المؤلفون: Yuepeng Hu, Jian-Min Chen, Han Zuo, Na Pu, Guofu Zhang, Yichen Duan, Gang Li, Zhihui Tong, Weiqin Li, Baiqiang Li, Qi Yang

المصدر: Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Biallelic variants, Compound heterozygote, Disease expression and severity, Familial chylomicronemia syndrome, Genotype/phenotype relationship, Hypertriglyceridemia-induced acute pancreatitis during pregnancy, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1476-511X

URL الوصول: https://doaj.org/article/7eacbf00ac0f4b20924505722c98d8de

المؤلفون: Victoria I. Bunik

المصدر: Frontiers in Medicine, Vol 11 (2024)

مصطلحات موضوعية: Charcot-Marie-Tooth neuropathy, deep mutational scanning, disease phenotype, gene and protein function, genotype-phenotype relationship, next generation sequencing, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1464672/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/798316d8703b4603a7127ff76953728f

المؤلفون: Thomas Kuhlman

المصدر: eLife, Vol 13 (2024)

مصطلحات موضوعية: SARS-CoV-2, genotype-phenotype relationship, biophysical fitness landscape, mutant spectrum, intrinsically disordered protein, protein evolution, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/99991; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/cf34a73b55034aa892935994176e10e4

المؤلفون: Ai Nguyen, Huaying Zhao, Dulguun Myagmarsuren, Sanjana Srinivasan, Di Wu, Jiji Chen, Grzegorz Piszczek, Peter Schuck

المصدر: eLife, Vol 13 (2024)

مصطلحات موضوعية: SARS-CoV-2, genotype-phenotype relationship, biophysical fitness landscape, mutant spectrum, intrinsically disordered protein, protein evolution, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/94836; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/69a87aec0aa54120ac8389e03fc2cdf5

المؤلفون: Benndorf, Rainer, Velazquez, Ryan, Zehr, Jordan D, Pond, Sergei L Kosakovsky, Martin, Jody L, Lucaci, Alexander G

المصدر: Cell Stress and Chaperones. 27(4)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Evolutionary Biology, Biotechnology, Genetics, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, Animals, Heat-Shock Proteins, Heat-Shock Proteins, Small, Humans, Molecular Chaperones, Mutation, Vertebrates, alpha-Crystallin B Chain, alpha-Crystallins, Purifying selection, Neuropathy, Myopathy, Disease-associated missense mutation, Genetic dominance, Genotype-phenotype relationship, Alpha B-crystallin, Genetic dominance, Neuropathy,  Myopathy, Biochemistry and Cell Biology, Biochemistry & Molecular Biology, Biochemistry and cell biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3rs7d3t4
https://escholarship.org/content/qt3rs7d3t4/qt3rs7d3t4.pdf

المؤلفون: Shi Runqian, Xu Ying, Chang Yuanyuan, Zhang Jianfang

المصدر: Xin yixue, Vol 54, Iss 12, Pp 849-854 (2023)

مصطلحات موضوعية: congenital abnormality, walker-warburg syndrome, pomt1 gene, α-dystroglycanopathy, protein o-mannosyl-transferase, genotype-phenotype relationship, Medicine

وصف الملف: electronic resource

Relation: https://www.xinyixue.cn/fileup/0253-9802/PDF/1704251127480-2112723157.pdf; https://doaj.org/toc/0253-9802

URL الوصول: https://doaj.org/article/7733f223b65a430db3e39d890379a0e0

المؤلفون: Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N. Cooper, Jian-Min Chen, Weiqin Li

المصدر: Lipids in Health and Disease, Vol 22, Iss 1, Pp 1-18 (2023)

مصطلحات موضوعية: Aberrant splicing, Cryptic splice site, Familial chylomicronemia syndrome, Genotype–phenotype relationship, Hypertriglyceridemia-related acute pancreatitis, In-frame variant, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1476-511X

URL الوصول: https://doaj.org/article/6e0b2acecd7045c7b7befd71c176c5b1

المؤلفون: Marena Trinidad, Xinying Hong, Steven Froelich, Jessica Daiker, James Sacco, Hong Phuc Nguyen, Madelynn Campagna, Dean Suhr, Teryn Suhr, Jonathan H. LeBowitz, Michael H. Gelb, Wyatt T. Clark

المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-35 (2023)

مصطلحات موضوعية: Metachromatic leukodystrophy, Genotype–phenotype relationship, Newborn screening, Mass spectrometry, Phenotype, Mutation, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/4606464433f9464689ed0c85be47519b

