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Showing 1-20 from 17123 results
Title:
Pathogenic Variants in USH1G /SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.
Authors:
Fritze JS; Institute of Molecular Physiology, Johannes Gutenberg University Mainz, 55128 Mainz, Germany.
Stiehler FF; Institute of Molecular Physiology, Johannes Gutenberg University Mainz, 55128 Mainz, Germany.
Wolfrum U; Institute of Molecular Physiology, Johannes Gutenberg University Mainz, 55128 Mainz, Germany.
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Source:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 18; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 18.
Publication Type:
Journal Article
MeSH Terms:
RNA Splicing Factors*/genetics
RNA Splicing Factors*/metabolism
Spliceosomes*/metabolism
Usher Syndromes*
Humans ; Eye Proteins/metabolism ; Nerve Tissue Proteins/metabolism ; Ribonucleoprotein, U4-U6 Small Nuclear/metabolism ; RNA Precursors/genetics ; RNA Splicing ; Transcription Factors/metabolism ; HEK293 Cells
SCR Disease Name:
Usher Syndrome, Type IG
Academic Journal
Full Text  Link opens in a new window Full TextDetails
Title:
Splicing factor-mediated regulation patterns reveals biological characteristics and aid in predicting prognosis in acute myeloid leukemia.
Authors:
Zhong FM; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.; School of Public Health, Nanchang University, No. 461 BaYi Boulevard, Nanchang, 330006, Jiangxi, China.
Yao FY; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Liu J; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Li MY; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Jiang JY; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Cheng Y; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.; School of Public Health, Nanchang University, No. 461 BaYi Boulevard, Nanchang, 330006, Jiangxi, China.
Xu S; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.; School of Public Health, Nanchang University, No. 461 BaYi Boulevard, Nanchang, 330006, Jiangxi, China.
Li SQ; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Zhang N; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Huang B; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China. .
Wang XZ; Jiangxi Province Key Laboratory of Laboratory Medicine, Jiangxi Provincial Clinical Research Center for Laboratory Medicine, Department of Clinical Laboratory, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China. .; School of Public Health, Nanchang University, No. 461 BaYi Boulevard, Nanchang, 330006, Jiangxi, China. .
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Source:
Journal of translational medicine [J Transl Med] 2023 Jan 07; Vol. 21 (1), pp. 6. Date of Electronic Publication: 2023 Jan 07.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA Splicing*
Leukemia, Myeloid, Acute*/diagnosis
Leukemia, Myeloid, Acute*/genetics
Leukemia, Myeloid, Acute*/pathology
Humans ; RNA Splicing Factors ; Alternative Splicing/genetics ; Prognosis ; Arginine/genetics ; Arginine/metabolism ; Tumor Microenvironment ; Serine-Arginine Splicing Factors/genetics ; Serine-Arginine Splicing Factors/metabolism ; Repressor Proteins/genetics ; Cell Cycle Proteins/genetics
Academic Journal
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Title:
SLU7: A New Hub of Gene Expression Regulation-From Epigenetics to Protein Stability in Health and Disease.
Authors:
Gárate-Rascón M; Program of Hepatology, Center for Applied Medical Research (CIMA), University of Navarra, Avda. Pio XII, n55, 31008 Pamplona, Spain.
Recalde M; Program of Hepatology, Center for Applied Medical Research (CIMA), University of Navarra, Avda. Pio XII, n55, 31008 Pamplona, Spain.
Rojo C; Program of Hepatology, Center for Applied Medical Research (CIMA), University of Navarra, Avda. Pio XII, n55, 31008 Pamplona, Spain.
Fernández-Barrena MG; Program of Hepatology, Center for Applied Medical Research (CIMA), University of Navarra, Avda. Pio XII, n55, 31008 Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain.; National Institute for the Study of Liver and Gastrointestinal Diseases (CIBERehd, Carlos III Health Institute), 28029 Madrid, Spain.
Ávila MA; Program of Hepatology, Center for Applied Medical Research (CIMA), University of Navarra, Avda. Pio XII, n55, 31008 Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain.; National Institute for the Study of Liver and Gastrointestinal Diseases (CIBERehd, Carlos III Health Institute), 28029 Madrid, Spain.
Arechederra M; Program of Hepatology, Center for Applied Medical Research (CIMA), University of Navarra, Avda. Pio XII, n55, 31008 Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain.; National Institute for the Study of Liver and Gastrointestinal Diseases (CIBERehd, Carlos III Health Institute), 28029 Madrid, Spain.
