المؤلفون: McMahon, Moira, Rahdar, Meghdad, Mukhopadhyay, Swagatam, Bui, Huynh-Hoa, Hart, Christopher, Damle, Sagar, Courtney, Margo, Baughn, Michael, Cleveland, Don, Bennett, C

مصطلحات موضوعية: ASO, CRISPR-Cas, GOLGA8, Golgi, MT: Oligonucleotides: Therapies and Applications, antisense oligonucleotide, gene activation, gene knockdown, gene splicing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5gd42690

المؤلفون: Wanjun Feng, Yanyan Cao, Ruolin Ren, Xiaohui Yang, Chunyan Cao, Hongwei Jiang, Ganqin Du

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: limb-girdle muscular dystrophy type 2A, CAPN3, progressive muscle weakness and wasting, gene splicing, autosomal recessive disorder, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1410727/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/45100f3e2cd3440fae425f954f405519

المؤلفون: Yanchi Wang, Wenbin Niu, Hao Shi, Xiao Bao, Yidong Liu, Manman Lu, Yingpu Sun

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: disheveled, EGL-10, and pleckstrin domain-containing protein 5, focal epilepsy, gene variation, mini-gene splicing assay, mTORC1 pathway, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1414259/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/529beb72f7bf4f63b1bcc7a654409224

المؤلفون: Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao, Jian-Min Chen

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-23 (2024)

مصطلحات موضوعية: Chronic pancreatitis, Full-length gene splicing assay (FLGSA), Precision medicine in genetics, Pre-mRNA splicing, Single-nucleotide variants (SNVs), SpliceAI, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/d02d19b436f74bb4b284a9c0563849d2

المؤلفون: Othman Al-Dossary, Agnelo Furtado, Ardashir KharabianMasouleh, Bader Alsubaie, Ibrahim Al-Mssallem, Robert J. Henry

المصدر: Plant Methods, Vol 19, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: Jojoba, Transcriptome, Iso-Seq, Isoforms, Simmondsia chinensis, Gene splicing, Plant culture, SB1-1110, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1746-4811

URL الوصول: https://doaj.org/article/b73a1b66ba8b455283b63756ae36f605

المؤلفون: Sanders, Stephan J, Schwartz, Grace B, Farh, Kyle Kai-How

المصدر: Genome Medicine. 12(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Brain Disorders, Neurosciences, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Humans, Neurodevelopmental Disorders, RNA Splicing, Gene splicing, Isoform, SpliceAI, Autism spectrum disorder, Developmental delay, Clinical exome sequencing, Cryptic splice site, Canonical splice site, Polypyrimidine tract, Antisense oligonucleotide, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0s11z78z
https://escholarship.org/content/qt0s11z78z/qt0s11z78z.pdf

المؤلفون: Ge Wang, Yanli Wang, Chao Gao, Wanqin Xie

مصطلحات موضوعية: Molecular Biology, Neuroscience, Structural Biology, Central Nervous System, Molecular Evolution, Molecular Medicine, global developmental delay, endoplasmic reticulum-membrane protein complex, synonymous mutation, gene splicing, genetic diagnosis

Relation: https://figshare.com/articles/presentation/Presentation_1_Novel_compound_heterozygous_variants_in_EMC1_associated_with_global_developmental_delay_a_lesson_from_a_non-silent_synonymous_exonic_mutation_PPTX/22715755

الاتاحة: https://doi.org/10.3389/fnmol.2023.1153156.s001
https://figshare.com/articles/presentation/Presentation_1_Novel_compound_heterozygous_variants_in_EMC1_associated_with_global_developmental_delay_a_lesson_from_a_non-silent_synonymous_exonic_mutation_PPTX/22715755

المؤلفون: Ge Wang, Yanli Wang, Chao Gao, Wanqin Xie

المصدر: Frontiers in Molecular Neuroscience, Vol 16 (2023)

مصطلحات موضوعية: global developmental delay, endoplasmic reticulum-membrane protein complex, synonymous mutation, gene splicing, genetic diagnosis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2023.1153156/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/590d717d644a45e5bd6d40bc8eecd81a

