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Page 1
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.
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.
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STIM1 Is Required for Remodeling of the Endoplasmic Reticulum and Microtubule Cytoskeleton in Steering Growth Cones.
Pavez M, Thompson AC, Arnott HJ, Mitchell CB, D'Atri I, Don EK, Chilton JK, Scott EK, Lin JY, Young KM, Gasperini RJ, Foa L.
Pavez M, et al. Among authors: d atri i.
J Neurosci. 2019 Jun 26;39(26):5095-5114. doi: 10.1523/JNEUROSCI.2496-18.2019. Epub 2019 Apr 25.
J Neurosci. 2019.
PMID: 31023836
Free PMC article.
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Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM).
D'Atri I, Martin ER, Yang L, Sears E, Baple E, Crosby AH, Chilton JK, Oguro-Ando A.
D'Atri I, et al.
Neurosci Lett. 2024 Apr 13:137778. doi: 10.1016/j.neulet.2024.137778. Online ahead of print.
Neurosci Lett. 2024.
PMID: 38621504
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Interference with the Cannabinoid Receptor CB1R Results in Miswiring of GnRH3 and AgRP1 Axons in Zebrafish Embryos.
Zuccarini G, D'Atri I, Cottone E, Mackie K, Shainer I, Gothilf Y, Provero P, Bovolin P, Merlo GR.
Zuccarini G, et al. Among authors: d atri i.
Int J Mol Sci. 2019 Dec 25;21(1):168. doi: 10.3390/ijms21010168.
Int J Mol Sci. 2019.
PMID: 31881740
Free PMC article.
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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.
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