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Items: 1 to 20 of 87

1.

Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.

Doering JE, Kane K, Hsiao YC, Yao C, Shi B, Slowik AD, Dhagat B, Scott DD, Ault JG, Page-McCaw PS, Ferland RJ.

J Comp Neurol. 2008 Nov 10;511(2):238-56. doi: 10.1002/cne.21824.

2.

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.

J Biol Chem. 2013 May 10;288(19):13676-94. doi: 10.1074/jbc.M112.420786. Epub 2013 Mar 26.

3.

Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice.

Sheng G, Xu X, Lin YF, Wang CE, Rong J, Cheng D, Peng J, Jiang X, Li SH, Li XJ.

J Clin Invest. 2008 Aug;118(8):2785-95. doi: 10.1172/JCI35339.

4.

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA.

Nat Genet. 2004 Sep;36(9):1008-13. Epub 2004 Aug 22. Erratum in: Nat Genet. 2004 Oct;36(10):1126.

PMID:
15322546
5.

Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation.

Weng L, Lin YF, Li AL, Wang CE, Yan S, Sun M, Gaertig MA, Mitha N, Kosaka J, Wakabayashi T, Xu X, Tang B, Li S, Li XJ.

J Neurosci. 2013 May 8;33(19):8172-84. doi: 10.1523/JNEUROSCI.0119-13.2013.

6.

The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival.

Lessieur EM, Fogerty J, Gaivin RJ, Song P, Perkins BD.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):448-460. doi: 10.1167/iovs.16-20326.

7.

Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking.

Hsiao YC, Tong ZJ, Westfall JE, Ault JG, Page-McCaw PS, Ferland RJ.

Hum Mol Genet. 2009 Oct 15;18(20):3926-41. doi: 10.1093/hmg/ddp335. Epub 2009 Jul 22.

8.

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.

PLoS One. 2012;7(9):e44975. doi: 10.1371/journal.pone.0044975. Epub 2012 Sep 24.

9.

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.

Hum Mol Genet. 2015 May 1;24(9):2594-603. doi: 10.1093/hmg/ddv022. Epub 2015 Jan 23.

10.

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F.

Pediatr Nephrol. 2006 Jan;21(1):32-5. Epub 2005 Oct 21.

PMID:
16240161
11.

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG.

Am J Hum Genet. 2004 Dec;75(6):979-87. Epub 2004 Oct 4.

12.

Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1.

Westfall JE, Hoyt C, Liu Q, Hsiao YC, Pierce EA, Page-McCaw PS, Ferland RJ.

J Neurosci. 2010 Jun 30;30(26):8759-68. doi: 10.1523/JNEUROSCI.5229-09.2010.

13.

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA.

J Med Genet. 2006 Apr;43(4):334-9. Epub 2005 Sep 9.

14.

Joubert syndrome (and related disorders) (OMIM 213300).

Parisi MA, Doherty D, Chance PF, Glass IA.

Eur J Hum Genet. 2007 May;15(5):511-21. Epub 2007 Mar 21.

15.

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development.

Simms RJ, Hynes AM, Eley L, Inglis D, Chaudhry B, Dawe HR, Sayer JA.

Cell Mol Life Sci. 2012 Mar;69(6):993-1009. doi: 10.1007/s00018-011-0826-z. Epub 2011 Sep 29.

PMID:
21959375
16.

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ.

Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. Epub 2007 Oct 6.

PMID:
18054307
17.

Clinical and molecular analysis in Joubert syndrome.

Pellegrino JE, Lensch MW, Muenke M, Chance PF.

Am J Med Genet. 1997 Oct 3;72(1):59-62.

PMID:
9295076
18.

AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia.

Amann-Zalcenstein D, Avidan N, Kanyas K, Ebstein RP, Kohn Y, Hamdan A, Ben-Asher E, Karni O, Mujaheed M, Segman RH, Maier W, Macciardi F, Beckmann JS, Lancet D, Lerer B.

Eur J Hum Genet. 2006 Oct;14(10):1111-9. Epub 2006 Jun 14. Erratum in: Eur J Hum Genet. 2007 Mar;15(3):387.

19.

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group.

Ann Neurol. 2006 Mar;59(3):527-34.

20.

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.

J Med Case Rep. 2015 Nov 5;9:254. doi: 10.1186/s13256-015-0732-3.

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