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1دورية أكاديمية
المؤلفون: Xuanjin Du, Chunyan Wang, Jialu Liu, Minghui Yu, Haixin Ju, Shanshan Xue, Yaxin Li, Jiaojiao Liu, Rufeng Dai, Jing Chen, Yihui Zhai, Jia Rao, Xiang Wang, Yubo Sun, Lei Sun, Xiaohui Wu, Hong Xu, Qian Shen
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-14 (2024)
مصطلحات موضوعية: Congenital anomalies of the kidney and urinary tract (CAKUT), GEN1 Holliday junction 5' flap endonuclease, Point-mutant mouse model, Human, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1479-7364
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2دورية أكاديمية
المؤلفون: Qianying Lv, Xinli Han, Jiajia Ni, Qianqian Ma, Rufeng Dai, Jiaojiao Liu, Jialu Liu, Yihui Zhai, Qian Shen, Li Sun, Haimei Liu, Jia Rao, Hong Xu
المصدر: Cell Death and Disease, Vol 13, Iss 10, Pp 1-13 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-4889
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3دورية أكاديمية
المؤلفون: Chen-Han Wilfred Wu, Tze Y. Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum, Sophia Schneider, Nina Mann, Dervla M. Connaughton, Makiko Nakayama, Amelie T. van der Ven, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Natasa Stajic, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan M. Fathy, Danko Milosevic, Daniel Turudic, Muna Al Saffar, Hazem S. Awad, Loai A. Eid, Aravind Ramanathan, Prabha Senguttuvan, Shrikant M. Mane, Richard S. Lee, Stuart B. Bauer, Weining Lu, Alina C. Hilger, Velibor Tasic, Shirlee Shril, Simone Sanna-Cherchi, Friedhelm Hildebrandt
المصدر: European Urology Open Science, Vol 44, Iss , Pp 106-112 (2022)
مصطلحات موضوعية: Congenital anomalies of the kidney and urinary tract, Vesicoureteral reflux, Copy number variation, Whole-exome sequencing, Monogenic disease causation, Renal developmental, Diseases of the genitourinary system. Urology, RC870-923, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Fujie Wen, Junchao Liu, Rufeng Dai, Sha Hong, Baowei Ji, Jiaojiao Liu, Jun Zhang, Xinli Han, Qianying Lv, Jialu Liu, Qian Shen, Hong Xu
المصدر: Frontiers in Pediatrics, Vol 11 (2023)
مصطلحات موضوعية: angiopoietin-like protein 3, nephrotic syndrome, biomarker, proteinuria, children, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Rufeng Dai, Haimei Liu, Xinli Han, Junchao Liu, Yihui Zhai, Jia Rao, Qian Shen, Hong Xu
المصدر: BMC Nephrology, Vol 20, Iss 1, Pp 1-11 (2019)
مصطلحات موضوعية: Angiopoietin-like-3 knockout, Glomerulosclerosis, Podocyte loss, Adriamycin-induced nephropathy, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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المؤلفون: Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M.P. Zegers, Friedhelm Hildebrandt
المصدر: Journal of the American Society of Nephrology, 34, 2, pp. 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290مصطلحات موضوعية: urinary tract, ALPHA-PIX, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], MUTATIONS, Biology and Life Sciences, General Medicine, monogenic kidney disease, REGULATES BRANCHING MORPHOGENESIS, SEQUENCE, pediatric, All institutes and research themes of the Radboud University Medical Center, Nephrology, NUCLEOTIDE EXCHANGE FACTORS, EXTRACELLULAR-MATRIX, INBRED MOUSE, INTEGRIN-LINKED KINASE, PROTEIN NEPHRONECTIN, MDCK CELL-CULTURE, development, CAKUT
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4439761a65e0ca2ac0685948bb12003
https://repository.ubn.ru.nl/handle/2066/290858 -
