 09/9/2017 |
| 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. | A cis-eQTL in AHI1 confers risk to schizophrenia in European populations.
Ren Z, Qiu A, Zhang A, Huang L, Rao S. | 08/12/2017 |
| 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. | Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing.
Min X, Fan H, Zhao G, Liu G., Free PMC Article | 07/1/2017 |
| A homozygous mutation located in exon 7 was present in the three Joubert syndrome-affected Moroccan siblings. | A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
Chafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, Sefiani A, Baala L., Free PMC Article | 07/2/2016 |
| 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. | Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ., Free PMC Article | 12/26/2015 |
| 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. | The influence of AHI1 variants on the diagnosis and treatment outcome in schizophrenia.
Porcelli S, Pae CU, Han C, Lee SJ, Patkar AA, Masand PS, Balzarro B, Alberti S, De Ronchi D, Serretti A., Free PMC Article | 09/26/2015 |
| Joubert syndrome-associated missense mutations alter the subcellular distribution and protein interactions of AHI1. | The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
Tuz K, Hsiao YC, Juárez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ., Free PMC Article | 07/13/2013 |
| 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. | Targeting primitive chronic myeloid leukemia cells by effective inhibition of a new AHI-1-BCR-ABL-JAK2 complex.
Chen M, Gallipoli P, DeGeer D, Sloma I, Forrest DL, Chan M, Lai D, Jorgensen H, Ringrose A, Wang HM, Lambie K, Nakamoto H, Saw KM, Turhan A, Arlinghaus R, Paul J, Stobo J, Barnett MJ, Eaves A, Eaves CJ, Holyoake TL, Jiang X., Free PMC Article | 05/11/2013 |
| 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. | The role of AHI1 and CDKN1C in cutaneous T-cell lymphoma progression.
Litvinov IV, Kupper TS, Sasseville D., Free PMC Article | 05/11/2013 |
| a role for AHI1 and CEP290 in multiple organs throughout development | Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.
Cheng YZ, Eley L, Hynes AM, Overman LM, Simms RJ, Barker A, Dawe HR, Lindsay S, Sayer JA., Free PMC Article | 03/9/2013 |
| There was a significant linear trend for increasing AHI1 gene copy number frequencies with increasing body mass index. | Association of copy number variation in the AHI1 gene with risk of obesity in the Chinese population.
Huang L, Teng D, Wang H, Sheng G, Liu T. | 05/26/2012 |
| 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. | AHI1 gene expression levels and BCR-ABL1 T315I mutations in chronic myeloid leukemia patients.
Balci TB, Sahin FI, Karakus S, Ozdogu H. | 05/12/2012 |
| Ahi1 mediates feeding behavior by interacting with 5-HT(2C)R to modulate the serotonin signaling pathway. | Hypothalamic Ahi1 mediates feeding behavior through interaction with 5-HT2C receptor.
Wang H, Huang Z, Huang L, Niu S, Rao X, Xu J, Kong H, Yang J, Yang C, Wu D, Li S, Li XJ, Liu T, Sheng G., Free PMC Article | 03/10/2012 |