المؤلفون: Halimeh, Susan, Koch, Lydia, Kenet, Gili, Kuta, Piotr, Rahmfeld, Tess, Stoll, Monika, Nowak-Göttl, Ulrike

المصدر: Halimeh , S , Koch , L , Kenet , G , Kuta , P , Rahmfeld , T , Stoll , M & Nowak-Göttl , U 2024 , ' Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency : A Three-Center Database Study ' , Journal of Clinical Medicine , vol. 13 , no. 1 , 49 . https://doi.org/10.3390/jcm13010049

مصطلحات موضوعية: factor VII deficiency, genotype–phenotype relationship, rare coagulation disorders

Relation: https://cris.maastrichtuniversity.nl/en/publications/48e20e9f-44ed-4406-939e-26974f5d56c3

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/48e20e9f-44ed-4406-939e-26974f5d56c3
https://doi.org/10.3390/jcm13010049

المؤلفون: Benndorf, Rainer, Velazquez, Ryan, Zehr, Jordan D., Pond, Sergei, Martin, Jody L., Lucaci, Alexander, Pond|0000-0003-4817-4029, Lucaci|0000-0002-4896-6088

المساهمون: Institute for Genomics and Evolutionary Medicine (iGEM) (Temple University)

مصطلحات موضوعية: Purifying selection, Neuropathy, myopathy, Disease-associated missense mutation, Genetic dominance, Genotype-phenotype relationship, Alpha B-crystallin

وصف الملف: 15 pages

Relation: Elsevier; http://dx.doi.org/10.1007/s12192-022-01268-y; Cell Stress and Chaperones, Vol. 27, Iss. 4; Faculty/ Researcher Works; Rainer Benndorf, Ryan Velazquez, Jordan D. Zehr, Sergei L. Kosakovsky Pond, Jody L. Martin, Alexander G. Lucaci, Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution, Cell Stress and Chaperones, Volume 27, Issue 4, 2022, Pages 309-323, ISSN 1355-8145, https://doi.org/10.1007/s12192-022-01268-y.; http://hdl.handle.net/20.500.12613/10549

الاتاحة: https://hdl.handle.net/20.500.12613/10549

المؤلفون: Yue Huang, Liguan Li, Xiaole Yin, Tong Zhang

المصدر: Environmental Microbiome, Vol 18, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: PAH, Biodegradation, Database mining, Functional gene, Genome-centric analysis, Genotype–phenotype relationship, Environmental sciences, GE1-350, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2524-6372

URL الوصول: https://doaj.org/article/4147d42228094e409092e31b3dde82eb

المؤلفون: Sandra Freitag-Wolf, Jonas C. Schupp, Björn C. Frye, Annegret Fischer, Raihanatul Anwar, Robert Kieszko, Violeta Mihailović-Vučinić, Janusz Milanowski, Dragana Jovanovic, Gernot Zissel, Elena Bargagli, Paola Rottoli, Dragos Bumbacea, René Jonkers, Ling-Pei Ho, Karoline I. Gaede, Anna Dubaniewicz, Ben G. Marshall, Andreas Günther, Martin Petrek, Michael P. Keane, Sigridur O. Haraldsdottir, Francesco Bonella, Christian Grah, Tatjana Peroš-Golubičić, Zamir Kadija, Stefan Pabst, Christian Grohé, János Strausz, Martina Safrankova, Ann Millar, Jiří Homolka, Wim A. Wuyts, Lisa G. Spencer, Michael Pfeifer, Dominique Valeyre, Venerino Poletti, Hubertus Wirtz, Antje Prasse, Stefan Schreiber, Astrid Dempfle, Joachim Müller-Quernheim

المصدر: Frontiers in Medicine, Vol 10 (2023)

مصطلحات موضوعية: genetic polymorphism, genetic risk factors, sarcoidosis, genotype–phenotype-relationship, region-specific genetic links, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2023.1218106/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/ad511b3d40084d7293d0e9577c3c3078

المؤلفون: Rui Wang, Jingyun Li, Xin Zhou, Yunuo Mao, Wendong Wang, Shuai Gao, Wei Wang, Yuan Gao, Kexuan Chen, Shuntai Yu, Xinglong Wu, Lu Wen, Hao Ge, Wei Fu, Fuchou Tang

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)

مصطلحات موضوعية: Metastatic colorectal cancer, Single-cell transcriptome profiling, Lineage tracing, Genotype-phenotype relationship, Mitochondrial mutations, Patient-derived organoids, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/78926c6173fe426cbb0e3b3bc76cc554

المؤلفون: Kleschevnikov, Alexander M, Yu, Jessica, Kim, Jeesun, Lysenko, Larisa V, Zeng, Zheng, Yu, Y Eugene, Mobley, William C

مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Behavioral and Social Science, Mental Health, Intellectual and Developmental Disabilities (IDD), Genetics, Acquired Cognitive Impairment, Down Syndrome, Aetiology, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Underpinning research, Mental health, Animals, Dentate Gyrus, Disease Models, Animal, G Protein-Coupled Inwardly-Rectifying Potassium Channels, Gene Dosage, Locomotion, Male, Maze Learning, Mice, Mice, 129 Strain, Mice, Transgenic, Neuronal Plasticity, Down syndrome critical region, Kcnj6, Kir3.2, Genotype-phenotype relationship, Mouse models, Ts65Dn, Cognition, Learning, Novel object recognition, Y-maze, Locomotor activity, Synaptic plasticity, Fluoxetine, Long-term potentiation, Clinical Sciences, Neurology & Neurosurgery, Biochemistry and cell biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6422409s

المؤلفون: Ye Liu, William S. B. Yeung, Philip C. N. Chiu, Dandan Cao

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: in silico prediction, human genetics, genotype-phenotype relationship, nonsynonymous variants, variant impact, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.981005/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1747d293e79f47c8a7148a95ac85a0e9

المؤلفون: Yejin Lee, Wonseon Chae, Youn Jung Kim, Jung-Wook Kim

المصدر: Journal of Personalized Medicine; Volume 12; Issue 9; Pages: 1401

مصطلحات موضوعية: hereditary, splicing mutation, oligodontia, LRP6, spontaneous mutation, genotype-phenotype relationship

وصف الملف: application/pdf

Relation: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm12091401

الاتاحة: https://doi.org/10.3390/jpm12091401

المؤلفون: Fenqi Gao, Xiu Zhao, Bingyan Cao, Xin Fan, Xiaoqiao Li, Lele Li, Shengbin Sui, Zhe Su, Chunxiu Gong

المصدر: Journal of Personalized Medicine; Volume 12; Issue 3; Pages: 407

مصطلحات موضوعية: rare disease, KBG syndrome, ANKRD11 gene, genotype–phenotype relationship, development retardation

وصف الملف: application/pdf

Relation: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm12030407

الاتاحة: https://doi.org/10.3390/jpm12030407

المؤلفون: Youn Jung Kim, Yejin Lee, Hong Zhang, Figen Seymen, Mine Koruyucu, Sule Bayrak, Nuray Tuloglu, James P. Simmer, Jan C.-C. Hu, Jung-Wook Kim

المصدر: Journal of Personalized Medicine; Volume 12; Issue 6; Pages: 1002

مصطلحات موضوعية: hereditary, splicing mutation, dentinogenesis imperfecta, dentin sialophosphoprotein, DSPP, silent mutation, genotype−phenotype relationship

وصف الملف: application/pdf

Relation: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm12061002

الاتاحة: https://doi.org/10.3390/jpm12061002

المؤلفون: Sodikkhujaeva Shakhnoza

المصدر: Eurasian Journal of Physics,Chemistry and Mathematics; Vol. 11 (2022): EJPCM; 63-71 ; 2795-7667

مصطلحات موضوعية: topology, genotypes, genotype-phenotype relationship, sequences

وصف الملف: application/pdf

Relation: https://geniusjournals.org/index.php/ejpcm/article/view/2464/2117; https://geniusjournals.org/index.php/ejpcm/article/view/2464

الاتاحة: https://geniusjournals.org/index.php/ejpcm/article/view/2464

المؤلفون: Kim, Youn Jung, Lee, Yejin, Zhang, Hong, Seymen, Figen, Koruyucu, Mine, Bayrak, Şule, Tüloğlu, Nuray, Simmer, James P., Hu, Jan C-C., Kim, Jung-Wook

المساهمون: Seymen, Figen

مصطلحات موضوعية: Hereditary, Splicing Mutation, Dentinogenesis Imperfecta, Dentin Sialophosphoprotein, DSPP, Silent Mutation, Genotype−Phenotype Relationship

وصف الملف: application/pdf

Relation: Journal of Personalized Medicine; Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; Kim, Y. J., Lee, Y., Zhang, H., Seymen, F., Koruyucu, M., Bayrak, Ş., Tüloğlu, N., Simmer, J. P., Hu, Jan C-C., Kim, J. W. (2022). Translated mutant DSPP mRNA expression level impacts the severity of dentin defects. Journal of Personalized Medicine, 12(6), 1002.; https://hdl.handle.net/20.500.12939/2587; 12

الاتاحة: https://hdl.handle.net/20.500.12939/2587