-
1دورية أكاديمية
المؤلفون: Friedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, Massimo Attanasio, Gudrun Nürnberg, Christian Becker, Dominik Seelow, Norbert Huebner, Gil Chernin, Christopher N Vlangos, Weibin Zhou, John F O'Toole, Bethan E Hoskins, Matthias T F Wolf, Bernward G Hinkes, Hassan Chaib, Shazia Ashraf, Dominik S Schoeb, Bugsu Ovunc, Susan J Allen, Virginia Vega-Warner, Eric Wise, Heather M Harville, Robert H Lyons, Joseph Washburn, James Macdonald, Peter Nürnberg, Edgar A Otto
المصدر: PLoS Genetics, Vol 5, Iss 1, p e1000353 (2009)
وصف الملف: electronic resource
-
2
-
3
المؤلفون: Virginia Vega-Warner, Toby W. Hurd, Friedhelm Hildebrandt, Jeffrey W. Innis, Neveen A. Soliman, Weibin Zhou, Christian Faul, Yaacov Frishberg, Bodo B. Beck, Olivier Gribouval, Katrina A. Diaz, Gil Chernin, Zhe Han, Shawn Levy, Edgar A. Otto, Dominik S. Schoeb, Heike Goebel, Heon Yung Gee, Joseph Washburn, Pawaree Saisawat, Sivakumar Natarajan, Lutz T. Weber, Hanan M. Fathy, Shazia Ashraf, Bugsu Ovunc, Humphrey Fang, Roger C. Wiggins, Svjetlana Lovric, Corinne Antignac, Julia Hoefele
المصدر: Gee, H Y, Saisawat, P, Ashraf, S, Hurd, T W, Vega-Warner, V, Fang, H, Beck, B B, Gribouval, O, Zhou, W, Diaz, K A, Natarajan, S, Wiggins, R C, Lovric, S, Chernin, G, Schoeb, D S, Ovunc, B, Frishberg, Y, Soliman, N A, Fathy, H M, Goebel, H, Hoefele, J, Weber, L T, Innis, J W, Faul, C, Han, Z, Washburn, J, Antignac, C, Levy, S, Otto, E A & Hildebrandt, F 2013, ' ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling ', Journal of Clinical Investigation, vol. 123, no. 8, pp. 3243-53 . https://doi.org/10.1172/JCI69134
مصطلحات موضوعية: rac1 GTP-Binding Protein, Nephrotic Syndrome, RHOA, Mutation, Missense, RAC1, CDC42, GTPase, medicine.disease_cause, Consanguinity, Cell Movement, Protein Interaction Mapping, medicine, Animals, Humans, Missense mutation, cdc42 GTP-Binding Protein, Cells, Cultured, Genetic Association Studies, Zebrafish, rho Guanine Nucleotide Dissociation Inhibitor alpha, Mutation, Base Sequence, biology, Podocytes, Homozygote, Chromosome Mapping, Sequence Analysis, DNA, General Medicine, Phenotype, Protein Transport, Cdc42 GTP-Binding Protein, Case-Control Studies, Gene Knockdown Techniques, biology.protein, Cancer research, rhoA GTP-Binding Protein, Protein Binding, Signal Transduction, Research Article
وصف الملف: application/pdf
-
4
المؤلفون: Duyen T. Dang, Feng Chen, M R Cruz-Correa, K L Innes, L H Dang, R Zhao, J W MacDonald, Sang Y. Chun, Joseph Washburn
المصدر: Oncogene. 26:4725-4729
مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Transcription, Genetic, medicine.medical_treatment, Down-Regulation, Biology, Transcription (biology), Cell Line, Tumor, Internal medicine, Genetics, medicine, Humans, CDX2 Transcription Factor, Promoter Regions, Genetic, CDX2, Molecular Biology, Psychological repression, Transcription factor, Homeodomain Proteins, Regulation of gene expression, Growth factor, Promoter, digestive system diseases, Up-Regulation, Cell biology, Gene Expression Regulation, Neoplastic, Insulin-Like Growth Factor Binding Proteins, Repressor Proteins, Insulin-Like Growth Factor Binding Protein 3, Endocrinology, embryonic structures, Homeobox, Colorectal Neoplasms
-
5
المؤلفون: Sean A. Misek, Evelyn H. Kim, Francis D. Pagani, Karen L. Vikstrom, Jin Young Kim, Joseph Washburn, Margaret V. Westfall, Vladimir Galchev, Sharlene M. Day, Tamara K. Stevenson, Matthew D. Campbell, Daniel E. Michele, David E. Misek, T. Craig Johnson
المصدر: Proteomics. Clinical applications. 10(5)
مصطلحات موضوعية: 0301 basic medicine, Collagen Type IV, medicine.medical_specialty, Clinical Biochemistry, Primary Cell Culture, Myocardial Ischemia, Basement Membrane, Article, Rats, Sprague-Dawley, 03 medical and health sciences, Laminin, Internal medicine, medicine, Myocyte, Animals, Humans, Myocytes, Cardiac, Cell adhesion, Aged, Pressure overload, Regulation of gene expression, Heart Failure, Membrane Glycoproteins, biology, Gene Expression Profiling, Myocardium, Cardiac myocyte, Middle Aged, medicine.disease, Rats, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Gene Expression Regulation, Heart failure, biology.protein, Basal lamina
