المؤلفون: Wenli Dai, Brigitte Laforest, Leonid Tyan, Kaitlyn M Shen, Rangarajan D Nadadur, Francisco J Alvarado, Stefan R Mazurek, Sonja Lazarevic, Margaret Gadek, Yitang Wang, Ye Li, Hector H Valdivia, Le Shen, Michael T Broman, Ivan P Moskowitz, Christopher R Weber

المصدر: eLife, Vol 8 (2019)

مصطلحات موضوعية: atrial fibrillation, Tbx5, SR calcium ATPase, calcium handling, sodium-calcium exchanger, triggered activity, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/41814; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/5542066897174d2fb4a630960edaea63

المؤلفون: Xinan H Yang, Rangarajan D Nadadur, Catharina RE Hilvering, Valerio Bianchi, Michael Werner, Stefan R Mazurek, Margaret Gadek, Kaitlyn M Shen, Joseph Aaron Goldman, Leonid Tyan, Jenna Bekeny, Johnathon M Hall, Nutishia Lee, Carlos Perez-Cervantes, Ozanna Burnicka-Turek, Kenneth D Poss, Christopher R Weber, Wouter de Laat, Alexander J Ruthenburg, Ivan P Moskowitz

المصدر: eLife, Vol 6 (2017)

مصطلحات موضوعية: Cis-regulatory element, enhancer, Transcription factor, non-coding RNA (ncRNA), Tbx5, calcium, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/31683; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/483cf25f032e4eb3bd37b9b1b0cee643

المؤلفون: Parisha P. Shah, Garrett T. Santini, Kaitlyn M. Shen, Rajan Jain

المصدر: Current Cardiology Reports. 25:307-314

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b160b9fcefca44527a03e103bcc62a76
https://doi.org/10.1007/s11886-023-01853-2

المؤلفون: Eugênia Ribeiro Valadares, Kaitlyn M Shen, Sérgio D.J. Pena, Alanna Strong, Dong Li, Natália D. Linhares, David Cassiman, Elaine H. Zackai, Deindl Philipp, Penny Chow, Arupa Ganguly, Jaak Jaeken, Samantha A. Schrier Vergano, Maria Van Dyck, Tatjana Bierhals, Tiancheng Wang, Elizabeth J. Bhoj, Hakon Hakonarson, Anne Hing, Tasja Scholz

المصدر: Genetics in Medicine. 23:637-644

مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, media_common.quotation_subject, Nonsense, 030105 genetics & heredity, medicine.disease, Frameshift mutation, MED12, 03 medical and health sciences, 030104 developmental biology, Intestinal malrotation, Intellectual disability, medicine, Missense mutation, business, Genetics (clinical), Exome sequencing, Loss function, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::28c1440c63c0678ccdad82ef556db492
https://doi.org/10.1038/s41436-020-01031-7

المؤلفون: Elaine H. Zackai, Kaitlyn M Shen, Dong Li, Elizabeth J. Bhoj

المصدر: American Journal of Medical Genetics Part A. 182:3035-3039

مصطلحات موضوعية: 0301 basic medicine, Mutation, education.field_of_study, Microcephaly, Pathology, medicine.medical_specialty, business.industry, Population, 030105 genetics & heredity, Cortical dysplasia, medicine.disease_cause, medicine.disease, Phenotype, 03 medical and health sciences, 030104 developmental biology, Genetics, medicine, Missense mutation, education, business, Allele frequency, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2500c8a96be6686961dd233d186db692
https://doi.org/10.1002/ajmg.a.61897

المؤلفون: Sonja Lazarevic, Margaret Gadek, Ivan P. Moskowitz, Kaitlyn M Shen, Zhezhen Wang, Carlos Perez-Cervantes, David S. Park

المصدر: Circulation Research. 129

مصطلحات موضوعية: Disease specific, Physiology, business.industry, cardiovascular system, Medicine, Computational biology, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1bb34663a76d3998a29a715159049d48
https://doi.org/10.1161/res.129.suppl_1.p484

المؤلفون: Christopher R. Weber, Kaitlyn M Shen, Michael Broman, Margaret Gadek, Leonid Tyan, Ivan P. Moskowitz, Wenli Dai, Brigitte Laforest, Sonja Lazarevic

