المؤلفون: Ren, Xingjie, Yang, Han, Nierenberg, Jovia, Sun, Yifan, Chen, Jiawen, Beaman, Cooper, Pham, Thu, Nobuhara, Mai, Takagi, Maya, Narayan, Vivek, Li, Yun, Ziv, Elad, Shen, Yin

المصدر: Molecular Cell. 83(24)

مصطلحات موضوعية: disease variants, enhancer, high-throughput screens, prime editing, single-base resolution, Humans, Genome, Human, Genome-Wide Association Study, Reproducibility of Results, Regulatory Sequences, Nucleic Acid, DNA, Gene Editing, CRISPR-Cas Systems

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/11c4n26x
https://escholarship.org/content/qt11c4n26x/qt11c4n26x.pdf

المؤلفون: Nikita Shah, Ameya S. Kasture, Florian P. Fischer, Harald H. Sitte, Thomas Hummel, Sonja Sucic

المصدر: Frontiers in Molecular Neuroscience, Vol 17 (2024)

مصطلحات موضوعية: SLC6A1, GABA transporter 1, human disease variants, cellular quality control mechanisms, protein trafficking, epilepsy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2024.1466694/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/32a4d9eccf1a45ecadbc7b915b884790

المؤلفون: Gonzalez-Teran, Barbara, Pittman, Maureen, Felix, Franco, Thomas, Reuben, Richmond-Buccola, Desmond, Hüttenhain, Ruth, Choudhary, Krishna, Moroni, Elisabetta, Costa, Mauro W, Huang, Yu, Padmanabhan, Arun, Alexanian, Michael, Lee, Clara Youngna, Maven, Bonnie EJ, Samse-Knapp, Kaitlen, Morton, Sarah U, McGregor, Michael, Gifford, Casey A, Seidman, JG, Seidman, Christine E, Gelb, Bruce D, Colombo, Giorgio, Conklin, Bruce R, Black, Brian L, Bruneau, Benoit G, Krogan, Nevan J, Pollard, Katherine S, Srivastava, Deepak

المصدر: Cell. 185(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Cardiovascular Medicine and Haematology, Clinical Sciences, Stem Cell Research, Biotechnology, Heart Disease - Coronary Heart Disease, Pediatric, Cardiovascular, Heart Disease, Congenital Structural Anomalies, Stem Cell Research - Embryonic - Human, Aetiology, 2.1 Biological and endogenous factors, Animals, GATA4 Transcription Factor, Heart Defects, Congenital, Mice, Mutation, Nuclear Proteins, Oxidoreductases, Proteomics, T-Box Domain Proteins, Transcription Factors, GATA4, GLYR1, NPAC, TBX5, congenital heart disease, de novo variants, disease variants, genetics, protein interactome networks, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

URL الوصول: https://escholarship.org/uc/item/00m1b8f0

المؤلفون: Althagafi, Azza Th.

Thesis Advisors: Hoehndorf, Robert, Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division, Moshkov, Mikhail, Gojobori, Takashi, Schofield, Paul N.

مصطلحات موضوعية: Whole-Exome Sequencing, Whole-Genome Sequencing, Disease Genes, Disease Variants, Disease Phenotypes, Causal Variants Prediction, Causal Genes Prediction, Artificial Intelligence, Data Mining, Machine Learning, Deep Learning, Data Analytics, Biological Interactions, Protein-Protein Interactions, Gene-Disease Predictions, Variant-Disease Associations, Rare Diseases, Complex Diseases, Gene-Phenotype Associations, Ontology, Gene Product Functions, Anatomical Locations, Gene Prioritization, Variant Prioritization, Loss of Gene Function, Background Knowledge Data, Biological Knowledge Graph, Graph-Based Machine Learning, Biomedical Ontologies, Linked Biological Data, Representation Learning, Embeddings, Data Integration, Precision Medicine, Decision-Making, Biomedicine.

Relation: N/A

الاتاحة: http://hdl.handle.net/10754/693761

المؤلفون: Fitzpatrick, Fiona

المساهمون: Kunji, Edmund R. S.

مصطلحات موضوعية: 616, Mitochondria, Mitochondrial transport proteins, Calcium regulation, Disease variants, Rare diseases

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.824285

المؤلفون: Wardah S. Alharbi, Mamoon Rashid

المصدر: Human Genomics, Vol 16, Iss 1, Pp 1-20 (2022)

مصطلحات موضوعية: Human genomics, Deep learning applications, Disease variants, Gene expression, Epigenomics, Pharmacogenomics, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/a02989d1d801439ea249616ab04da1e9

المؤلفون: Shasta L. Sabo, Jessica M. Lahr, Madelyn Offer, Anika LA Weekes, Michael P. Sceniak

المصدر: Frontiers in Synaptic Neuroscience, Vol 14 (2023)