-
6
المؤلفون: Jun-yi Zhu, Virginia Vega-Warner, Joseph Washburn, A. Boor, Zhe Han, Humphrey Fang, Friedhelm Hildebrandt, Weibin Zhou, Carolin E. Sadowski, Shawn Levy, Julia Hoefele, Stefan Kohl, Lutz T. Weber, Richard P. Lifton, Fujian Zhang, Svjetlana Lovric, Shazia Ashraf, Heon Yung Gee, Margaret Nettleton, Edgar A. Otto, Jeffrey W. Innis, Ludmila Podracka, Henry Fehrenbach
المصدر: The Journal of clinical investigation. 125(6)
مصطلحات موضوعية: Male, medicine.medical_specialty, RHOA, Nephrotic Syndrome, 030232 urology & nephrology, Biology, medicine.disease_cause, Podocyte, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Animals, Drosophila Proteins, Humans, Zebrafish, 030304 developmental biology, Adaptor Proteins, Signal Transducing, 0303 health sciences, Gene knockdown, Mutation, Podocytes, Tumor Suppressor Proteins, Microfilament Proteins, General Medicine, Zebrafish Proteins, medicine.disease, Cell biology, Rats, Cytoskeletal Proteins, Proteinuria, Endocrinology, medicine.anatomical_structure, Drosophila melanogaster, Gene Knockdown Techniques, Slit diaphragm, biology.protein, Synaptopodin, Female, Nephrotic syndrome, Genetic screen
-
7
المؤلفون: Joseph Washburn, Michael E. Ray, Zeng-Quan Yang, Jill A. Macoska, Celina G. Kleer, Donna G. Albertson, Stephen P. Ethier
المصدر: Cancer Research. 64:40-47
مصطلحات موضوعية: Genetic Markers, Cancer Research, DNA, Complementary, FGFR Inhibition, Breast Neoplasms, Biology, medicine.disease_cause, Breast cancer, Gene duplication, Tumor Cells, Cultured, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 1, skin and connective tissue diseases, Oligonucleotide Array Sequence Analysis, Oncogene, Gene Amplification, Chromosome Mapping, Receptor Protein-Tyrosine Kinases, Oncogenes, Amplicon, medicine.disease, Receptors, Fibroblast Growth Factor, Molecular biology, Gene Expression Regulation, Neoplastic, Gene expression profiling, Blotting, Southern, Oncology, Female, Carcinogenesis, Chromosomes, Human, Pair 8, Comparative genomic hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::117b7bd30606e3cfedea39d6e9db364f
https://doi.org/10.1158/0008-5472.can-03-1022 -
8Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
المؤلفون: John F. O’Toole, Joseph Washburn, Richard A. Lewis, Savas Ozturk, Jeffrey W. Innis, Toby W. Hurd, Khawla A Rahim, Ahmet Nayir, James W. MacDonald, Pawaree Saisawat, Erica E. Davis, Clementine Fu, Rannar Airik, Nikola Jeck, Peter Nürnberg, Gunther Klaus, Shawn Levy, Shazia Ashraf, Friedhelm Hildebrandt, Gudrun Nürnberg, Virginia Vega-Warner, Massimo Attanasio, Katrina A. Diaz, Humphrey Fang, Dorota Drozdz, Edgar A. Otto, Udo Vester, Ibrahim Al Attrach, Moumita Chaki, Ibrahim Al Hassoun, Weibin Zhou, Sabine Janssen, Andrew Cluckey, Susan J. Allen, Nicholas Katsanis, Gokul Ramaswami, Heon Yung Gee, Hanan M. Fathy, Udo Helmchen, Stefanie Weber, Stefan Kohl, Jamie L. Innis
المصدر: Gee, H Y, Otto, E A, Hurd, T W, Ashraf, S, Chaki, M, Cluckey, A, Vega-Warner, V, Saisawat, P, Diaz, K A, Fang, H, Kohl, S, Allen, S J, Airik, R, Zhou, W, Ramaswami, G, Janssen, S, Fu, C, Innis, J L, Weber, S, Vester, U, Davis, E E, Katsanis, N, Fathy, H M, Jeck, N, Klaus, G, Nayir, A, Rahim, K A, Attrach, I A, Hassoun, I A, Ozturk, S, Drozdz, D, Helmchen, U, O'Toole, J F, Attanasio, M, Lewis, R A, Nürnberg, G, Nürnberg, P, Washburn, J, Macdonald, J, Innis, J W, Levy, S & Hildebrandt, F 2013, ' Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies ', Kidney International . https://doi.org/10.1038/ki.2013.450
Kidney International; Vol 85
