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Autor:
Corvelo, Tereza Cristina de Oliveira1 tereza@ufpa.br, Loiola, Rosane do Socorro Pompeu de2, Aguiar, Délia Cristina Figueira1, Matos, Gyselly de Cássia Bastos de1, Brito, Danielle Calado de1
Publikováno v:
PLoS ONE. Jul2013, Vol. 8 Issue 7, p1-7. 7p.
Autor:
Elise Merritt, Chang S. Chan, Nicola Barnard, Bing Xia, Ying Chen, Anchal Sharma, Amar H. Mahdi, Jorge S. Reis-Filho, Subhajyoti De, Shridar Ganesan, Pier Selenica, Britta Weigelt, Yanying Huo
Publikováno v:
Genes & Diseases. 9:807-813
The BRCA1-PALB2-BRCA2 axis, or the BRCA pathway, plays key roles in genome stability maintenance and suppression of breast and several other cancers. Due to frequent p53 mutations in human BRCA1 breast cancers and mouse mammary tumors from Brca1, Brc
Autor:
Edward J. Steele, Andrew Franklin
Publikováno v:
Trends in Genetics. 38:426-436
Somatic hypermutation at antibody loci affects both deoxyadenosine-deoxythymidine (A/T) and deoxycytidine-deoxyguanosine (C/G) pairs. Deamination of C to deoxyuridine (U) by activation-induced deaminase (AID) explains how mutation at C/G pairs is pot
Autor:
Feng Zhang, Tao Cheng, Jing Xu, Guo-Hua Li, Juan-Juan Zhao, Mei Zhao, Xiao-Bing Zhang, Meng-Di Yin, Yi-Dan Sun, Xin-Yu Sun, Beldon Zhang, Jian-Ping Zhang, Fei-Ying Meng, Si-Ang Li
Publikováno v:
Human Gene Therapy. 33:404-420
Hemophilia A (HA) is a monogenic disease characterized by plasma clotting factor 8 (F8) deficiency due to F8 mutation. We have been attempting to cure HA permanently using a CRISPR-Cas9 gene-editing strategy. Here, we induced targeted integration of
Autor:
Gladys L. Caldeira, R. P. Gouveia, Carlos A. V. Barreto, João Peça, Mohamed Edfawy, Ana Luísa Carvalho, Nuno Beltrão, A. S. Inacio, Joana R. Guedes, R. Macedo, B. Cruz, Susana R. Louros, Irina S. Moreira, Tiago Rondão, M. V. Rodrigues
Publikováno v:
Molecular Psychiatry. 27:2457-2469
Mutations linked to neurodevelopmental disorders, such as intellectual disability (ID), are frequently found in genes that encode for proteins of the excitatory synapse. Transmembrane AMPA receptor regulatory proteins (TARPs) are AMPA receptor auxili
Autor:
Manuel Sobrinho-Simões, Silke Haim, Leonardo Caporali, Monica De Luise, Oleksiy Tsybrovskyy, Dario de Biase, Giuseppe Gasparre, Valerio Carelli, Dominik Hackl, Claudio Fiorini, Giovanni Tallini, Larisa Imamovic
Publikováno v:
The Journal of Pathology: Clinical Research, Vol 8, Iss 2, Pp 155-168 (2022)
Papillary thyroid carcinoma tall cell variant (PTC-TCV), a form of PTC regarded as an aggressive subtype, shares several morphologic features with oncocytic tumors. Pathogenic homoplasmic/highly heteroplasmic somatic mitochondrial DNA (mtDNA) mutatio
Autor:
Jiarui Wang, Xianqin Zhang, Tingting Zou, Dazhi Zhang, Wenqiang Liu, Zhenxing Liu, Xuejie Peng, Zhengyi Ni, Yang Tan, Meiqi Hou, Mi Zhou, Chao Yuan, Xiaopei Zhou
Publikováno v:
Biochemical and Biophysical Research Communications. 591:124-129
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare monogenetic disease, which is characterized by susceptibility to some weakly virulent mycobacteria. Here, we explored the pathogenic genes and molecular mechanisms of MSMD patients. W
Autor:
Changqing Zeng, Amir Abliz, Yaqiang Hong, Xinchang Zheng, Zhen Wu, Xiaonan Guan, Qianfei Wang, Mengfei Liu, Qingtao Hu, Aili Chen, Fuxin Zhao, Jian Bai, Shaoyan Hu, Hong Cai, Wei Chen, Junting Zhang, Xiangtian Zhou, Dake Zhang, Yang Ke, Kenan Gong, Yue Ma, Hongzhu Qu, Liang Wang, Shujuan Lai, Shuang Hao
Publikováno v:
Genomics, Proteomics & Bioinformatics. 20:177-191
Postzygotic mutations are acquired in normal tissues throughout an individual's lifetime and hold clues for identifying mutagenic factors. Here, we investigated postzygotic mutation spectra of healthy individuals using optimized ultra-deep exome sequ
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-16 (2022)
Background The mutational profile of cancer reflects the activity of the mutagenic processes which have been operative throughout the lineage of the cancer cell. These processes leave characteristic profiles of somatic mutations called mutational sig
Autor:
Edwin P. Kirk, Robert W. Taylor, Canny Sugiana, Denise M. Kirby, Avihu Boneh, Hans Henrik M. Dahl, Renato Salemi, Katrina M. Bell, Akira Ohtake, David R. Thorburn, Michael T. Ryan, Lee Parry
Complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a min
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d509e64439ba9680fdc699a1acc871a