مصطلحات موضوعية: GRIN2B, GluN2B (NMDA receptor subunit NR2B), dendrite development, autism (ASD), neuron development, disease variants, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnsyn.2022.1090865/full; https://doaj.org/toc/1663-3563

URL الوصول: https://doaj.org/article/a2e39ed0c7724de9a6e63e84c5db66b2

المؤلفون: Ameya S. Kasture, Florian P. Fischer, Lisa Kunert, Melanie L. Burger, Alexander C. Burgstaller, Ali El-Kasaby, Thomas Hummel, Sonja Sucic

المصدر: Frontiers in Neuroscience, Vol 16 (2023)

مصطلحات موضوعية: Drosophila melanogaster, epilepsy, γ -aminobutyric acid (GABA), GABA transporter 1, protein folding and trafficking, transporter disease variants, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2022.1074427/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/4ffecd21f91c4448a6d11fb06eb3c27c

المؤلفون: Duan, T., Thyagarajan, S., Amoiroglou, A., Rogers, G.C., Geyer, P.K.

المساهمون: Department of Cellular and Molecular Medicine, University of Arizona

المصدر: Cellular and Molecular Life Sciences

مصطلحات موضوعية: Cell division, Checkpoint kinase 2, Chromosome segregation, Disease variants, DNA damage response, Oogenesis, Premature aging, Tissue homeostasis

Relation: Duan, T., Thyagarajan, S., Amoiroglou, A. et al. Analysis of a rare progeria variant of Barrier-to-autointegration factor in Drosophila connects centromere function to tissue homeostasis. Cell. Mol. Life Sci. 80, 73 (2023). https://doi.org/10.1007/s00018-023-04721-y; http://hdl.handle.net/10150/673983; Cellular and Molecular Life Sciences

الاتاحة: http://hdl.handle.net/10150/673983
https://doi.org/10.1007/s00018-023-04721-y

المؤلفون: Chunyu Liu, Muhammad Ajmal, Zaineb Akram, Tariq Ghafoor, Muhammad Farhan, Sobia Shafique, Sughra Wahid, Shahar Bano, Jianqiu Xiao, Humayoon Shafique Satti, Feng Zhang, Tahir Naeem Khan

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Autosomal recessive osteopetrosis, Genetic diagnosis, TCIRG1, Disease variants, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/2bf5b2c415524ca4aafc8083fa1e385f

المؤلفون: Jayashree Kumar, Lela Lackey, Justin M Waldern, Abhishek Dey, Anthony M Mustoe, Kevin M Weeks, David H Mathews, Alain Laederach

المصدر: eLife, Vol 11 (2022)

مصطلحات موضوعية: alternative splicing, beta regression, RNA structural ensemble, Tau, disease variants, chemical structure probing, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/73888; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/7e9b5b2f330645718e814d97ac9b25a0

المؤلفون: Li, Wei Vivian, Razaee, Zahra S, Li, Jingyi Jessica

المصدر: BMC genomics. (1)

مصطلحات موضوعية: Chromosomes, Human, Chromatin, Humans, Histones, Cluster Analysis, Polymorphism, Single Nucleotide, Enhancer Elements, Genetic, Promoter Regions, Genetic, Genome-Wide Association Study, Epigenomics, Comparative epigenomics, Tissue and cell type characteristics, Chromatin states, Enhancers and promoters, Histone modification, Disease variants, Multiple testing, Chromosomes, Human, Polymorphism, Single Nucleotide, Enhancer Elements, Genetic, Promoter Regions, Human Genome, Genetics, 1.1 Normal biological development and functioning, Generic Health Relevance, Bioinformatics, Biological Sciences, Medical and Health Sciences, Information and Computing Sciences

URL الوصول: https://escholarship.org/uc/item/85q3p9wn

المؤلفون: Florian P. Fischer (Institute of Pharmacology, Medical University of Vienna), Ameya S. Kasture (Department of Neuroscience and Developmental Biology, Faculty of Life Sciences, University of Vienna), Thomas Hummel (Department of Neuroscience and Developmental Biology, Faculty of Life Sciences, University of Vienna), Sonja Sucic (Institute of Pharmacology, Medical University of Vienna)

المصدر: Frontiers in Molecular Biosciences ; issn:2296-889X

مصطلحات موضوعية: autism, Drosophila melanogaster, epilepsy, gamma-aminobutyric acid (GABA), GABA transporter 1, intellectual disability, protein folding, transporter disease variants

وصف الملف: application/pdf

Relation: hdl:11353/10.1660054; https://phaidra.univie.ac.at/o:1660054

الاتاحة: https://doi.org/10.3389/fmolb.2022.834498
https://phaidra.univie.ac.at/o:1660054

المؤلفون: Anisah W. Ghoorah, Toto Chaplain, Rakotoarivony Rindra, Smita Goorah, Ganessen Chinien, Yasmina Jaufeerally-Fakim

