Search Results - "SHOMI BHATTACHARYA"

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance by Venturini, Giulia, Rose, Anna M, Shah, Amna Z, Bhattacharya, Shomi S, Rivolta, Carlo

“…Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some…”
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Concise Review: Reactive Astrocytes and Stem Cells in Spinal Cord Injury: Good Guys or Bad Guys? by Lukovic, Dunja, Stojkovic, Miodrag, Moreno-Manzano, Victoria, Jendelova, Pavla, Sykova, Eva, Bhattacharya, Shomi S., Erceg, Slaven

“…Spinal cord injury (SCI) usually results in long lasting locomotor and sensory neuron degeneration below the injury. Astrocytes normally play a decisive role…”
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Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait by Wright, Alan F, Bhattacharya, Shomi S, Chakarova, Christina F, Abd El-Aziz, Mai M

“…Key Points The major cause of adult blindness in industrialized countries is the progressive dysfunction and death of retinal photoreceptors. We discuss…”
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EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones by Alfano, Giovanna, Kruczek, Przemyslaw M, Shah, Amna Z, Kramarz, Barbara, Jeffery, Glen, Zelhof, Andrew C, Bhattacharya, Shomi S

“…Mutations in the EYS gene are a common cause of autosomal recessive retinitis pigmentosa (arRP), yet the role of the EYS protein in humans is presently…”
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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases by Audo, Isabelle, Bujakowska, Kinga M, Léveillard, Thierry, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Germain, Aurore, Antonio, Aline, Michiels, Christelle, Saraiva, Jean-Paul, Letexier, Mélanie, Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina

“…Inherited retinal disorders are clinically and genetically heterogeneous with more than 150 gene defects accounting for the diversity of disease phenotypes. So…”
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Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis by Bainbridge, James W.B, Smith, Alexander J, Barker, Susie S, Robbie, Scott, Henderson, Robert, Balaggan, Kamaljit, Viswanathan, Ananth, Holder, Graham E, Stockman, Andrew, Tyler, Nick, Petersen-Jones, Simon, Bhattacharya, Shomi S, Thrasher, Adrian J, Fitzke, Fred W, Carter, Barrie J, Rubin, Gary S, Moore, Anthony T, Ali, Robin R

“…A form of Leber's congenital amaurosis is caused by mutant RPE65 , a critical component of the visual cycle. Two early clinical trials to assess subretinal…”
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Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness by Zeitz, Christina, Jacobson, Samuel G., Hamel, Christian P., Bujakowska, Kinga, Neuillé, Marion, Orhan, Elise, Zanlonghi, Xavier, Lancelot, Marie-Elise, Michiels, Christelle, Schwartz, Sharon B., Bocquet, Béatrice, Antonio, Aline, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Luu, Tien D., Sennlaub, Florian, Nguyen, Hoan, Poch, Olivier, Dollfus, Hélène, Lecompte, Odile, Kohl, Susanne, Sahel, José-Alain, Bhattacharya, Shomi S., Audo, Isabelle

“…Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder. Two forms can be distinguished clinically:…”
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Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy by Sergouniotis, Panagiotis I., Chakarova, Christina, Murphy, Cian, Becker, Mirjana, Lenassi, Eva, Arno, Gavin, Lek, Monkol, MacArthur, Daniel G., Bhattacharya, Shomi S., Moore, Anthony T., Holder, Graham E., Robson, Anthony G., Wolfrum, Uwe, Webster, Andrew R., Plagnol, Vincent

“…In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods;…”
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Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa by Rose, Anna M., Shah, Amna Z., Venturini, Giulia, Krishna, Abhay, Chakravarti, Aravinda, Rivolta, Carlo, Bhattacharya, Shomi S.