Berasain C; Program of Hepatology, Center for Applied Medical Research (CIMA), University of Navarra, Avda. Pio XII, n55, 31008 Pamplona, Spain.; IdiSNA, Navarra Institute for Health Research, 31008 Pamplona, Spain.; National Institute for the Study of Liver and Gastrointestinal Diseases (CIBERehd, Carlos III Health Institute), 28029 Madrid, Spain.
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Source:
International journal of molecular sciences [Int J Mol Sci] 2022 Nov 02; Vol. 23 (21). Date of Electronic Publication: 2022 Nov 02.
Publication Type:
Journal Article; Review
MeSH Terms:
Ribonucleoproteins, Small Nuclear*/genetics
RNA Splicing*
Humans ; RNA Splicing Factors/genetics ; RNA Splice Sites ; Epigenesis, Genetic ; Protein Stability ; Alternative Splicing
Academic Journal
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Title:
Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing.
Authors:
Lynn N; Department of Biomedical Engineering, the Engineering Faculty, Tel Aviv University, Tel-Aviv, 69978, Israel.
Tuller T; Department of Biomedical Engineering, the Engineering Faculty, Tel Aviv University, Tel-Aviv, 69978, Israel. .
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Source:
NPJ systems biology and applications [NPJ Syst Biol Appl] 2024 Mar 07; Vol. 10 (1), pp. 25. Date of Electronic Publication: 2024 Mar 07.
Publication Type:
Journal Article
MeSH Terms:
RNA Splicing*/genetics
Neoplasms*/genetics
Humans ; Mutation/genetics ; Alternative Splicing/genetics ; RNA, Messenger/genetics ; Computer Simulation
Academic Journal
Full Text  Link opens in a new window Full TextDetails
Title:
SETDB1 promotes progression through upregulation of SF3B4 expression and regulates the immunity in ovarian cancer.
Authors:
Yang H; Department of Obstetrics and Gynecology, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266000, Shandong Province, China.
Sui L; Department of Gynecological Oncology, Qingdao Central Hospital, University of Health and Rehabilitation Sciences, Qingdao, 266000, Shandong, China.
Cai C; Department of Obstetrics and Gynecology, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266000, Shandong Province, China.
Chu H; Department of Obstetrics and Gynecology, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266000, Shandong Province, China.
Diao Y; Department of Obstetrics and Gynecology, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266000, Shandong Province, China. .
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Source:
Journal of ovarian research [J Ovarian Res] 2024 Feb 05; Vol. 17 (1), pp. 34. Date of Electronic Publication: 2024 Feb 05.
Publication Type:
Journal Article
MeSH Terms:
Histone-Lysine N-Methyltransferase*/genetics
Ovarian Neoplasms*/genetics
Ovarian Neoplasms*/pathology
RNA Splicing Factors*/genetics
Female ; Humans ; Cell Line, Tumor ; Cell Proliferation/genetics ; Prognosis ; Tumor Microenvironment ; Up-Regulation
Academic Journal
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Title:
Bulk and single-cell alternative splicing analyses reveal roles of TRA2B in myogenic differentiation.
Authors:
Chen G; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
Chen J; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
Qi L; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
Yin Y; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
Lin Z; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
Wen H; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
Zhang S; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
Xiao C; Human and Animal Physiology, Wageningen University, Wageningen, The Netherlands.
Bello SF; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
Zhang X; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
Nie Q; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
Luo W; College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.; Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, Lingnan Guangdong Laboratory of Modern Agriculture & State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, Guangzhou, Guangdong, China.; State Key Laboratory of Livestock and Poultry Breeding, and Lingnan Guangdong Laboratory of Agriculture, South China Agricultural University, Guangzhou, China.
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Source:
Cell proliferation [Cell Prolif] 2024 Feb; Vol. 57 (2), pp. e13545. Date of Electronic Publication: 2023 Sep 13.
Publication Type:
Journal Article
MeSH Terms:
Alternative Splicing*/genetics
RNA Splicing*
Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Transcriptome ; Muscle Development/genetics ; Gene Expression Profiling
Academic Journal
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Title:
Zrsr2 Is Essential for the Embryonic Development and Splicing of Minor Introns in RNA and Protein Processing Genes in Zebrafish.
