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Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Extensive genetic studies have identified numerous genes whose mutations results on Parkinson’s disease (PD), including synaptojanin 1 (SJ1/Park20), a nerve terminal enriched protein that includes an inositol 4-phosphatase domain (Sac
Analysis of APOBEC-induced mutations in yeast strains with low levels of replicative DNA polymerases
Autor:
Thomas D. Petes, Leszek J. Klimczak, Ke Zhang, Cynthia J. Sakofsky, Yang Sui, Dmitry A. Gordenin, Dao-Qiong Zheng, Natalie Saini, Lei Qi
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Yeast strains with low levels of the replicative DNA polymerases (alpha, delta, and epsilon) have high levels of chromosome deletions, duplications, and translocations. By examining the patterns of mutations induced in strains with low levels of DNA
Autor:
Virginia C Rodriguez-Cortez, Francisca Alcaraz-Pérez, Leonard I. Zon, Isaac Adatto, Miriam Fernandez-Lajarín, Diana García-Moreno, Victoriano Mulero, María L. Cayuela, Suneet Agarwal, Clara Bueno, Manuel Bernabé-García, Elena Martínez-Balsalobre, Marlies P. Rossmann, Ana B. Pérez-Oliva, Pablo Menendez, Jesús García-Castillo
Publikováno v:
Proc Natl Acad Sci U S A
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure and cancer predisposition syndrome caused by mutations in telomerase or telomeric proteins. Here, we report that zebrafish telomerase RNA (terc) binds to specific DNA sequences of ma
Autor:
Zhi Duan, Varun Gupta, Matthew D. Scharff, Thomas MacCarthy, Yongwei Zhang, Guojun Yu, Xiaohua Wang, Linda B. Baughn
Publikováno v:
Proc Natl Acad Sci U S A
Somatic hypermutation (SHM) and class-switch recombination (CSR) of the immunoglobulin (Ig) genes allow B cells to make antibodies that protect us against a wide variety of pathogens. SHM is mediated by activation-induced deaminase (AID), occurs at a
Publikováno v:
Proceedings of the National Academy of Sciences. 114:12731-12736
γ-secretase is an intramembrane protease complex consisting of nicastrin, presenilin-1/2, APH-1a/b, and Pen-2. Hydrolysis of the 99-residue transmembrane fragment of amyloid precursor protein (APP-C99) by γ-secretase produces β-amyloid (Aβ) pepti
Autor:
Ging Kuo Wang, Sho-Ya Wang
Publikováno v:
Proceedings of the National Academy of Sciences. 114:10491-10496
Poison-dart Phyllobates terribilis frogs sequester lethal amounts of steroidal alkaloid batrachotoxin (BTX) in their skin as a defense mechanism against predators. BTX targets voltage-gated Na+ channels and enables them to open persistently. How BTX
Autor:
Sai-Juan Chen, Ze-Guang Han, Wei-Na Zhang, Yu-Jun Dai, Ying Yang, Xianbin Su, Yue-Ying Wang, Jinyan Huang, Song-Fang Wu, Li Xia, Xiao-Dong Shi, Jian-Qing Mi, Jie Xu, Jing Lu, Zhu Chen, Ting Huang, Pan-Pan Wang
Publikováno v:
Proceedings of the National Academy of Sciences. 114:5237-5242
Significance DNMT3A is a critical epigenetic modifier and tumor suppressor in the hematopoietic system. This gene is frequently mutated in hematopoietic malignancies, including acute myeloid leukemia (AML), with Dnmt3a R878H being the most common mut
Autor:
Meredith L. Jenkins, Braden D. Siempelkamp, John E. Burke, Gillian L. Dornan, Oscar Vadas, Carrie L. Lucas
Publikováno v:
Proceedings of the National Academy of Sciences. 114:1982-1987
Activated PI3K Delta Syndrome (APDS) is a primary immunodeficiency disease caused by activating mutations in either the leukocyte-restricted p110δ catalytic (PIK3CD) subunit or the ubiquitously expressed p85α regulatory (PIK3R1) subunit of class IA
Autor:
Ying-Chih Lin, Nichole Owen, Irina G. Minko, Sabine S. Lange, Junya Tomida, Liang Li, Michael P. Stone, Richard D. Wood, Amanda K. McCullough, R. Stephen Lloyd
Publikováno v:
Proceedings of the National Academy of Sciences. 113:13774-13779
Routine dietary consumption of foods that contain aflatoxins is the second leading cause of environmental carcinogenesis worldwide. Aflatoxin-driven mutagenesis is initiated through metabolic activation of aflatoxin B1 (AFB1) to its epoxide form that
Autor:
Jung-Hyun Kim, Brenda J. Andrews, Cornelius F. Boerkoel, Erin B. Styles, J. Sidney Ang, Sohrab P. Shah, Yi Kan Wang, Philip Hieter, Vladimir Larionov, Supipi Duffy, Tejomayee Singh, Hok Khim Fam
Publikováno v:
Proceedings of the National Academy of Sciences. 113:9967-9976
Somatic copy number amplification and gene overexpression are common features of many cancers. To determine the role of gene overexpression on chromosome instability (CIN), we performed genome-wide screens in the budding yeast for yeast genes that ca