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المؤلفون: Chunyan Wang, Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu, Camille Nicolas‐Frank, Kirollos Yousef, Kit Sing Au, Nina Mann, Dalia Pantel, Sophia Schneider, Luca Schierbaum, Thomas M. Kitzler, Dervla M. Connaughton, Youying Mao, Rufeng Dai, Makiko Nakayama, Jameela A. Kari, Sherif El Desoky, Mohammed Shalaby, Loai A. Eid, Hazem S. Awad, Velibor Tasic, Shrikant M. Mane, Richard P. Lifton, Michelle A. Baum, Shirlee Shril, Carlos R. Estrada, Friedhelm Hildebrandt
المصدر: Am J Med Genet A
مصطلحات موضوعية: Disease Models, Animal, Mice, Exome Sequencing, Genetics, Animals, Humans, Exome, Spinal Dysraphism, Article, Genetics (clinical)
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المؤلفون: Danielle J. Owen, David FitzPatrick, Nina Mann, Stuart B. Bauer, Ilona Krey, Heather C Mefford, Jacob Zyskind, Roger Fick, Ana C. Onuchic-Whitford, Floor A. M. Duijkers, Etienne Coyaud, Simon E. Fisher, Juliann M. Savatt, Richard P. Lifton, Isabel Ottlewski, Amelie T. van der Ven, Peter J. Hulick, Nancy Rodig, Michelle A. Baum, Marielle Alders, Elysa J. Marco, Konrad Platzer, Ghaleb Daouk, Hadas Ityel, Eva H. Brilstra, Ian A. Glass, Heiko Reutter, Adda L. Graham-Paquin, Makiko Nakayama, Michael A. J. Ferguson, Amy Kolb, Weining Lu, Florian Buerger, Prabha Senguttuvan, Marcia Ferguson, Ronen Schneider, Isabelle Thiffault, Hila Milo Rasouly, Verena Klämbt, Tobias Bartolomaeus, Evan Chen, Mao Youying, Amar J. Majmundar, Jia Rao, Carrie Costin, Dina Ahram, Ali G. Gharavi, Lot Snijders Blok, Avram Z. Traum, Franziska Kause, Konstantin Deutsch, Arianna Vino, Dervla M. Connaughton, Antonie D. Kline, Deborah R. Stein, Daanya Salmanullah, Maxime Bouchard, Estelle M.N. Laurent, Audrey Squire, Daniel G. MacArthur, Kristen M. Laricchia, Asaf Vivante, Thomas M. Kitzler, Jonathan St-Germain, Brian Raught, Heidi L. Rehm, Ellen van Binsbergen, Chen Han Wilfred Wu, Caroline M. Kolvenbach, Monkol Lek, Selvin Kumar, Jing Chen, Mustafa K. Khokha, Ankana Daga, Hong Xu, Andrew D. Sharrocks, N. V. Shcherbakova, Simone Sanna-Cherchi, Inna S. Povolotskaya, Tze Y Lim, Johanna M. Rieke, Katrina M. Dipple, Gabriel C. Dworschak, Michael J. Somers, Tobias Hermle, Stefan Kohl, Steve Seltzsam, Victoria Y. Voinova, Shirlee Shril, Ingrid M. Wentzensen, Daw Yang Hwang, Velibor Tasic, Shrikant Mane, Jonathan Marquez, Friedhelm Hildebrandt, Rufeng Dai, Paulien A Terhal, Loai A. Eid, Thomas D. Challman
المساهمون: Boston Children's Hospital, Harvard Medical School [Boston] (HMS), University of Western Ontario (UWO), Fudan University [Shanghai], University of Manchester [Manchester], Yale University [New Haven], McGill University = Université McGill [Montréal, Canada], Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U 1192 (PRISM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University Health Network, University of Toronto, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Donders Institute for Brain, Cognition and Behaviour, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], Brigham & Women’s Hospital [Boston] (BWH), Tel Aviv University (TAU), University of Amsterdam [Amsterdam] (UvA), Universität Leipzig, University Medical Center [Utrecht], Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), GeneDx [Gaithersburg, MD, USA], University of Akron, University of Washington [Seattle], William Harvey Research Institute, Barts and the London Medical School, University of Edinburgh, Mary Bridge Childrens Hospital [Tacoma, WA, USA], NorthShore University HealthSystem [Evanston, IL, USA], Institute of Child Health [Tamil Nadu, India] (Hospital for Children), Boston University [Boston] (BU), Cortica Healthcare [San Rafael, CA, USA], Moscow Medical Institute of Health Ministry [Moscow, Russia], Pirogov Russian National Research Medical University, Dr. Mehta's Hospitals [Tamil Nadu, India], Seattle Children’s Hospital, Children's