Authors:
Weinstein R; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Bishop K; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Broadbridge E; Oncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Yu K; Oncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Carrington B; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Elkahloun A; Microarray Core, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Zhen T; Oncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Pei W; Developmental Genomics Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Burgess SM; Developmental Genomics Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Liu P; Oncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Bresciani E; Oncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Sood R; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Oncogenesis and Development Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
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International journal of molecular sciences [Int J Mol Sci] 2022 Sep 14; Vol. 23 (18). Date of Electronic Publication: 2022 Sep 14.
Publication Type:
Journal Article
MeSH Terms:
Ribonucleoproteins*/genetics
Ribonucleoproteins*/metabolism
RNA Splicing*/genetics
Zebrafish*/genetics
Zebrafish*/metabolism
Animals ; Mice ; Embryonic Development ; Introns/genetics ; RNA Splice Sites ; RNA Splicing Factors/genetics ; Spliceosomes/metabolism
Academic Journal
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Title:
Cancer-associated mutations in SF3B1 disrupt the interaction between SF3B1 and DDX42.
Authors:
Zhao B; China-Japan Union Hospital of Jilin University, Jilin University, Changchun, Jilin 130033, China.; School of Life Sciences, Jilin University, Changchun, Jilin 130012, China.
Li Z; School of Life Sciences, Jilin University, Changchun, Jilin 130012, China.
Qian R; China-Japan Union Hospital of Jilin University, Jilin University, Changchun, Jilin 130033, China.
Liu G; China-Japan Union Hospital of Jilin University, Jilin University, Changchun, Jilin 130033, China.
Fan M; China-Japan Union Hospital of Jilin University, Jilin University, Changchun, Jilin 130033, China.; School of Life Sciences, Jilin University, Changchun, Jilin 130012, China.
Liang Z; China-Japan Union Hospital of Jilin University, Jilin University, Changchun, Jilin 130033, China.; School of Life Sciences, Jilin University, Changchun, Jilin 130012, China.
Hu X; China-Japan Union Hospital of Jilin University, Jilin University, Changchun, Jilin 130033, China.
Wan Y; China-Japan Union Hospital of Jilin University, Jilin University, Changchun, Jilin 130033, China.
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Source:
Journal of biochemistry [J Biochem] 2022 Jul 25; Vol. 172 (2), pp. 117-126.
Publication Type:
Journal Article
MeSH Terms:
DEAD-box RNA Helicases*/genetics
DEAD-box RNA Helicases*/metabolism
Neoplasms*/genetics
Phosphoproteins*/genetics
Phosphoproteins*/metabolism
RNA Splicing Factors*/genetics
RNA Splicing Factors*/metabolism
Ribonucleoprotein, U2 Small Nuclear*/genetics
Ribonucleoprotein, U2 Small Nuclear*/metabolism
Adenosine Triphosphate ; Humans ; Mutation ; RNA Splicing
Academic Journal
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Title:
A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities.
Authors:
Cheng C; Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Yang F; Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Zhao S; Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China. .
Chen X; Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China. .
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BMC medical genomics [BMC Med Genomics] 2023 Dec 18; Vol. 16 (1), pp. 331. Date of Electronic Publication: 2023 Dec 18.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA Splicing*
Intellectual Disability*/genetics
Pregnancy ; Female ; Humans ; Mutation ; Phenotype ; Introns ; Clathrin Heavy Chains/genetics
Academic Journal
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Title:
Identification of MYC intron 2 regions that modulate expression.
Authors:
Tompkins VS; Roy J. Carver Department of Biochemistry, Biophysics, and Molecular Biology, Iowa State University, Ames, Iowa, United States of America.
Xue Z; Roy J. Carver Department of Biochemistry, Biophysics, and Molecular Biology, Iowa State University, Ames, Iowa, United States of America.
Peterson JM; Roy J. Carver Department of Biochemistry, Biophysics, and Molecular Biology, Iowa State University, Ames, Iowa, United States of America.
Rouse WB; Roy J. Carver Department of Biochemistry, Biophysics, and Molecular Biology, Iowa State University, Ames, Iowa, United States of America.
O'Leary CA; Roy J. Carver Department of Biochemistry, Biophysics, and Molecular Biology, Iowa State University, Ames, Iowa, United States of America.
Moss WN; Roy J. Carver Department of Biochemistry, Biophysics, and Molecular Biology, Iowa State University, Ames, Iowa, United States of America.
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PloS one [PLoS One] 2024 Jan 18; Vol. 19 (1), pp. e0296889. Date of Electronic Publication: 2024 Jan 18 (Print Publication: 2024).