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: precision medicine, genetics, South West Indian Ocean, demography, population structure, disease variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.758563/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1132a8a280194bd8bf50f081dbb2526e

المؤلفون: Hanna Julienne (469265), Vincent Laville (795185), Zachary R. McCaw (7482359), Zihuai He (741904), Vincent Guillemot (341855), Carla Lasry (11356072), Andrey Ziyatdinov (527850), Cyril Nerin (11356075), Amaury Vaysse (201242), Pierre Lechat (4667086), Hervé Ménager (646638), Wilfried Le Goff (199736), Marie-Pierre Dube (11356078), Peter Kraft (15118), Iuliana Ionita-Laza (46441), Bjarni J. Vilhjálmsson (9283751), Hugues Aschard (110171)

مصطلحات موضوعية: Genetics, Molecular Biology, Cancer, Science Policy, Infectious Diseases, Virology, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, +genome%22">xlink "> genome, wide association studies, gene cluster assignment, gwas summary statistics, connect disease variants, multitrait gwas, disease mechanisms, common variants, two subsets, metabolism set, metabolism phenotypes, integrative analysis, human phenotypes, drug targets, biological pathways, biological mechanisms, 36 phenotypes

Relation: https://figshare.com/articles/journal_contribution/Supplementary_Note_/16542013

الاتاحة: https://doi.org/10.1371/journal.pgen.1009713.s001

المؤلفون: Chunyu Liu (9855), Muhammad Ajmal (581123), Zaineb Akram (11671465), Tariq Ghafoor (11671468), Muhammad Farhan (4454434), Sobia Shafique (581117), Sughra Wahid (4684252), Shahar Bano (11671471), Jianqiu Xiao (5924582), Humayoon Shafique Satti (11671474), Feng Zhang (6548), Tahir Naeem Khan (11671477)

مصطلحات موضوعية: Genetics, Autosomal recessive osteopetrosis, Genetic diagnosis, TCIRG1, Disease variants

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Genetic_analysis_of_osteopetrosis_in_Pakistani_families_identifies_novel_and_known_sequence_variants/16969105

الاتاحة: https://doi.org/10.6084/m9.figshare.16969105.v1

المؤلفون: Sucic, Sonja, Bhat, Shreyas, El-Kasaby, Ali, Freissmuth, Michael

مصطلحات موضوعية: Neurotransmitter, Transporter, SLC6, Disease variants, Folding, Pharmacochaperoning

جغرافية الموضوع: UMW:14518

وصف الملف: text/html

Relation: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-34249/128; urn:nbn:at:at-ubmuw:3-34249; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-34249; local:99145832401003331; system:AC16127604

الاتاحة: https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-34249
https://doi.org/10.1016/j.pharmthera.2020.107785
https://repositorium.meduniwien.ac.at/doi/10.1016/j.pharmthera.2020.107785

المؤلفون: Harriet Prior, Ali K. Jawad, Lauren MacConnachie, Asim A. Beg

المصدر: G3: Genes, Genomes, Genetics, Vol 7, Iss 11, Pp 3693-3698 (2017)

مصطلحات موضوعية: CRISPR, Cas9, ribonucleoprotein, Caenorhabditis elegans, disease variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2160-1836

URL الوصول: https://doaj.org/article/4bfe9999ace14903b4cf4e943c1c34ad

المؤلفون: Laskowski, RA, Stephenson, JD, Sillitoe, I, Orengo, CA, Thornton, JM

المصدر: Protein Science , 29 (1) pp. 111-119. (2020)

مصطلحات موضوعية: 3D protein structure, CATH, ClinVar, PDB, Pfam, UniProt, VarMap, VarSite, disease variants, gnomAD, molecular interactions, natural variants, schematic diagrams

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10084094/8/Orengo_VarSite.%20Disease%20variants%20and%20protein%20structure_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10084094/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10084094/8/Orengo_VarSite.%20Disease%20variants%20and%20protein%20structure_AOP.pdf
https://discovery.ucl.ac.uk/id/eprint/10084094/

المؤلفون: Yu. N. Belenkov, E. V. Privalova, V. Yu. Kaplunova, I. S. Chekneva, Yu. I. Najmann, M. V. Kozhevnikova, G. A. Shakaryants, A. S. Lishuta

المصدر: Рациональная фармакотерапия в кардиологии, Vol 12, Iss 5, Pp 522-527 (2016)

مصطلحات موضوعية: hypertrophic cardiomyopathy, disease variants, prognosis, connective tissue dysplasia syndrome, modifying genes polymorphisms, Therapeutics. Pharmacology, RM1-950, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.rpcardio.online/jour/article/view/1331; https://doaj.org/toc/1819-6446; https://doaj.org/toc/2225-3653

URL الوصول: https://doaj.org/article/4a2701549ca14926a20f0024444ae989