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Year Number of Results
1993 4
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2010 2
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2012 2
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2015 4
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PubMed for id: 9742

40 results

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Page 1
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
Novel IFT140 variants cause spermatogenic dysfunction in humans.
Wang X, Sha YW, Wang WT, Cui YQ, Chen J, Yan W, Hou XT, Mei LB, Yu CC, Wang J. Wang X, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e920. doi: 10.1002/mgg3.920. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31397098 Free PMC article. Clinical Trial.
The Role of IFT140 in Osteogenesis of Adult Mice Long Bone.
Tao D, Xue H, Zhang C, Li G, Sun Y. Tao D, et al. J Histochem Cytochem. 2019 Aug;67(8):601-611. doi: 10.1369/0022155419847188. Epub 2019 Apr 29. J Histochem Cytochem. 2019. PMID: 31034313 Free PMC article.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J. Geoffroy V, et al. Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8. Hum Mutat. 2018. PMID: 29688594 Free article.
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR. Peña-Padilla C, et al. Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27874174
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT. Hull S, et al. Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976. Invest Ophthalmol Vis Sci. 2016. PMID: 26968735 Free article.
Mutations in human IFT140 cause non-syndromic retinal degeneration.
Xu M, Yang L, Wang F, Li H, Wang X, Wang W, Ge Z, Wang K, Zhao L, Li H, Li Y, Sui R, Chen R. Xu M, et al. Hum Genet. 2015 Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x. Epub 2015 Jul 28. Hum Genet. 2015. PMID: 26216056 Free PMC article.
40 results