Publication Type:
Journal Article
MeSH Terms:
RNA Precursors*/genetics
RNA Splicing*
Introns/genetics ; Alternative Splicing ; Mutation
Academic Journal
Full Text  Link opens in a new window Full TextDetails
Title:
FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm.
Authors:
Jung S; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.
Shah S; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.
Han G; Molecular Microbiology and Immunology, Brown University, Providence, Rhode Island, United States of America.
Richter JD; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.
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PLoS biology [PLoS Biol] 2023 Dec 04; Vol. 21 (12), pp. e3002417. Date of Electronic Publication: 2023 Dec 04 (Print Publication: 2023).
Publication Type:
Journal Article
MeSH Terms:
Fragile X Mental Retardation Protein*/genetics
RNA Splicing*/genetics
Animals ; Humans ; Mice ; Cytoplasm/metabolism ; Heterogeneous-Nuclear Ribonucleoproteins/genetics ; Heterogeneous-Nuclear Ribonucleoproteins/metabolism ; Polypyrimidine Tract-Binding Protein/genetics ; Polypyrimidine Tract-Binding Protein/metabolism ; Protein Isoforms/metabolism ; RNA/metabolism ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism
Academic Journal
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Title:
Prediction of alternative pre-mRNA splicing outcomes.
Authors:
Najjar R; Division of Rheumatology, Department of Medicine, University of Washington, 750 Republican Street, Seattle, WA, 98109, USA. .
Mustelin T; Division of Rheumatology, Department of Medicine, University of Washington, 750 Republican Street, Seattle, WA, 98109, USA.
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Source:
Scientific reports [Sci Rep] 2023 Nov 15; Vol. 13 (1), pp. 20000. Date of Electronic Publication: 2023 Nov 15.
Publication Type:
Journal Article
MeSH Terms:
RNA Precursors*/genetics
RNA Precursors*/metabolism
RNA Splicing*/genetics
Humans ; RNA, Messenger/genetics ; Alternative Splicing ; Protein Isoforms/metabolism
Academic Journal
Full Text  Link opens in a new window Full TextDetails
Title:
Multiple Phosphorylations of SR Protein SRSF3 and Its Binding to m A Reader YTHDC1 in Human Cells.
Authors:
Tatsuno T; Medical Research Institute, Kanazawa Medical University, Kahoku 920-0293, Japan.
Ishigaki Y; Medical Research Institute, Kanazawa Medical University, Kahoku 920-0293, Japan.
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Source:
Cells [Cells] 2022 Apr 26; Vol. 11 (9). Date of Electronic Publication: 2022 Apr 26.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA Splicing*
Serine*/metabolism
Humans ; Nerve Tissue Proteins/metabolism ; Phosphorylation ; RNA Splicing Factors/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Serine-Arginine Splicing Factors/genetics ; Serine-Arginine Splicing Factors/metabolism
Academic Journal
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Title:
Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity.
Authors:
Obuća M; Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.; Faculty of Science, Charles University in Prague, Prague, Czech Republic.
Cvačková Z; Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.
Kubovčiak J; Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.
Kolář M; Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.
Staněk D; Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.
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PloS one [PLoS One] 2022 Apr 06; Vol. 17 (4), pp. e0265742. Date of Electronic Publication: 2022 Apr 06 (Print Publication: 2022).
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DEAD-box RNA Helicases*/genetics
RNA Splicing Factors*/genetics
Retinitis Pigmentosa*/genetics
Humans ; Mutation ; RNA Splice Sites ; RNA Splicing ; Spliceosomes/metabolism
Academic Journal
Full Text  Link opens in a new window Full TextDetails
Title:
Investigating the Molecular Mechanism of H3B-8800: A Splicing Modulator Inducing Preferential Lethality in Spliceosome-Mutant Cancers.
Authors:
Spinello A; National Research Council of Italy, Institute of Materials Foundry (CNR-IOM) c/o SISSA, Via Bonomea 265, 34136 Trieste, Italy.
Borišek J; National Institute of Chemistry, Theory Department, Hajdrihova 19, 1000 Ljubljana, Slovenia.
Malcovati L; Department of Hematology, IRCCS S. Matteo Hospital Foundation, 27100 Pavia, Italy.; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Magistrato A; National Research Council of Italy, Institute of Materials Foundry (CNR-IOM) c/o SISSA, Via Bonomea 265, 34136 Trieste, Italy.
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Source:
International journal of molecular sciences [Int J Mol Sci] 2021 Oct 18; Vol. 22 (20). Date of Electronic Publication: 2021 Oct 18.
