Results 111 to 120 of about 3,932,181 (346)

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

BMC Bioinformatics, 2022
Background Despite numerous molecular and computational advances, roughly half of patients with a rare disease remain undiagnosed after exome or genome sequencing.
Michael J. Cormier, Brent S. Pedersen, Pinar Bayrak-Toydemir, Aaron R. Quinlan   +3 more
doaj   +1 more source

A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements [PDF]

, 2010
Background: polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of ...
Churbanov, Alexander, Hicks, Chindo, Churbanov Alexander, Chindo Hicks, Vorechovsky, Igor, Vořechovský Igor, Hicks Chindo, Igor Vořechovský, Alexander Churbanov   +8 more
core   +1 more source

Alternative splicing and genomic stability [PDF]

Physical Biology, 2004
6 ...
openaire   +3 more sources

Erythropoietin modulates hepatic inflammation, glucose homeostasis, and soluble epoxide hydrolase and epoxides in high‐fat diet‐induced obese mice

FEBS Open Bio, EarlyView.
Erythropoietin administration suppresses hepatic soluble epoxide hydrolase (sEH) expression, leading to increased CYP‐derived epoxides. This is associated with a shift in hepatic macrophage polarization characterized by reduced M1 markers and increased M2 markers, along with reduced hepatic inflammation, suppressed hepatic lipogenesis, and attenuated ...
Takeshi Goda, Satoru Sugimoto, Chiharu Cho, Madoka Konishi, Nozomi Inoue, Satoshi Miyagaki, Yasuhiro Kawabe, Takuro Okamura, Masahide Hamaguchi, Hisakazu Nakajima, Michiaki Fukui, Masakazu Shinohara, Tomoko Iehara   +12 more
wiley   +1 more source

Tetracycline aptamer-controlled regulation of pre-mRNA splicing in yeast

, 2007
Splicing of pre-mRNA is a critical step in mRNA maturation and disturbances cause several genetic disorders. We apply the synthetic tetracycline (tc)-binding riboswitch to establish a gene expression system for conditional tc-dependent control of pre ...
Weigand, Julia E., Suess, Beatrix, Weigand, Julia, Süß, Beatrix   +3 more
core   +1 more source

The Expanding Landscape of Alternative Splicing Variation in Human Populations

American Journal of Human Genetics, 2018
Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease.
Eddie Park, Zhicheng Pan, Zijun Zhang, Lan Lin, Yi Xing   +4 more
semanticscholar   +1 more source

Exon 7 splicing of ERα predicts poor prognosis and increases phenotypic heterogeneity in luminal a subtype breast cancer

FEBS Open Bio, EarlyView.
ERα splice variant ERα∆7 lacks the C‐terminus, and its expression may change phenotypes of breast cancers. Our results showed that ERα∆7 is found in the luminal A subtype, and elevated ERα∆7 levels are linked to improved cell survival with lower proliferation and migration.
Long Wai Tsui, Taobo Hu, Thomson Christian Husein, Wai Hei Shek, Bingrong Chen, Depeng Wang, Shu Wang, Weichuan Yu, Xiaodan Fan, Mengping Long, Toyotaka Ishibashi   +10 more
wiley   +1 more source

Analysis of Differential Alternative Splicing in Largemouth Bass After High Temperature Exposure

Animals
Temperature is one of the critical factors affecting the physiological functions of fish. With ongoing global warming, changes in water temperature have a profound impact on fish species.
Xianxian Zhao, Yizhou Wang, Zhenlu Wang, Tianma Luo, Jun Huang, Jian Shao   +5 more
doaj   +1 more source

Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56 419 completely sequenced and manually annotated full-length cDNAs

, 2006
We report the first genome-wide identification and characterization of alternative splicing in human gene transcripts based on analysis of the full-length cDNAs.
Go, M., Nakao, M., Thierry-Mieg, J., Imanishi, T., Otsuki, T., Isogai, T., Takeda, J-I, Hata, H., Koyanagi, K.O., Gojobori, T., Suzuki, Y., Nomura, N., Yura, K., Shionyu, M., Jin, L., Motono, C., Kuryshev, V., Barrero, R.A., Wiemann, S., Nagai, K., Thierry-Mieg, D., Sugano, S.   +21 more
core  

Comparative analysis indicates that alternative splicing in plants has a limited role in functional expansion of the proteome

, 2009
Background Alternative splicing (AS) is a widespread phenomenon in higher eukaryotes but the extent to which it leads to functional protein isoforms and to proteome expansion at large is still a matter of debate.
Stiekema, W., Willem J Stiekema, Severing, E.I., Roeland CHJ van Ham, Ham, R.C.H.J., van, van Dijk, A.D.J., van Ham Roeland CHJ, Dijk, A.D.J., van, van Dijk Aalt DJ, van Ham, R.C.H.J., Severing Edouard I, Edouard I Severing, Aalt DJ van Dijk, Stiekema Willem J   +13 more
core   +1 more source