نتائج البحث - "Jana, Sovová"

1

AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ede51a9102b69783bdeaf4b7f83cc9
https://hdl.handle.net/20.500.14178/1711

2

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

المؤلفون: Mark Sicking, Martina Živná, Pratiti Bhadra, Veronika Barešová, Andrea Tirincsi, Drazena Hadzibeganovic, Kateřina Hodaňová, Petr Vyleťal, Jana Sovová, Ivana Jedličková, Martin Jung, Thomas Bell, Volkhard Helms, Anthony J Bleyer, Stanislav Kmoch, Adolfo Cavalié, Sven Lang

المصدر: Life Science Alliance. 5:e202101150

مصطلحات موضوعية: Polycystic Kidney Diseases, Ecology, Health, Toxicology and Mutagenesis, Mutation, Missense, Plant Science, Endoplasmic Reticulum, Phenylbutyrates, Biochemistry, Genetics and Molecular Biology (miscellaneous), Sarcoplasmic Reticulum Calcium-Transporting ATPases, Protein Transport, HEK293 Cells, Renin, Humans, Calcium, Kidney Diseases, SEC Translocation Channels, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::299560b093d49a8cc889a987aa278ddb
https://doi.org/10.26508/lsa.202101150

3

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

المؤلفون: Veronika Baresova, Miroslav Votruba, Kálmán Tory, Aleš Hnízda, Jakub Sikora, Matthias T.F. Wolf, Marisa Santostefano, Neila Belghith, Lídia Balogh, Jan Živný, Tal Kopel, Robert M. Haws, Bertrand Knebelmann, Andrea Wenzel, Bodo B. Beck, Lawrence R. Shoemaker, Laurent Mesnard, Anna Jakubowska, Kendrah Kidd, Charles Shaw-Smith, Christoforos Stavrou, Mayssa Abdelwahed, Constantinos Deltas, John A. Sayer, Claudio Graziano, Rhian L Clissold, Petr Vyleťal, Stanislav Kmoch, Victoria Robins, Howard Trachtman, Michael E. Bleyer, Marie Matignon, Anthony J. Bleyer, Kathleen Claes, Jana Sovová, Irene Capelli, Philippe Grimbert, Sharon M. Moe, Luca Rampoldi, Ivana Jedličková, Karsten Häeffner, Stéphane Decramer, Kateřina Hodaňová, Helena Trešlová, Matthew R. Sinclair, Raj Munshi, Gregory Papagregoriou, Hana Hartmannová, Albert C.M. Ong, Mohamad Zaidan, Agnieszka Łaszkiewicz, Amy N. Sussman, Claudia Izzi, Martina Živná, Helena Hůlková, Francesco Scolari

المساهمون: Živná, M, Kidd, K, Zaidan, M, Vyleťal, P, Barešová, V, Hodaňová, K, Sovová, J, Hartmannová, H, Votruba, M, Trešlová, H, Jedličková, I, Sikora, J, Hůlková, H, Robins, V, Hnízda, A, Živný, J, Papagregoriou, G, Mesnard, L, Beck, Bb, Wenzel, A, Tory, K, Häeffner, K, Wolf, Mtf, Bleyer, Me, Sayer, Ja, Ong, Acm, Balogh, L, Jakubowska, A, Łaszkiewicz, A, Clissold, R, Shaw-Smith, C, Munshi, R, Haws, Rm, Izzi, C, Capelli, I, Santostefano, M, Graziano, C, Scolari, F, Sussman, A, Trachtman, H, Decramer, S, Matignon, M, Grimbert, P, Shoemaker, Lr, Stavrou, C, Abdelwahed, M, Belghith, N, Sinclair, M, Claes, K, Kopel, T, Moe, S, Deltas, C, Knebelmann, B, Rampoldi, L, Kmoch, S, Bleyer, Aj

المصدر: Kidney international. 98(6)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43a3f233cbb9fbd3984ddb55fbd2a59a
https://pubmed.ncbi.nlm.nih.gov/33276865

4

SP025Aberrant biogenesis and trafficking of secretory proteins is a common pathogenetic mechanism of autosomal dominant tubulointerstitial kidney disease (ADTKD)

المؤلفون: Stanislav Kmoch, Petr Vyleťal, Veronika Baresova, Hana Hartmannová, Martina Zivna, Katerina Hodaňová, Kendrah Kidd, Anthony J. Bleyer, Jana Sovová, Ivana Jedličková, Viktor Stránecký, Helena Hůlková

المصدر: Nephrology Dialysis Transplantation. 34

مصطلحات موضوعية: Transplantation, Secretory protein, Nephrology, business.industry, Mechanism (biology), Medicine, business, medicine.disease, Biogenesis, Cell biology, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ba53bbf22d783ceae88a48a012c873eb
https://doi.org/10.1093/ndt/gfz103.sp025

5

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

المؤلفون: Stanislav Kmoch, Petr Vyleťal, Frederick Andermann, Jakub Sikora, Lenka Nosková, Dita Musalkova, Jana Sovová, Viktor Stránecký, Anna Přistoupilová, Ivana Jedličková, Kateřina Hodaňová, Helena Hůlková, Hana Hartmannová, Patrick Cossette, Maxime Cadieux-Dion, Eva Andermann, Veronika Baresova

المصدر: Eur J Hum Genet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f3fa1e9447fa1c177e9cc7d60718389
https://pubmed.ncbi.nlm.nih.gov/31919451

Find this article in full text from Springer Verlag.