Publication Type:
Journal Article
MeSH Terms:
Mutation*
RNA Splicing*
Neoplasms/*pathology
Phosphoproteins/*chemistry
Phosphoproteins/*metabolism
Piperazines/*metabolism
Pyridines/*metabolism
RNA Splicing Factors/*chemistry
RNA Splicing Factors/*metabolism
Humans ; Molecular Dynamics Simulation ; Neoplasms/genetics ; Neoplasms/metabolism ; Phenotype ; Phosphoproteins/genetics ; Piperazines/chemistry ; Protein Conformation ; Pyridines/chemistry ; RNA Splicing Factors/genetics
Academic Journal
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Title:
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing.
Authors:
Kurosawa R; Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Yoshida-Konoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan. .
Iida K; Faculty of Science and Engineering, Kindai University, 3-4-1 Kowakae, Higashi-osaka, Osaka, 577-8502, Japan.; Medical Research Support Center, Graduate School of Medicine, Kyoto University, Yoshida- Konoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan.
Ajiro M; Division of Cancer RNA Research, National Cancer Center Research Institute, Tokyo, 104- 0045, Japan.; Department of Drug Discovery Medicine, Graduate School of Medicine, Kyoto University, Yoshida Konoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan.
Awaya T; Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Yoshida-Konoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan.; Laboratory of Tumor Microenvironment and Immunity, Graduate School of Medicine, Kyoto University, Yoshida-Konoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan.
Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan.
Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan.
Hagiwara M; Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Yoshida-Konoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan. .
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BMC genomics [BMC Genomics] 2023 Oct 10; Vol. 24 (1), pp. 601. Date of Electronic Publication: 2023 Oct 10.
Publication Type:
Journal Article
MeSH Terms:
RNA Splicing*
Humans ; Introns ; Virulence ; Mutation
Academic Journal
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Title:
SRSF2 is required for mRNA splicing during spermatogenesis.
Authors:
Lei WL; Guangdong and Shenzhen Key Laboratory of Reproductive Medicine and Genetics, The Center of Reproductive Medicine, Peking University Shenzhen Hospital, 1120 Lianhua Rd, Futian District, Shenzhen, 518000, China.; CAS Key Laboratory of Quantitative Engineering Biology, Shenzhen Institute of Synthetic Biology, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China.; Department of Urology & Andrology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, #3 Qingchun East Road, Shangcheng District, Hangzhou, 310016, China.
Du Z; School of Artificial Intelligence, University of Chinese Academy of Sciences, Beijing, 100049, China.
Meng TG; Fertility Preservation Lab, Guangdong-Hongkong Metabolism & Reproduction Joint Laboratory, Reproductive Medicine Center, Guangdong Second Provincial General Hospital, #466 Xin-Gang-Zhong-Lu, Haizhu District, Guangzhou, 510317, China.
Su R; Fertility Preservation Lab, Guangdong-Hongkong Metabolism & Reproduction Joint Laboratory, Reproductive Medicine Center, Guangdong Second Provincial General Hospital, #466 Xin-Gang-Zhong-Lu, Haizhu District, Guangzhou, 510317, China.
Li YY; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, #1 Beichen West Road, Chaoyang District, Beijing, 100101, China.
Liu W; Department of Obstetrics and Gynecology, Center for Reproductive Medicine/Department of Fetal Medicine and Prenatal Diagnosis/BioResource Research Center, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, China.
Sun SM; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, #1 Beichen West Road, Chaoyang District, Beijing, 100101, China.
Liu MY; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, #1 Beichen West Road, Chaoyang District, Beijing, 100101, China.
Hou Y; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, #1 Beichen West Road, Chaoyang District, Beijing, 100101, China.
Zhang CH; Guangdong and Shenzhen Key Laboratory of Reproductive Medicine and Genetics, The Center of Reproductive Medicine, Peking University Shenzhen Hospital, 1120 Lianhua Rd, Futian District, Shenzhen, 518000, China.
Gui Y; Institute of Urology, Peking University Shenzhen Hospital, Shenzhen PKU-HKUST Medical Center, Shenzhen, 518036, China.
Schatten H; Department of Veterinary Pathobiology, University of Missouri, Columbia, MO, 65211, USA.
Han Z; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, #1 Beichen West Road, Chaoyang District, Beijing, 100101, China.
Liu C; CAS Key Laboratory of Quantitative Engineering Biology, Shenzhen Institute of Synthetic Biology, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, China.