المصدر: Journal of Clinical Investigation. 129:4937-4950

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Ryanodine receptor 2, Mice, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Internal medicine, Atrial Fibrillation, Calcium flux, medicine, Animals, Homeostasis, Humans, Calcium Signaling, Heart Atria, GATA4, business.industry, Calcium channel, Cardiac arrhythmia, Atrial fibrillation, General Medicine, medicine.disease, Phospholamban, Sarcoplasmic Reticulum, 030104 developmental biology, Endocrinology, Genetic Loci, 030220 oncology & carcinogenesis, cardiovascular system, Calcium, Haploinsufficiency, business, Genome-Wide Association Study, Transcription Factors, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05737b7f1e8fad3b50c1dcb4cf0b2e36
https://doi.org/10.1172/jci124231

المؤلفون: Carlos Perez-Cervantes, Brigitte Laforest, Ivan P. Moskowitz, Eric C. Svensson, Christopher R. Weber, Kaitlyn M Shen, Sonja Lazarevic, Michael Broman, Kohta Ikegami, Xinan Yang, Rangarajan D. Nadadur, Margaret Gadek, Stefan R Mazurek, Jeff Steimle

المصدر: Circulation Research. 127

مصطلحات موضوعية: Rhythm, Physiology, cardiovascular system, Gene regulatory network, Biology, Cardiology and Cardiovascular Medicine, Homeostasis, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c0612fbbd8d3f3301bfa9aa120ce49ef
https://doi.org/10.1161/res.127.suppl_1.550

المؤلفون: Dong, Li, Alanna, Strong, Kaitlyn M, Shen, David, Cassiman, Maria, Van Dyck, Natalia Duarte, Linhares, Eugenia Ribeiro, Valadares, Tiancheng, Wang, Sergio D J, Pena, Jaak, Jaeken, Samantha, Vergano, Elaine, Zackai, Anne, Hing, Penny, Chow, Arupa, Ganguly, Tasja, Scholz, Tatjana, Bierhals, Deindl, Philipp, Hakon, Hakonarson, Elizabeth, Bhoj

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)

مصطلحات موضوعية: Adult, Cleft Palate, Young Adult, Cholestasis, Mediator Complex, Phenotype, Genes, X-Linked, Intellectual Disability, Mental Retardation, X-Linked, Humans, Female, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9113bbef12bfe74d6dd97ebf285ad688
https://pubmed.ncbi.nlm.nih.gov/33244166

المؤلفون: Rangarajan D. Nadadur, Jiajie Yan, Brigitte Laforest, Christopher R. Weber, Wenli Dai, Eric C. Beyer, Kaitlyn M Shen, Xun Ai, Ye Li, Margaret Gadek, Michael Broman, Heather L. Smith, Edward G. Lakata, Jaclyn A. Brennan, Ivan P. Moskowitz, Igor R. Efimov, Bruce D. Ziman, Mingyi Wang, Narayanan Kasthuri, Le Shen, Joanna Gemel, Jing Zhang

المصدر: Circ Res

مصطلحات موضوعية: Tight junction, Physiology, Chemistry, Cell junction, Article, Cell biology, medicine.anatomical_structure, Heart Conduction System, Heart Rate, Tight junction protein 1, Paracellular transport, Cardiac conduction, medicine, Atrioventricular Node, Ventricular Function, Myocytes, Cardiac, Cardiology and Cardiovascular Medicine, Intercalated disc, Cytoskeleton, Actin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f3d31e3f9267db11533496cca7731a2
https://europepmc.org/articles/PMC7334106/

المؤلفون: Ivan P. Moskowitz, Brigitte Laforest, Stefan R Mazurek, Wenli Dai, Héctor H. Valdivia, Ye Li, Le Shen, Margaret Gadek, Christopher R. Weber, Rangarajan D. Nadadur, Yitang Wang, Sonja Lazarevic, Michael Broman, Francisco J. Alvarado, Leonid Tyan, Kaitlyn M Shen

مصطلحات موضوعية: chemistry, Mechanism (biology), Mutant, medicine, chemistry.chemical_element, Atrial fibrillation, Calcium, medicine.disease, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ff4c20f60719420f5840381c2edf8bf1
https://doi.org/10.7554/elife.41814.032

