Search Results - "D'Atri, Ilaria"

STIM1 Is Required for Remodeling of the Endoplasmic Reticulum and Microtubule Cytoskeleton in Steering Growth Cones by Pavez, Macarena, Thompson, Adrian C, Arnott, Hayden J, Mitchell, Camilla B, D'Atri, Ilaria, Don, Emily K, Chilton, John K, Scott, Ethan K, Lin, John Y, Young, Kaylene M, Gasperini, Robert J, Foa, Lisa

“…The spatial and temporal regulation of calcium signaling in neuronal growth cones is essential for axon guidance. In growth cones, the endoplasmic reticulum…”
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Interference with the Cannabinoid Receptor CB1R Results in Miswiring of GnRH3 and AgRP1 Axons in Zebrafish Embryos by Zuccarini, Giulia, D'Atri, Ilaria, Cottone, Erika, Mackie, Ken, Shainer, Inbal, Gothilf, Yoav, Provero, Paolo, Bovolin, Patrizia, Merlo, Giorgio Roberto

“…The G protein-coupled cannabinoid receptors type 1 (CB1R) and type 2 (CB2R), and their endocannabinoid (eCBs) ligands, have been implicated in several aspects…”
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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 by Garaffo, Giulia, Conte, Daniele, Provero, Paolo, Tomaiuolo, Daniela, Luo, Zheng, Pinciroli, Patrizia, Peano, Clelia, D'Atri, Ilaria, Gitton, Yorick, Etzion, Talya, Gothilf, Yoav, Gays, Dafne, Santoro, Massimo M., Merlo, Giorgio R.

“…During neuronal development and maturation, microRNAs (miRs) play diverse functions ranging from early patterning, proliferation and commitment to…”
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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 by Shakil, Muhammad, Harlalka, Gaurav V., Ali, Shamshad, Lin, Siying, D’Atri, Ilaria, Hussain, Shabbir, Nasir, Abdul, Shahzad, Muhammad Aiman, Ullah, Muhammad Ikram, Self, Jay E., Baple, Emma L., Crosby, Andrew H., Mahmood, Saqib

“…Purpose To investigate eight previously unreported Pakistani families with genetically undefined OCA for mutations in TYR . Methods Sanger sequencing of TYR…”
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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) by D'Atri, Ilaria, Martin, Emily-Rose, Yang, Liming, Sears, Elizabeth, Baple, Emma, Crosby, Andrew H., Chilton, John K., Oguro-Ando, Asami

“…•Enhanced immunoprecipitation and LC-MS analysis confirm CLCC1’s primary interactions with proteins localized to the ER and nuclear outer membrane, affirming…”
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Defining the Genetic and Molecular Basis of Inherited eye Diseases Present in Pakistan by D'Atri, Ilaria

“…Human Mendelian genetics aims to define the link between the phenotypical manifestations of a disease, and the identity of the gene that when mutated causes…”
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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa by Li, Lin, Jiao, Xiaodong, D'Atri, Ilaria, Ono, Fumihito, Nelson, Ralph, Chan, Chi-Chao, Nakaya, Naoki, Ma, Zhiwei, Ma, Yan, Cai, Xiaoying, Zhang, Longhua, Lin, Siying, Hameed, Abdul, Chioza, Barry A, Hardy, Holly, Arno, Gavin, Hull, Sarah, Khan, Muhammad Imran, Fasham, James, Harlalka, Gaurav V, Michaelides, Michel, Moore, Anthony T, Coban Akdemir, Zeynep Hande, Jhangiani, Shalini, Lupski, James R, Cremers, Frans P M, Qamar, Raheel, Salman, Ahmed, Chilton, John, Self, Jay, Ayyagari, Radha, Kabir, Firoz, Naeem, Muhammad Asif, Ali, Muhammad, Akram, Javed, Sieving, Paul A, Riazuddin, Sheikh, Baple, Emma L, Riazuddin, S Amer, Crosby, Andrew H, Hejtmancik, J Fielding

“…We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the…”
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Exposure to cannabinoid receptor 1 ligands induces miswiring of GnRH axons in the brain of zebrafish embryos by Bovolin, Patrizia, D’Atri, Ilaria, Cottone, Erika, Pomatto, Valentina, Zuccarini, Giulia, Gothilf, Yoav, Merlo, Giorgio R.

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Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families by Arshad, Muhammad Waqar, Harlalka, Gaurav V., Lin, Siying, D'Atri, Ilaria, Mehmood, Sarmad, Shakil, Muhammad, Hassan, Muhammad Jawad, Chioza, Barry A., Self, Jay E., Ennis, Sarah, O'Gorman, Luke, Norman, Chelsea, Aman, Tahir, Ali, Shaheer Sabz, Kaul, Haiba, Baple, Emma L., Crosby, Andrew H., Ullah, Muhammad Ikram, Shabbir, Muhammad Imran

“…Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder of abnormal melanin synthesis, resulting in decreased or absent pigmentation of eyes,…”
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