Results 21 to 30 of about 913,987 (276)

rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms

Human Genomics, 2022
Background Ligation of CD28 with ligands such as CD80 or CD86 provides a critical second signal alongside antigen presentation by class II major histocompatibility complex expressed on antigen-presenting cells through the T cell antigen receptor for ...
Yuki Hitomi, Yoshihiro Aiba, Kazuko Ueno, Nao Nishida, Yosuke Kawai, Minae Kawashima, Makoto Tsuiji, Chisato Iwabuchi, Sanami Takada, Noriko Miyake, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura   +12 more
doaj   +1 more source

Genome-Wide Association Study for Chronic Hepatitis B Infection in the Thai Population

Frontiers in Genetics, 2022
To identify novel host genetic variants that predispose to hepatitis B virus (HBV) persistence, we performed the first genome-wide association study in the Thai population involving 318 cases of chronic hepatitis B and 309 healthy controls after quality ...
Saeideh Ashouri, Saeideh Ashouri, Seik-Soon Khor, Seik-Soon Khor, Yuki Hitomi, Hiromi Sawai, Nao Nishida, Masaya Sugiyama, Yosuke Kawai, Yosuke Kawai, Nawarat Posuwan, Nawarat Posuwan, Pisit Tangkijvanich, Piyawat Komolmit, Piyawat Komolmit, Makoto Tsuiji, Vorasuk Shotelersuk, Yong Poovorawan, Masashi Mizokami, Katsushi Tokunaga, Katsushi Tokunaga   +20 more
doaj   +1 more source

rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis

Scientific Reports, 2021
Primary biliary cholangitis (PBC) is a chronic, progressive cholestatic liver disease in which intrahepatic bile ducts are destroyed by an autoimmune reaction.
Yuki Hitomi, Yoshihiro Aiba, Yosuke Kawai, Kaname Kojima, Kazuko Ueno, Nao Nishida, Minae Kawashima, Olivier Gervais, Seik-Soon Khor, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura, Makoto Tsuiji   +12 more
doaj   +1 more source

Importance of HBsAg recognition by HLA molecules as revealed by responsiveness to different hepatitis B vaccines

Scientific Reports, 2021
Hepatitis B (HB) vaccines (Heptavax-II and Bimmugen) designed based on HBV genotypes A and C are mainly used for vaccination against HB in Japan. To determine whether there are differences in the genetic background associated with vaccine responsiveness,
Nao Nishida, Masaya Sugiyama, Jun Ohashi, Yosuke Kawai, Seik-Soon Khor, Sohji Nishina, Kazumi Yamasaki, Hirohisa Yazaki, Kaori Okudera, Akihiro Tamori, Yuichiro Eguchi, Aiko Sakai, Keisuke Kakisaka, Hiromi Sawai, Takayo Tsuchiura, Miyuki Ishikawa, Keisuke Hino, Ryo Sumazaki, Yasuhiro Takikawa, Tatsuo Kanda, Osamu Yokosuka, Hiroshi Yatsuhashi, Katsushi Tokunaga, Masashi Mizokami   +23 more
doaj   +1 more source

From the double helix to the personal genomes

Apollo Medicine, 2023
In 1954, the seminal short paper in the Nature from James Watson and Francis Crick proposed the double helix model of deoxyribose nucleic acid. This amateur-looking concept changed the way molecular biology is now perceived. We are now celebrating the 70
Dhavendra Kumar
doaj   +1 more source

Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer

Genome Medicine, 2021
Background Identification of germline variation and somatic mutations is a major issue in human genetics. However, due to the limitations of DNA sequencing technologies and computational algorithms, our understanding of genetic variation and somatic ...
Akihiro Fujimoto, Jing Hao Wong, Yukiko Yoshii, Shintaro Akiyama, Azusa Tanaka, Hitomi Yagi, Daichi Shigemizu, Hidewaki Nakagawa, Masashi Mizokami, Mihoko Shimada   +9 more
doaj   +1 more source

Robustness of Massively Parallel Sequencing Platforms. [PDF]

PLoS ONE, 2015
The improvements in high throughput sequencing technologies (HTS) made clinical sequencing projects such as ClinSeq and Genomics England feasible. Although there are significant improvements in accuracy and reproducibility of HTS based analyses, the ...
Pınar Kavak, Bayram Yüksel, Soner Aksu, M Oguzhan Kulekci, Tunga Güngör, Faraz Hach, S Cenk Şahinalp, Turkish Human Genome Project, Can Alkan, Mahmut Şamil Sağıroğlu   +9 more
doaj   +1 more source

Human Genome Project

The American Journal of Surgery, 1993
The Human Genome Project is an international effort to clone and sequence the entire human genome. This audacious undertaking, estimated to cost 200 million dollars per year and require 15 years to complete, promises to be one of the most revolutionary and captivating scientific endeavors ever conceived by mankind.
M P, Sawicki, G, Samara, M, Hurwitz, E, Passaro   +3 more
openaire   +4 more sources

Genome maps across 26 human populations reveal population-specific patterns of structural variation. [PDF]

, 2019
Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in ...
Cao, Han, Chan, Ting-Fung, Chow, Eugene YC, Chu, Catherine, Chung, Claire YL, Hastie, Alex R, Jin, Nana, Kwok, Pui-Yan, Lam, Ernest T, Leung, Alden KY, Levy-Sakin, Michal, Li, Le, Lin, Chin, Ma, Walfred, McCaffrey, Jennifer, Mostovoy, Yulia, Naguib, Ahmed, Pastor, Steven, Poon, Annie, Rajagopalan, Ramakrishnan, Sibert, Justin, Wang, Wei-Ping, Wong, Karen HY, Xiao, Ming, Yip, Kevin Y, Young, Eleanor   +25 more
core   +2 more sources

The human genome as the common heritage of humanity

Frontiers in Genetics, 2023
While debate on the international regulation of human genomic research remains unsettled, the Universal Declaration on the Human Genome and Human Rights, 1997 qualifies the human genome as “heritage of humankind” in a symbolic sense.
Faith Kabata, Donrich Thaldar, Donrich Thaldar   +2 more
doaj   +1 more source