المؤلفون: Jenna Bekeny, Christopher R. Weber, Margaret Gadek, Wouter de Laat, Xinan Yang, Valerio Bianchi, Joseph A. Goldman, Catharina R.E. Hilvering, Kenneth D. Poss, Stefan R Mazurek, Nutishia Lee, Rangarajan D. Nadadur, Alexander J. Ruthenburg, Ivan P. Moskowitz, Kaitlyn M Shen, Michael S. Werner, Leonid Tyan, Ozanna Burnicka-Turek, Carlos Perez-Cervantes, Johnathon M Hall

المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: eLife, 6. eLife Sciences Publications
eLife
eLife, Vol 6 (2017)
Elife, 6:31683. eLife Sciences Publications, Ltd

مصطلحات موضوعية: 0301 basic medicine, Periodicity, RNA, Untranslated, HL-1, Transcription, Genetic, Mouse, Untranslated/biosynthesis, Gene regulatory network, Mice, Transcription (biology), Gene Regulatory Networks, Biology (General), CELL-LINE, General Neuroscience, Heart, General Medicine, Non-coding RNA, Tbx5, Long non-coding RNA, Heart/physiology, 3. Good health, Enhancer Elements, Genetic, Genomics and Evolutionary Biology, Genes and Chromosomes, T-Box Domain Proteins/metabolism, Medicine, Cis-regulatory element, Transcription, Research Article, PACKAGE, EXPRESSION, Enhancer Elements, BROWSER, QH301-705.5, DATABASE, Science, NcRNA transcription, Computational biology, Biology, General Biochemistry, Genetics and Molecular Biology, RNAS, 03 medical and health sciences, Genetic, non-coding RNA (ncRNA), Journal Article, Animals, Enhancer, Gene, Transcription factor, calcium, General Immunology and Microbiology, RNA, Untranslated/biosynthesis, long noncoding RNA (lncRNA), 030104 developmental biology, RNA, enhancer, T-Box Domain Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b255f6d02e9d468ef7b6226b31aa58
https://doi.org/10.7554/elife.31683

المؤلفون: Valerio Bianchi, Jenna Bekeny, Nutishia Lee, Xinan Yang, Alexander J. Ruthenburg, Rangarajan D. Nadadur, Ozanna Burnicka-Turek, Kenneth D. Poss, Stefan R Mazurek, Michael Werner, Wouter de Laat, Johnathon M Hall, Ivan P. Moskowitz, Catharina R.E. Hilvering, Joseph A. Goldman, Margaret Gadek, Leonid Tyan, Carlos Perez-Cervantes, Kaitlyn M Shen, Christopher R. Weber

مصطلحات موضوعية: Rhythm, Transcription (biology), Biology, Enhancer, Gene, Transcription factor, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7566c10069446538d080e7886e209296
https://doi.org/10.7554/elife.31683.021

المؤلفون: Le Shen, Wenli Dai, Kaitlyn M Shen, Michael Broman, Margaret Gadek, Rangarajan D. Nadadur, Ivan P. Moskowitz, Christopher R. Weber

المصدر: Biophysical Journal. 114:626a-627a

مصطلحات موضوعية: medicine.anatomical_structure, Chemistry, Biophysics, medicine, Intercalated disc, Cardiovascular physiology, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4e9af33b1b2c9d8cbee5f6fed582b7c2
https://doi.org/10.1016/j.bpj.2017.11.3385

المؤلفون: Ivan P. Moskowitz, Christopher R. Weber, Yitang Wang, Jenna Bekeny, Le Shen, Héctor H. Valdivia, Wenli Dai, Brigitte Laforest, Kaitlyn M Shen, Margaret Gadek, Stefan R Mazurek, Leonid Tyan, Francisco J. Alvarado, Michael Broman, Rajiv Nadadur

المصدر: Biophysical Journal. 114:149a

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, medicine.medical_specialty, 030104 developmental biology, business.industry, Internal medicine, Biophysics, Cardiology, Prolongation, Medicine, Atrial fibrillation, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a4d8ab4eb4aa07a6e98efe0af1b502fd
https://doi.org/10.1016/j.bpj.2017.11.836