“…PRPF31 -associated retinitis pigmentosa presents a fascinating enigma: some mutation carriers are blind, while others are asymptomatic. We identify the major…”
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Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma by Do, Tan, Nakano, Masakazu, George, Ronnie, Abu-Amero, Khaled, Duvesh, Roopam, Chen, Li Jia, Perera, Shamira A, Qiao, Chunyan, Wong, Hon-Tym, Dao, Thi Lam Huong, Ikeda, Yoko, Perez-Grossmann, Rodolfo A, Zarnowski, Tomasz, Tam, Pancy O S, Ayub, Humaira, Akhtar, Farah, Micheal, Shazia, Chew, Paul T K, Luu, Tam Thi, Wanichwecharungruang, Boonsong, Husain, Rahat, Jap, Aliza, Goh, David, Su, Daniel H, Wang, Huaizhou, Yip, Leonard W, Makornwattana, Manchima, Leuenberger, Edgar U, Tello, Celso, Kurimoto, Yasuo, Thapa, Suman S, Salmon, John F, Sohn, Yong Ho, Ozaki, Mineo, Lai, Jimmy S M, Nakano, Satoko, Tang, Guangxian, Wu, Renyi, Martinez, Jose Maria, Aung, Yin Mon, Fang, Seng Kheong, Chen, Xiao Yin, Foo, Jia Nee, Sim, Kar Seng, Wong, Tina T, Kavitha, Srinivasan, Krishnadas, Subbiah R, Shantha, Balekudaru, Lim, Boon-Ang, Ogle, Jeanne, de Souza, Bruno B, Aquino, Maria C, Fong, Guillermo Barreto, Fujita, Ricardo, Waseem, Naushin, Low, Sancy, Pham, Huan Nguyen, Al-Shahwan, Sami, Mohanty, Kuldeep, Faiq, Muneeb A, Hewitt, Alex W, Catacutan, Mary Ann T, Felarca, Irene R, Consolandi, Giulia, Pignata, Giulia, Mangkornkanokpong, Lerprat, Chansangpetch, Sunee, Choy, Bonnie N K, Than, Hlaing May, Hibberd, Martin L, Png, Eileen, Bei, Jinxin, Zeng, Yi Xin, Karkey, Abhilasha, Frezzotti, Paolo, Allingham, R Rand, Hauser, Michael A, Lim, Soon Thye, Chew, Soo Hong, Sakuntabhai, Anavaj, Snippe, Harm, Stead, Richard, Zaw, Su Nyunt, Shetty, Rohit, Zahari, Mimiwati, Kubota, Toshiaki, Hwang, Young Hoon, Jeoung, Jin Wook, Srisamran, Nuttamon, Sandragasu, Thayanithi, Lozano-Giral, David, Cheng, Ching-Yu, Yonahara, Michiko, Xu, Liang, Do, Nhu Hon, Sundaresan, Periasamy, Foster, Paul J, Vijaya, Lingam, Tashiro, Kei, Aung, Tin

“…Chiea Chuen Khor, Tin Aung and colleagues report the results of a large genome-wide association study of primary angle closure glaucoma. They identify five new…”
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Distinct gene expression profiles underlie morphological and etiological differences in pediatric cataracts by Shanbagh, Shaika, Matalia, Jyoti, Kannan, Ramaraj, Shetty, Rohit, Panmand, Pratibha, Muthu, Sumitha, Chaurasia, Shyam, Deshpande, Vrushali, Bhattacharya, Shomi, Gopalakrishnan, Abilash, Ghosh, Arkasubhra

“…Purpose: Pediatric cataract is a major cause of preventable childhood blindness worldwide. Although genetic mutations or infections have been described in…”
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267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation by Dopazo, Joaquín, Amadoz, Alicia, Bleda, Marta, Garcia-Alonso, Luz, Alemán, Alejandro, García-García, Francisco, Rodriguez, Juan A, Daub, Josephine T, Muntané, Gerard, Rueda, Antonio, Vela-Boza, Alicia, López-Domingo, Francisco J, Florido, Javier P, Arce, Pablo, Ruiz-Ferrer, Macarena, Méndez-Vidal, Cristina, Arnold, Todd E, Spleiss, Olivia, Alvarez-Tejado, Miguel, Navarro, Arcadi, Bhattacharya, Shomi S, Borrego, Salud, Santoyo-López, Javier, Antiñolo, Guillermo

