المؤلفون: Downs, Louise M, Webster, Andrew R, Moore, Anthony T, Michaelides, Michel, Ali, Robin R, Hardcastle, Alison J, Mellersh, Cathryn S

المصدر: Journal of Negative Results in BioMedicine. 15(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Human Genome, Eye Disease and Disorders of Vision, Rare Diseases, Neurodegenerative, Clinical Research, Genetics, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Eye, Neurological, Exons, Genetic Predisposition to Disease, Humans, Polymorphism, Single Nucleotide, Retinal Diseases, Retinal degeneration, Retinitis pigmentosa, SLC4A3, Clinical Sciences, General & Internal Medicine, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/13k6r1gg

المؤلفون: Downs, Louise, Webster, Andrew, Moore, Anthony, Michaelides, Michel, Ali, Robin, Hardcastle, Alison, Mellersh, Cathryn

مصطلحات موضوعية: Retinal degeneration, Retinitis pigmentosa, SLC4A3, Exons, Genetic Predisposition to Disease, Humans, Polymorphism, Single Nucleotide, Retinal Diseases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/13k6r1gg

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المؤلفون: Hancox, Jules C.^{Aff1, Aff4}, Whittaker, Dominic G.^{Aff2, Aff3}, Zhang, Henggui^Aff4, Stuart, Alan G.^{Aff5, Aff6}

المصدر: Journal of Congenital Cardiology. 3(1)

المؤلفون: Nicole B. Kampik, Nicole Gehring, Udo Schnitzbauer, J. Christopher Hennings, Christian A. Hübner, Carsten A. Wagner

المصدر: Cellular Physiology and Biochemistry, Vol 34, Iss 5, Pp 1566-1577 (2014)

مصطلحات موضوعية: Slc4a3, Mouse model, Kidney, Acid-base physiology, Anion exchanger, Physiology, QP1-981, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.karger.com/Article/FullText/366360; https://doaj.org/toc/1015-8987; https://doaj.org/toc/1421-9778

URL الوصول: https://doaj.org/article/78acaceebd2244c4a1d47b1a9140263d

المؤلفون: István Magyar, Wolfgang Berger, Luzy Baehr, Boldizsar Kovacs, A Maspoli, U Graf, A.M Saguner, Firat Duru

المصدر: EP Europace. 23

مصطلحات موضوعية: Genetics, biology, SLC4A3, business.industry, hERG, Heterozygote advantage, Short QT syndrome, medicine.disease, QT interval, Physiology (medical), biology.protein, Medicine, KvLQT1, Cardiology and Cardiovascular Medicine, business, Gene, High penetrance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::14367d703ac9f02529120915df565867
https://doi.org/10.1093/europace/euab116.327

المؤلفون: Roy Rabbie, Jyoti S. Choudhary, Vivek Iyer, Victoria Harle, Anneliese O. Speak, Andrew D. Campbell, Louise van der Weyden, Mark Tullett, David J. Adams, Agnieszka Swiatkowska, Gemma Turner, Victoria Offord, Alastair Droop, Owen J. Sansom, Mercedes Pardo, Mark J. Arends, Ingrid Ferreira

المصدر: van der Weyden, L, Harle, V, Turner, G, Offord, V, Iyer, V, Droop, A, Swiatkowska, A, Rabbie, R, Campbell, A D, Sansom, O, Calvo, P, Choudhary, J, Ferreira, I, Tullett, M, Arends, M J, Speak, A O & Adams, D J 2021, ' CRISPR activation screen in mice identifies novel membrane proteins enhancing pulmonary metastatic colonisation ', Communications biology . https://doi.org/10.1038/s42003-021-01912-w
Communications biology, 4 (1
Communications Biology, Vol 4, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Lung Neoplasms, Skin Neoplasms, Melanoma, Experimental, Medicine (miscellaneous), Metastasis, Mice, 0302 clinical medicine, Cell Movement, Mice, Inbred NOD, CRISPR, Biology (General), Regulation of gene expression, Mice, Knockout, Melanoma, interferon, Up-Regulation, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, Female, General Agricultural and Biological Sciences, SLC4A3, QH301-705.5, colonisation, General Biochemistry, Genetics and Molecular Biology, lung, dCas9, 03 medical and health sciences, CRISPRa, Downregulation and upregulation, Cell Line, Tumor, medicine, Biomarkers, Tumor, melanoma, Animals, Humans, Neoplasm Invasiveness, neoplasms, mouse, business.industry, Cancer, Membrane Proteins, Biologie moléculaire, TM4SF19, medicine.disease, Mice, Inbred C57BL, 030104 developmental biology, LRRN4CL, Membrane protein, Cancer research, Skin cancer, CRISPR-Cas Systems, business

وصف الملف: application/pdf; 1 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99f837d5f795f2006fde5b535f57805f
https://hdl.handle.net/20.500.11820/b49fb89b-916a-4103-b728-d63fecc4546d

المؤلفون: Jules C. Hancox, Henggui Zhang, Alan Graham Stuart, Dominic G. Whittaker

المصدر: Journal of Congenital Cardiology, Vol 3, Iss 1, Pp 1-15 (2019)
Hancox, J C, Whittaker, D G, Zhang, H & Stuart, G 2019, ' Learning from studying very rare cardiac conditions: the example of short QT syndrome ', Journal of Congenital Cardiology, vol. 3, 3 (2019) . https://doi.org/10.1186/s40949-019-0024-7

مصطلحات موضوعية: lcsh:Diseases of the circulatory (Cardiovascular) system, SLC4A3, Benign early repolarization, CACNA2D1, Kir2.1, Short QT syndrome, Cardiomyopathy, Gene mutation, Bioinformatics, arrhythmia, Sudden death, QT interval, channelopathy, Carnitine, medicine, Repolarization, atrial-selective, atrial fibrillation, hERG, KCNH2, Ventricular fibrillation, KCNJ2, Brugada syndrome, KCNQ1, business.industry, medicine.disease, Atrial fibrillation, CACNA1C, CACNB2b, Atrial-selective, lcsh:RC666-701, business, Arrhythmia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9921672ff4a9c8e9984c22d1caee32a7
http://link.springer.com/article/10.1186/s40949-019-0024-7

المؤلفون: Vikram ePrasad, John N Lorenz, Valerie M Lasko, Michelle L Nieman, Nabeel J Al Moamen, Gary E Shull

المصدر: Frontiers in Physiology, Vol 4 (2013)

مصطلحات موضوعية: Hypertrophy, PKB, protein kinase B, NBCe1, Slc4a3, SERCA2, Physiology, QP1-981

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fphys.2013.00399/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/23a775aa6bbf4143b7558a259360bfe6