Find this article in full text from ProQuest

6

Noninvasive Immunohistochemical Diagnosis and Novel

المصدر: J Am Soc Nephrol

مصطلحات موضوعية: Male, Incidence, Biopsy, Needle, Mucin-1, Polycystic Kidney, Autosomal Dominant, Prognosis, Immunohistochemistry, Risk Assessment, Pedigree, Case-Control Studies, Mutation, Humans, Female, Genetic Predisposition to Disease, Registries, Erratum, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7e1e9fe02af7390bed48f1a9a951f80e
https://pubmed.ncbi.nlm.nih.gov/32234832

7

Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene

المؤلفون: Hana Hartmannová, Viktor Stranecky, Lenka Piherová, Helena Hulkova, Marek Sramko, Milos Kubanek, Jana Sovová, Jana Maluskova, Stanislav Kmoch, Petr Ridzon, Josef Kautzner, Katerina Hodanova, Anna Pristoupilova, Tomáš Marek, Lenka Nosková

المصدر: Circulation: Cardiovascular Genetics. 6:543-551

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Muscle Proteins, Exercise intolerance, Biology, Frameshift mutation, Electrocardiography, Genes, X-Linked, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Myopathy, Exome, Genetics (clinical), Exome sequencing, Aged, 80 and over, Family Health, Reverse Transcriptase Polymerase Chain Reaction, Myocardium, Intracellular Signaling Peptides and Proteins, Hypertrophic cardiomyopathy, Skeletal muscle, Cardiomyopathy, Hypertrophic, LIM Domain Proteins, Middle Aged, medicine.disease, Immunohistochemistry, FHL1, Pedigree, Microscopy, Electron, medicine.anatomical_structure, Endocrinology, Mutation, Female, medicine.symptom, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab85f5903f48ae392317ca33b7b4048
https://doi.org/10.1161/circgenetics.113.000245

8

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

المؤلفون: Martin R. Pollak, Kerstin Lindblad-Toh, Helena Hůlková, Matthew Defelice, Veronika Baresova, Chun Ye, Melissa Parkin, James T. Robinson, Ramnik J. Xavier, Scott Steelman, Mark J. Daly, Eric S. Lander, Danielle Perrin, Corinne Antignac, Edward Kelliher, Seth L. Alper, Michael C. Zody, Aviv Regev, Robert E. Handsaker, David B. Jaffe, Jana Sovová, Brendan Blumenstiel, Todd Green, Irit Gat-Viks, Petr Vylet'al, Christine Stevens, Mitchell Guttman, Nathalie Pochet, Carrie Sougnez, Snaevar Sigurdsson, Chad Nusbaum, Moran N. Cabili, Steven J. Scheinman, Anthony J. Bleyer, Elizabeth J. Rossin, Daniel Aird, Kristian Cibulskis, Andreas Gnirke, Stacey Gabriel, P. Suzanne Hart, Stanislav Kmoch, Andrew Kirby, Riza M. Daza

المساهمون: Massachusetts Institute of Technology. Department of Biology, Regev, Aviv, Lander, Eric S.

المصدر: Nature genetics, vol 45, iss 3
NATURE GENETICS
Regev via Courtney Crummett

مصطلحات موضوعية: Male, Kidney Disease, Genetic Linkage, Minisatellite Repeat, 030232 urology & nephrology, Sequence assembly, Minisatellite Repeats, Biology, Medullary cystic kidney disease, Medical and Health Sciences, Cytosine, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Tandem repeat, LINKAGE, LOCUS, Genetics, medicine, Humans, Polycystic Kidney, 2.1 Biological and endogenous factors, Aetiology, Exome sequencing, GENETIC DIAGNOSIS, 030304 developmental biology, 0303 health sciences, Massive parallel sequencing, REFINEMENT, Mucin-1, Haplotype, Biology and Life Sciences, High-Throughput Nucleotide Sequencing, Biological Sciences, medicine.disease, 3. Good health, Good Health and Well Being, MCKD1, Haplotypes, Autosomal Dominant, Mutation, MAP, Mendelian inheritance, symbols, Female, CHROMOSOME 1Q21, Biotechnology, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3467c7a6bd9f4ff8aaf17ae1c2d24278
https://doi.org/10.1038/ng.2543

Find this article in full text from ProQuest

9

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

المصدر: American Journal of Human Genetics, 99, 174-87
American Journal of Human Genetics, 99, 1, pp. 174-87
The American journal of human genetics
AMERICAN JOURNAL OF HUMAN GENETICS

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Pathology, Biopsy, medicine.medical_treatment, PRONEPHROS, 030232 urology & nephrology, Golgi Apparatus, Endoplasmic Reticulum, 0302 clinical medicine, ENDOPLASMIC-RETICULUM STRESS, Medicine and Health Sciences, Exome, Genetics(clinical), Child, SIGNAL SEQUENCE, Zebrafish, Genetics (clinical), Kidney transplantation, Genes, Dominant, Genetics, Kidney, Fetal Growth Retardation, medicine.diagnostic_test, Anemia, Syndrome, Middle Aged, ER STRESS, Pedigree, TRANSLOCATION, 3. Good health, GENOME, Phenotype, medicine.anatomical_structure, Disease Progression, Female, Kidney Diseases, Renal biopsy, Adult, Heterozygote, medicine.medical_specialty, Neutropenia, NEPHROPATHY, Tubular atrophy, Mutation, Missense, DNA-SEQUENCING DATA, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Article, Nephropathy, Young Adult, 03 medical and health sciences, GENE MUTATION, medicine, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Alleles, Dialysis, Aged, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], LINKAGE ANALYSIS, Infant, Newborn, Biology and Life Sciences, Glomerulosclerosis, medicine.disease, 030104 developmental biology, Chronic Disease, Mutation, Human medicine, SEC Translocation Channels, Kidney disease

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0a31adcf2631af5c0fcb97de1a13ca7
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/167296

View record from ScienceDirect

10

تنقيح النتائج