“…Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across…”
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Cleavage of Mer Tyrosine Kinase (MerTK) from the Cell Surface Contributes to the Regulation of Retinal Phagocytosis by Law, Ah-Lai, Parinot, Célia, Chatagnon, Jonathan, Gravez, Basile, Sahel, José-Alain, Bhattacharya, Shomi S., Nandrot, Emeline F.

“…Phagocytosis of apoptotic cells by macrophages and spent photoreceptor outer segments (POS) by retinal pigment epithelial (RPE) cells requires several…”
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CRB1 mutations in inherited retinal dystrophies by Bujakowska, Kinga, Audo, Isabelle, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Léveillard, Thierry, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina

“…Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod–cone…”
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Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness by Audo, Isabelle, Bujakowska, Kinga, Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne, Luu, Tien D., Lecompte, Odile, Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Sharon, Dror, Banin, Eyal, Jacobson, Samuel G., Bonneau, Dominique, Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina

“…Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder…”
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TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene by Czub, Barbara, Shah, Amna Z, Alfano, Giovanna, Kruczek, Przemysław M, Chakarova, Christina F, Bhattacharya, Shomi S

“…The significance of the ubiquitin-proteasome system (UPS) for protein degradation has been highlighted in the context of neurodegenerative diseases, including…”
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Depleted hexokinase1 and lack of AMPKα activation favor OXPHOS-dependent energetics in retinoblastoma tumors by Babu, Vishnu Suresh, Mallipatna, Ashwin, Dudeja, Gagan, Shetty, Rohit, Nair, Archana Padmanabhan, Tun, Sai Bo Bo, Ho, Candice Ee Hua, Chaurasia, Shyam S., Bhattacharya, Shomi S., Verma, Navin Kumar, Lakshminarayanan, Rajamani, Guha, Nilanjan, Heymans, Stephane, Barathi, Veluchamy Amutha, Ghosh, Arkasubhra

“…Lack of retinoblastoma (Rb) protein causes aggressive intraocular retinal tumors in children. Recently, Rb tumors have been shown to have a distinctly altered…”
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Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma by Waseem, Naushin H, Low, Sancy, Shah, Amna Z, Avisetti, Deepa, Ostergaard, Pia, Simpson, Michael, Niemiec, Katarzyna A, Martin-Martin, Belen, Aldehlawi, Hebah, Usman, Saima, Lee, Pak Sang, Khawaja, Anthony P, Ruddle, Jonathan B, Shah, Ameet, Sackey, Ege, Day, Alexander, Jiang, Yuzhen, Swinfield, Geoff, Viswanathan, Ananth, Alfano, Giovanna, Chakarova, Christina, Cordell, Heather J, Garway-Heath, David F, Khaw, Peng T, Bhattacharya, Shomi S, Waseem, Ahmad, Foster, Paul J

“…Current estimates suggest 50% of glaucoma blindness worldwide is caused by primary angle-closure glaucoma (PACG) but the causative gene is not known. We used…”
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NMNAT1 mutations cause Leber congenital amaurosis by Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A

“…Eric Pierce, Xiaowu Gai and colleagues identify mutations in NMNAT1 as a new cause of Leber congenital amaurosis, an early-onset form of retinal degeneration…”
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Gene of the month: PRPF31 by Rose, Anna M, Luo, Rong, Radia, Utsav K, Bhattacharya, Shomi S

“…Pre-mRNA splicing is an essential process in eukaryotic cells where the transcribed intronic sequences are removed, prior to translation into protein. PRPF31…”
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