Sun F; Department of Urology & Andrology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, #3 Qingchun East Road, Shangcheng District, Hangzhou, 310016, China. .
Wang ZB; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, #1 Beichen West Road, Chaoyang District, Beijing, 100101, China. .
Qian WP; Guangdong and Shenzhen Key Laboratory of Reproductive Medicine and Genetics, The Center of Reproductive Medicine, Peking University Shenzhen Hospital, 1120 Lianhua Rd, Futian District, Shenzhen, 518000, China. .
Sun QY; Fertility Preservation Lab, Guangdong-Hongkong Metabolism & Reproduction Joint Laboratory, Reproductive Medicine Center, Guangdong Second Provincial General Hospital, #466 Xin-Gang-Zhong-Lu, Haizhu District, Guangzhou, 510317, China. .
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Source:
BMC biology [BMC Biol] 2023 Oct 23; Vol. 21 (1), pp. 231. Date of Electronic Publication: 2023 Oct 23.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Spermatogenesis*/genetics
RNA Splicing*
Male ; Humans ; RNA-Binding Proteins/genetics ; Alternative Splicing ; Meiosis/genetics ; RNA, Messenger
Academic Journal
Full Text  Link opens in a new window Full TextDetails
Title:
Expression and splicing mediate distinct biological signals.
Authors:
Dam SH; Section for Bioinformatics, Department of Health Technology, Technical University of Denmark, Kgs. Lyngby, Denmark.
Olsen LR; Section for Bioinformatics, Department of Health Technology, Technical University of Denmark, Kgs. Lyngby, Denmark.
Vitting-Seerup K; Section for Bioinformatics, Department of Health Technology, Technical University of Denmark, Kgs. Lyngby, Denmark. .
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Source:
BMC biology [BMC Biol] 2023 Oct 20; Vol. 21 (1), pp. 220. Date of Electronic Publication: 2023 Oct 20.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Expression Profiling*/methods
RNA Splicing*
Humans ; Alternative Splicing ; RNA-Seq ; Sequence Analysis, RNA/methods ; Protein Isoforms/genetics
Academic Journal
Full Text  Link opens in a new window Full TextDetails
Title:
The Interplay Between Splicing of Two Exon Combinations Differentially Affects Membrane Targeting and Function of Human Ca V 2.2.
Authors:
Dahimene S; Department of Neuroscience, Physiology and Pharmacology, University College London, London WC1E 6BT, UK.
Page KM; Department of Neuroscience, Physiology and Pharmacology, University College London, London WC1E 6BT, UK.
Nieto-Rostro M; Department of Neuroscience, Physiology and Pharmacology, University College London, London WC1E 6BT, UK.
Pratt WS; Department of Neuroscience, Physiology and Pharmacology, University College London, London WC1E 6BT, UK.
Dolphin AC; Department of Neuroscience, Physiology and Pharmacology, University College London, London WC1E 6BT, UK.
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Source:
Function (Oxford, England) [Function (Oxf)] 2023 Oct 19; Vol. 5 (1), pp. zqad060. Date of Electronic Publication: 2023 Oct 19 (Print Publication: 2024).
Publication Type:
Journal Article
MeSH Terms:
Neurons*/metabolism
RNA Splicing*
Humans ; Calcium Channels, N-Type/genetics ; Protein Isoforms/genetics ; Exons/genetics
Academic Journal
Full Text  Link opens in a new windowDetails
Title:
Thirty Years with ERH: An mRNA Splicing and Mitosis Factor Only or Rather a Novel Genome Integrity Protector?
Authors:
Kozlowski P; Department of Molecular Biology, Institute of Biochemistry, Faculty of Biology, University of Warsaw, Miecznikowa 1, 02-096 Warsaw, Poland.
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Source:
Cells [Cells] 2023 Oct 13; Vol. 12 (20). Date of Electronic Publication: 2023 Oct 13.
Publication Type:
Journal Article; Review
MeSH Terms:
Transcription Factors*/genetics
Cell Cycle Proteins*/genetics
RNA Splicing*
Animals ; Humans ; Caenorhabditis elegans/genetics ; Caenorhabditis elegans/metabolism ; Drosophila melanogaster/genetics ; Heterochromatin/metabolism ; MicroRNAs/metabolism ; Mitosis/genetics ; RNA-Binding Proteins/metabolism ; Schizosaccharomyces/genetics ; Schizosaccharomyces/metabolism
Academic Journal
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Showing 1-20 from 17123 results

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