المؤلفون: Stephan J. Sanders, Grace B. Schwartz, Kyle Kai-How Farh

المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: Gene splicing, Isoform, SpliceAI, Autism spectrum disorder, Developmental delay, Clinical exome sequencing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-020-00737-2; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/aea0f1cee9f344ddaf5dc445e76332d3

المؤلفون: Fraga, Keith Jeffrey

مصطلحات موضوعية: Bioinformatics, Information technology, Computational chemistry, databases, deep neural networks, gene splicing, machine learning, NMR, NMR chemical shifts

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/199129x7

المؤلفون: Jin-Huan Lin, Hao Wu, Wen-Bin Zou, Emmanuelle Masson, Yann Fichou, Gerald Le Gac, David N. Cooper, Claude Férec, Zhuan Liao, Jian-Min Chen

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: aberrant transcript, full-length gene splicing assay, genetic variant, minigene splicing assay, splice site, SpliceAI, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.701652/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/920a9cae8edb476b95ec85d518580099

المؤلفون: Hairui Sun, Lu Han, Xiaoshan Zhang, Xiaoyan Hao, Xiaoxue Zhou, Ruiqing Pan, Hongjia Zhang, Yihua He

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: congenital heart disease, hypoplastic left heart syndrome, NONO (p54nrb), mini-gene splicing assay, intronic variant, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.593688/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d1cb85431c714f5c8f80218629a71b5a

المؤلفون: Öktem, Mert

المساهمون: Mastrobattista, E., Caiazzo, M., Jong, O.G. de

مصطلحات موضوعية: CRISPR/Cas, cell-penetrating peptide, genetic diseases, gene editing, Cas9 ribonucleoprotein, amphipathic peptide, gene correction, fatty acids, gene splicing

وصف الملف: text/plain

Relation: https://dspace.library.uu.nl/handle/1874/455370

الاتاحة: https://dspace.library.uu.nl/handle/1874/455370

المؤلفون: Frlin, Marta

المساهمون: Leljak-Levanić, Dunja, Jagić, Mateja

مصطلحات موضوعية: MATH-BTB, BPM2, alternativno prekrajanje gena, promotorski motivi, alternative gene splicing, promoter motifs, PRIRODNE ZNANOSTI. Biologija, NATURAL SCIENCES. Biology

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/Hrvatska zaklada za znanost/Research Projects/IP-2022-10-7874/HR/Alternativno prekrajanje gena BPM2 kao mehanizam uspostave funkcionalne raznolikosti porodice proteina MATH-BTB u uročnjaku Arabidopsis thaliana/SpliceFun; https://zir.nsk.hr/islandora/object/pmf:13329; https://urn.nsk.hr/urn:nbn:hr:217:483467; https://repozitorij.unizg.hr/islandora/object/pmf:13329; https://repozitorij.unizg.hr/islandora/object/pmf:13329/datastream/PDF

الاتاحة: https://zir.nsk.hr/islandora/object/pmf:13329
https://urn.nsk.hr/urn:nbn:hr:217:483467
https://repozitorij.unizg.hr/islandora/object/pmf:13329
https://repozitorij.unizg.hr/islandora/object/pmf:13329/datastream/PDF

المؤلفون: Yanchi Wang, Wenbin Niu, Hao Shi, Xiao Bao, Yidong Liu, Manman Lu, Yingpu Sun

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, disheveled, EGL-10, and pleckstrin domain-containing protein 5, focal epilepsy, gene variation, mini-gene splicing assay, mTORC1 pathway

Relation: https://figshare.com/articles/figure/Image1_A_novel_variation_in_DEPDC5_causing_familial_focal_epilepsy_with_variable_foci_JPEG/26074486

الاتاحة: https://doi.org/10.3389/fgene.2024.1414259.s002
https://figshare.com/articles/figure/Image1_A_novel_variation_in_DEPDC5_causing_familial_focal_epilepsy_with_variable_foci_JPEG/26074486