Kidney internationalمصطلحات موضوعية: Adult, Male, kidney, Adolescent, DNA Mutational Analysis, 030232 urology & nephrology, Medizin, Genes, Recessive, Disease, Biology, Bioinformatics, Ciliopathies, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Exome, Genetic Testing, 030304 developmental biology, Genetic testing, Cystic kidney, Genetics, 0303 health sciences, medicine.diagnostic_test, Infant, Kidney Diseases, Cystic, medicine.disease, Disease gene identification, 3. Good health, Ciliopathy, Early Diagnosis, Phenotype, Nephrology, Mutation, Kidney disease
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::542250aee492e573e845add2a8319913
https://ruj.uj.edu.pl/xmlui/handle/item/132467 -
9
المؤلفون: Friedhelm Hildebrandt, Virginia Vega-Warner, Heon Yung Gee, Emine Korkmaz, Joseph Washburn, David S. Williams, Julian Esteve-Rudd, Weibin Zhou, Sevcan A. Bakkaloglu, Svjetlana Lovric, Shazia Ashraf, Humphrey Fang, Xiaoyang Wan, Carolin E. Sadowski, Anna Zolotnitskaya, Edgar A. Otto, Fatih Ozaltin, Shawn Levy, Toby W. Hurd, Susan J. Allen
المصدر: American journal of human genetics, vol 94, iss 6
مصطلحات موضوعية: Nephrotic Syndrome, Kidney Disease, Caveolin 1, Kidney, medicine.disease_cause, Medical and Health Sciences, Kidney Failure, 2.1 Biological and endogenous factors, Genetics(clinical), Chronic, Aetiology, Child, Zebrafish, Genetics (clinical), Genetics & Heredity, Genetics, Mutation, Gene knockdown, Membrane Glycoproteins, Homozygote, Chromosome Mapping, Biological Sciences, Disease gene identification, 3. Good health, Child, Preschool, symbols, Biotechnology, Renal and urogenital, Biology, symbols.namesake, Report, medicine, Animals, Humans, Allele, Preschool, Gene, Alleles, Cell Proliferation, Genetic heterogeneity, Endothelial Cells, Infant, medicine.disease, Gene Expression Regulation, Genetic Loci, Cancer research, Mendelian inheritance, Kidney Failure, Chronic, Nephrotic syndrome
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a5d23ab5ffa90f16cacd548286f7d0b
https://aperta.ulakbim.gov.tr/record/65183 -
10
المؤلفون: Daniel C. Cattran, Andrew D. Paterson, Holger Prokisch, Shawn Levy, Julian Esteve-Rudd, Birgit Haberberger, Mohamed H Al-Hamed, Weibin Zhou, Catherine F. Clarke, Humphrey Fang, Pierre Cochat, Robert Kleta, Susan J. Allen, Sherif El Desoky, Faysal Gok, Xuewen Song, Richard P. Lifton, Corinne Antignac, Moumita Barua, Friedhelm Hildebrandt, Carmen Avila-Casado, Agnieszka Bierzynska, David S. Williams, Detlef Bockenhauer, Duygu Övünç Hacıhamdioğlu, Roger C. Wiggins, Svjetlana Lovric, Jameela A. Kari, Shazia Ashraf, Edgar A. Otto, Martin R. Pollak, Rannar Airik, Heon Yung Gee, Letian X. Xie, Virginia Vega-Warner, Moin A. Saleem, Zhe Han, Murim Choi, York Pei, Joseph Washburn, Jonathan Evans, Christine Bole-Feysot, Patrick Nitschké, Stéphanie Woerner, Leonardo Salviati
المصدر: The Journal of clinical investigation, vol 123, iss 12
J. Clin. Invest. 123, 5179-5189 (2013)مصطلحات موضوعية: Nephrotic Syndrome, Ubiquinone, DNA Mutational Analysis, Drug Resistance, Sequence Homology, medicine.disease_cause, Medical and Health Sciences, Podocyte, Consanguinity, Adrenal Cortex Hormones, COQ6, 2.1 Biological and endogenous factors, Drosophila Proteins, Exome, Adolescent, Amino Acid Sequence, Animals, Cells, Cultured, Child, Conserved Sequence, Disease Models, Animal, Fibroblasts, Gene Knockdown Techniques, Humans, Mitochondria, Molecular Sequence Data, Mutation, Podocytes, Protein Kinases, Rats, Sequence Alignment, Sequence Homology, Amino Acid, Young Adult, Zebrafish, Zebrafish Proteins, Aetiology, Gene knockdown, Cultured, food and beverages, General Medicine, Respiratory enzyme, Amino Acid, medicine.anatomical_structure, Cells, Immunology, Renal and urogenital, Biology, Frameshift mutation, Clinical Research, Complementary and Integrative Health, Genetics, medicine, Animal, Molecular biology, Steroid-resistant nephrotic syndrome, Disease Models, Commentary, ADCK3
وصف الملف: application/pdf
Full Text Finder