المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/journal_contribution/Total_number_of_exons_with_PSI_covered_across_tissues_/25401042

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.s005

المؤلفون: Xin Ji, Xuening Hou, Xin Guo, Yifeng Sun, Futian Ma, Jihong Hao

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Wiskott–Aldrich syndrome, Microthrombocytopenia, Novel mutation, Splicing effect, In vitro models, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/442ecb69184e4cc5a6a1ce3c82909c25

المؤلفون: Jie Wang, Xiaohua Wang, Yueqi Jia, Xiangnan Li, Guohui Liu, Rula Sa, Haiquan Yu

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)

مصطلحات موضوعية: aberrant splicing effect, Ellis–van Creveld syndrome, EVC, skeletal dysplasia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/3b61b9b767b641e0b2cce42fd04b32ba

المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/figure/Additional_properties_of_exons_found_in_MANE_isoforms_/25401036

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.s003

المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/figure/Supplemental_characterizations_of_QTLs_/25401030

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.s001

المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/figure/Tissue_specificity_of_GWAS-_QTL_colocalization_/25401033

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.s002

المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/figure/Properties_of_genetically_regulated_exon_splicing_as_revealed_by_QTL_analysis_/25401045

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.g001

المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/figure/RMSD_between_predicted_protein_structures_/25401039

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.s004

المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/figure/Comparisons_of_encoded_protein_domain_features_among_variably_and_constitutively_spliced_exons_/25401051

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.g003

المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/figure/_QTL-GWAS_colocalizations_and_shared_causal_variants_with_eQTLs_/25401048

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.g002

المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/figure/Distribution_of_Euclidean_distances_between_predicted_alignment_error_PAE_matrices_among_GWAS_colocalized_QTLs_/25401054

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.g004

المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/figure/Predicted_structural_changes_associated_with_GWAS-colocalized_QTLs_/25401057

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.g005

المؤلفون: Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

مصطلحات موضوعية: Biochemistry, Genetics, Molecular Biology, Evolutionary Biology, Cancer, Plant Biology, Biological Sciences not elsewhere classified, selective effects based, potential new use, interpreting genetic effects, genetically controlled splicing, protein structure associated, splicing effect size, protein structure, effect size, quantifying splicing, utilize alphafold2, similar degree, quantitative phenotype, predict changes, interpretable metric, gwas signals, find evidence, exon symmetry, exon inclusion

Relation: https://figshare.com/articles/dataset/Description_of_features_used_to_describe_protein_domains_of_interest_/25401060

الاتاحة: https://doi.org/10.1371/journal.pone.0291960.t001

المؤلفون: AMATO, FELICE, Cardillo, Giuseppe, Liguori, Renato, Scorza, Manuela, COMEGNA, Marika, Elce, Ausilia, Giordano, Sonia, Lucaccioni, Laura, Lugli, Licia, Cardile, Sabrina, Romano, Claudio, Pezzella, Vincenza, CASTALDO, GIUSEPPE, BERNI CANANI, ROBERTO

المساهمون: Amato, Felice, Cardillo, Giuseppe, Liguori, Renato, Scorza, Manuela, Comegna, Marika, Elce, Ausilia, Giordano, Sonia, Lucaccioni, Laura, Lugli, Licia, Cardile, Sabrina, Romano, Claudio, Pezzella, Vincenza, Castaldo, Giuseppe, BERNI CANANI, Roberto

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Gastroenterology, chloride losing diarrhea, diarrhea anion exchanger, mutations, SLC26A3, splicing effect

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000404960900017; volume:65; issue:1; firstpage:26; lastpage:30; numberofpages:5; journal:JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION; http://hdl.handle.net/11588/648629; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84988640472; http://journals.lww.com/jpgn

الاتاحة: http://hdl.handle.net/11588/648629
https://doi.org/10.1097/MPG.0000000000001418
http://journals.lww.com/jpgn

المؤلفون: Sabrina Cardile, Vincenza Pezzella, Licia Lugli, Giuseppe Castaldo, Ausilia Elce, Roberto Berni Canani, Sonia Giordano, Manuela Scorza, Marika Comegna, Claudio Romano, Renato Liguori, Giuseppe Cardillo, Laura Lucaccioni, Felice Amato

المساهمون: Amato, Felice, Cardillo, Giuseppe, Liguori, Renato, Scorza, Manuela, Comegna, Marika, Elce, Ausilia, Giordano, Sonia, Lucaccioni, Laura, Lugli, Licia, Cardile, Sabrina, Romano, Claudio, Pezzella, Vincenza, Castaldo, Giuseppe, BERNI CANANI, Roberto

المصدر: Journal of Pediatric Gastroenterology & Nutrition. 65:26-30

مصطلحات موضوعية: Diarrhea, Genetic Markers, 0301 basic medicine, Genotype, Genotyping Techniques, Congenital chloride diarrhea, In silico, SLC26A3, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, Chloride-Bicarbonate Antiporters, Genetic Testing, Gene, Genetics, biology, Gastroenterology, medicine.disease, 030104 developmental biology, Sulfate Transporters, Case-Control Studies, Mutation, chloride losing diarrhea, diarrhea anion exchanger, genotype, member 3 of solute carrier family 26, mutations, splicing effect, Metabolism, Inborn Errors, Pediatrics, Perinatology and Child Health, RNA splicing, biology.protein, Gastroenterology, chloride losing diarrhea, diarrhea anion exchanger, mutations, SLC26A3, splicing effect, 030211 gastroenterology & hepatology, Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bea40e32b5d27c56c251a6a505656c3
https://doi.org/10.1097/mpg.0000000000001418