المؤلفون: Yanchi Wang, Wenbin Niu, Hao Shi, Xiao Bao, Yidong Liu, Manman Lu, Yingpu Sun

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, disheveled, EGL-10, and pleckstrin domain-containing protein 5, focal epilepsy, gene variation, mini-gene splicing assay, mTORC1 pathway

Relation: https://figshare.com/articles/dataset/DataSheet1_A_novel_variation_in_DEPDC5_causing_familial_focal_epilepsy_with_variable_foci_PDF/26074483

الاتاحة: https://doi.org/10.3389/fgene.2024.1414259.s001
https://figshare.com/articles/dataset/DataSheet1_A_novel_variation_in_DEPDC5_causing_familial_focal_epilepsy_with_variable_foci_PDF/26074483

المؤلفون: Hemingway, Janet, Hawkes, Nicola, Prapanthadara, La-Aied, Ranson, Hilary

المصدر: Philosophical Transactions: Biological Sciences, 1998 Oct . 353(1376), 1695-1699.

URL الوصول: https://www.jstor.org/stable/56757

المؤلفون: Roland S. Hilgarth, Thomas M. Lanigan

المصدر: MethodsX, Vol 7, Iss , Pp 100759- (2020)

مصطلحات موضوعية: Overlap extension PCR, Subcloning, Restriction enzyme free gene splicing, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2215016119303358; https://doaj.org/toc/2215-0161

URL الوصول: https://doaj.org/article/02affab4f25e48c59f4f608459ecca81

المؤلفون: Tang Q, Hann SS

المصدر: OncoTargets and Therapy, Vol Volume 13, Pp 2067-2092 (2020)

مصطلحات موضوعية: circrna, cancer, mirna sponge, protein scaffolding, gene splicing and transcription, biomarker, therapeutic target, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: https://www.dovepress.com/biological-roles-and-mechanisms-of-circular-rna-in-human-cancers-peer-reviewed-article-OTT; https://doaj.org/toc/1178-6930; https://doaj.org/article/5f45e8a7b8674f7aadbb3f57641e47e9

الاتاحة: https://doaj.org/article/5f45e8a7b8674f7aadbb3f57641e47e9

المؤلفون: Lin, Jin‐huan, Tang, Xin‐ying, Boulling, Arnaud, Zou, Wen‐bin, Masson, Emmanuelle, Fichou, Yann, Raud, Loann, Le Tertre, Marlène, Deng, Shun‐jiang, Berlivet, Isabelle, Ka, Chandran, Mort, Matthew, Hayden, Matthew, Leman, Raphaël, Houdayer, Claude, Le Gac, Gerald, Cooper, David, Li, Zhao‐shen, Férec, Claude, Liao, Zhuan, Chen, Jian‐min

المساهمون: Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Second Military Medical University Shanghai, Shanghai Institute of Pancreatic Diseases Shanghai, China, Etablissement Français du Sang Bretagne, EFS, Laboratoire d'Excellence : Biogenèse et pathologies du globule rouge (Labex Gr-Ex), Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Institute of Medical Genetics, College of Medicine, Cardiff University, Centre Régional de Lutte contre le Cancer François Baclesse Caen (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute of Medical Genetics, Cardiff University-School of Medicine, Shanghai Institute of Pancreatic Diseases, Shanghai, China, Shanghai Institute of Pancreatic Diseases, Etablissement Français du Sang (EFS), ANR-11-LABX-0051,GR-Ex,Biogenèse et pathologies du globule rouge(2011)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: canonical 5′ splice site, full-length gene splicing assay, genotype and phenotype relationship, human gene mutation database, human inherited disease, noncanonical splice donor site, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: BIORXIV: 479493

الاتاحة: https://normandie-univ.hal.science/hal-02376953
https://normandie-univ.hal.science/hal-02376953v1/document
https://normandie-univ.hal.science/hal-02376953v1/file/479493.full.pdf
https://doi.org/10.1002/humu.23821