Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing

Autor: Huilin Xie, Xin Shi, Ruilin Zhang, Tieliu Shi, Qihua Fu, Kai Bai, Kun Sun, Yanan Lu, Sun Chen, Yu Yu, Li Zhang

Publikováno v: Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 381-392 (2020)

Graphical abstract
Pulmonary atresia (PA) is a rare congenital heart defect (CHD) with complex manifestations and a high mortality rate. Since the genetic determinants in the pathogenesis of PA remain elusive, a thorough identification of the ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4944a71ab015df137b1cb69ce165da3
https://doi.org/10.1016/j.csbj.2020.01.011

SARS-CoV-2 infections and COVID-19 mortalities strongly correlate with ACE1 I/D genotype

Autor: Kunitada Shimotohno, Nao Nishida, Takashi Gojobori, Naoki Yamamoto, Yasuo Ariumi, Rain Yamamoto, Masashi Mizokami, Georg Bauer

Publikováno v: Gene

Highlights • COVID-19 infection is characterized by its prominent effect on specific ethnic group. • SARS-CoV-2 cases/mortality were negatively associated with ACE1 II genotype. • The ACE1 II genotype could be a predictive marker of SARS-CoV-2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f67a6c8a92dda5424dbb4b33a119073
http://europepmc.org/articles/PMC7833925

Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss.

Autor: Al Mutery A; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.; Human Genetics & Stem Cells Research Group, Research Institute of Sciences & Engineering, University of Sharjah, Sharjah, United Arab Emirates.; Molecular Genetics and Stem Cell Research Laboratory, University of Sharjah, Sharjah, United Arab Emirates., Kamal Eldin Mohamed W; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.; Department de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, Barcelona, Spain., Mahfood M; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates., Chouchen J; Molecular Genetics and Stem Cell Research Laboratory, University of Sharjah, Sharjah, United Arab Emirates., Tlili A; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.; Human Genetics & Stem Cells Research Group, Research Institute of Sciences & Engineering, University of Sharjah, Sharjah, United Arab Emirates.; Molecular Genetics and Stem Cell Research Laboratory, University of Sharjah, Sharjah, United Arab Emirates.

Publikováno v: Saudi journal of biological sciences [Saudi J Biol Sci] 2023 Feb; Vol. 30 (2), pp. 103520. Date of Electronic Publication: 2022 Dec 01.

Structural bioinformatics enhances the interpretation of somatic mutations in KDM6A found in human cancers.

Autor: Chi YI; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States., Stodola TJ; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, United States., De Assuncao TM; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States., Leverence EN; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, United States., Smith BC; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States., Volkman BF; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States., Mathison AJ; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States., Lomberk G; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, WI, United States., Zimmermann MT; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, United States., Urrutia R; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, United States.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, United States.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, United States.

Publikováno v: Computational and structural biotechnology journal [Comput Struct Biotechnol J] 2022 Apr 28; Vol. 20, pp. 2200-2211. Date of Electronic Publication: 2022 Apr 28 (Print Publication: 2022).

Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature.

Autor: Koshy A; Departments of Gastroenterology, VPS Lakeshore Hospital, Kochi, India., Mukkada RJ; Departments of Gastroenterology, VPS Lakeshore Hospital, Kochi, India., Chettupuzha AP; Departments of Gastroenterology, VPS Lakeshore Hospital, Kochi, India., Francis JV; Departments of Gastroenterology, VPS Lakeshore Hospital, Kochi, India., Kandathil JC; Radiology, VPS Lakeshore Hospital, Kochi, India., Mahadevan P; Pathology, VPS Lakeshore Hospital, Kochi, India.

Publikováno v: Journal of clinical and experimental hepatology [J Clin Exp Hepatol] 2020 Mar-Apr; Vol. 10 (2), pp. 163-169. Date of Electronic Publication: 2019 Apr 29.