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Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.
Shakil M, Harlalka GV, Ali S, Lin S, D'Atri I, Hussain S, Nasir A, Shahzad MA, Ullah MI, Self JE, Baple EL, Crosby AH, Mahmood S. Shakil M, et al. Among authors: d atri i. Eye (Lond). 2019 Aug;33(8):1339-1346. doi: 10.1038/s41433-019-0436-9. Epub 2019 Apr 17. Eye (Lond). 2019. PMID: 30996339 Free PMC article. Review.
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. Li L, et al. Among authors: d atri i. PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30157172 Free PMC article.
The Dlx5 and Foxg1 transcription factors, linked via miRNA-9 and -200, are required for the development of the olfactory and GnRH system.
Garaffo G, Conte D, Provero P, Tomaiuolo D, Luo Z, Pinciroli P, Peano C, D'Atri I, Gitton Y, Etzion T, Gothilf Y, Gays D, Santoro MM, Merlo GR. Garaffo G, et al. Among authors: d atri i. Mol Cell Neurosci. 2015 Sep;68:103-19. doi: 10.1016/j.mcn.2015.04.007. Epub 2015 Apr 30. Mol Cell Neurosci. 2015. PMID: 25937343 Free PMC article.