Search Results - "stop codon"

Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function by Lilian Cruz, Bence György, Pike See Cheah, Benjamin P. Kleinstiver, William A. Eimer, Sara P. Garcia, Nutan Sharma, Laurie J. Ozelius, D. Cristopher Bragg, J. Keith Joung, Osmar Norberto de Souza, Luis Fernando Saraiva Macedo Timmers, Xandra O. Breakefield

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A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report by Hajar ARYAN, Atekeh BAHADORI, Dariush D. FARHUD, Marjan ZARIF YEGANEH, Haniyeh POURKALHOR

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CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2 by Javier Poyatos-García, Águeda Blázquez-Bernal, Marta Selva-Giménez, Ariadna Bargiela, Jorge Espinosa-Espinosa, Rafael P. Vázquez-Manrique, Anne Bigot, Ruben Artero, Juan Jesús Vilchez

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An updated mutation spectrum of the γ-secretase complex: Novel NCSTN gene mutation in an Indian family with hidradenitis suppurativa and acne conglobata by Uppala Ratnamala, Nayan K Jain, Devendrasinh D Jhala, Pullabatla V S. Prasad, Nazia Saiyed, Sreelatha Nair, Uppala Radhakrishna

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Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate by Tianhui Xu, Mengmeng Du, Xinhua Bu, Donglan Yuan, Zhiping Gu, Pei Yu, Xuefang Li, Jiao Chen, Chunyan Jin

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A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice by Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Heymut Omran, Rolf W. Stottmann

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A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia by Ceren Saygı, Yasemin Alanay, Uğur Sezerman, Aslı Yenenler, Nesrin Özören

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Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing by Qian Ma, Lingyi Che, Yibing Chen, Zhuoyu Gu

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Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease by Nicholas P Clayton, Carol A Nelson, Timothy Weeden, Kristin M Taylor, Rodney J Moreland, Ronald K Scheule, Lucy Phillips, Andrew J Leger, Seng H Cheng, Bruce M Wentworth

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Germline mutations of TP53 gene can be a key factor in prostate cancer genesis by Kawtar Aboulalaa, Abdelilah Laraqui, Reda Tagajdid, Khalid Ennibi, Moulay Mustapha Ennaji

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X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene by Hamza Chouk, Sarra Saad, Sarra Dimassi, Nadia Ghariani Fetoui, Ayda Bennour, Rima Gammoudi, Haifa Elmabrouk, Ali Saad, Mohamed Denguezli, Dorra H'mida

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Filaggrin gene mutation in pediatric patients with atopic dermatitis: A look into Indian gene pool, a pilot study by K A Rajeshwari, Merin M Thomas, Geetha Nagaraj

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A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome by Yunqian Chi, Yi Yao, Futao Sun, Wenhong Zhang, Zihan Zhang, Yunhe Wang, Wei Hao

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Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature by Ahmet Kablan, Elifcan Tasdelen

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Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD by Maruyama Koichi, Awano Hiroyuki, Zhang Zhujun, Itoh Kyoko, Takeshima Yasuhiro, Okizuka Yo, Kumagai Toshiyuki, Yagi Mariko, Matsuo Masafumi

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Hypoprolactinemia as a Clue to Diagnosis of Mild Central Hypothyroidism due to IGSF1 Deficiency by Anastasios Papadimitriou, Anna Papadopoulou, Kleanthis Kleanthous, Dimitrios T. Papadimitriou, Vassiliki Papaevangelou

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Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa by Huang Yukan, Zhang Jing, Li Chang, Yang Guohua, Liu Mugen, Wang Qing K, Tang Zhaohui

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Effect of <i>ACTN3</i> Genotype on Sports Performance, Exercise-Induced Muscle Damage, and Injury Epidemiology by Gabriel Baltazar-Martins, Jorge Gutiérrez-Hellín, Millán Aguilar-Navarro, Carlos Ruiz-Moreno, Victor Moreno-Pérez, Álvaro López-Samanes, Raúl Domínguez, Juan Del Coso

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Eight previously unidentified mutations found in the <it>OA1 </it>ocular albinism gene by Dufier Jean-Louis, Kaplan Josseline, Mezer Eedy, Said Edith, Lacombe Didier, Sutherland Joanne, Levin Alex V, Héon Elise, Bonneau Dominique, Munier Francis L, Schorderet Daniel F, Dollfus Hélène, Marchant Dominique, Jaliffa Carolina, Vêtu Christelle, Roche Olivier, Mayeur Hélène, Marsac Cécile, Menasche Maurice, Abitbol Marc

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Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease by Xiaoli Li, Dingwei Zhang, Jiahui Ding, Li Li, Zhenghui Wang

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