Mercy Hospital [Kansas City], University of Missouri [Kansas City] (UMKC), University of Missouri System, Neuro Spinal Hospital [Dubai, UAE], University Children’s Hospital [Skopje, Macédoine], Columbia University [New York], University Hospital Bonn, Massachusetts General Hospital [Boston], Rockefeller University [New York], Yale School of Medicine [New Haven, Connecticut] (YSM), Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Radboud university [Nijmegen], Tel Aviv University [Tel Aviv], Universität Leipzig [Leipzig], Pirogov Russian National Research Medical University [Moscow, Russia], Yale University School of Medicine, INSERM, Université de Lille, Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U1192, SALZET, Michel
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
American journal of human genetics, 107(4), 727-742. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107, 4, pp. 727-742
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 727-742مصطلحات موضوعية: 0301 basic medicine, Male, Morpholino, Xenopus, 030232 urology & nephrology, Endogenous retrovirus, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], transcription regulator, Interactome, Epigenesis, Genetic, Morpholinos, Pathogenesis, ZNF198, Mice, 0302 clinical medicine, whole-exome sequencing, Child, Urinary Tract, Genetics (clinical), Exome sequencing, Genetics, Mice, Knockout, ZMYM2, genetic kidney disease, Forkhead Transcription Factors, FOXP1, 3. Good health, Pedigree, extra-renal features, DNA-Binding Proteins, Child, Preschool, Larva, syndromic CAKUT, Female, Protein Binding, Neuroinformatics, Heterozygote, Biology, Article, Amphibian Proteins, 03 medical and health sciences, Exome Sequencing, [SDV.BC.BC] Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Gene silencing, Animals, Humans, Family, Transcription factor, FIM, Infant, Repressor Proteins, 030104 developmental biology, genomic analysis, Case-Control Studies, Urogenital Abnormalities, congenital anomalies of the kidney and urinary tract, Mutation, Transcription Factors
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; application/octet-stream
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0bcf100f3cbcb4de0590d4409d43436
http://www.scopus.com/inward/record.url?scp=85091260805&partnerID=8YFLogxK -
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المؤلفون: Toshimitsu Kawate, Amar J. Majmundar, Dervla M. Connaughton, Amelie T. van der Ven, Rufeng Dai, Jameela A. Kari, Caroline M. Kolvenbach, Madeleine J. Tooley, Mohamed A. Shalaby, Ryan E. Hibbs, Erik Henze, Shirlee Shril, Jing Chen, Sherif El Desoky, Nina Mann, Stuart B. Bauer, Lucy Bownass, Hadas Ityel, Richard P. Lifton, Makiko Nakayama, Velibor Tasic, Shrikant Mane, Chen Han W. Wu, Jonathan M. Beckel, Heiko Reutter, Verena Klämbt, Sian Ellard, Weiqun Yu, Franziska Kause, Friedhelm Hildebrandt, Elisa De Franco, Anant Gharpure, Richard S. Lee
المصدر: Am J Hum Genet
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Urinary system, 030232 urology & nephrology, Receptors, Nicotinic, Kidney, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Report, Internal medicine, Genetics, medicine, Humans, Urinary Tract, Genetics (clinical), Upper urinary tract, Acetylcholine receptor, business.industry, Dysautonomia, Prognosis, medicine.disease, Pedigree, Nicotinic acetylcholine receptor, 030104 developmental biology, Endocrinology, Nicotinic agonist, Autonomic Nervous System Diseases, Urogenital Abnormalities, Mutation, Female, medicine.symptom, business, Urinary tract obstruction, Acetylcholine, Follow-Up Studies, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f31481546f97714ed445c35c16af3487
https://doi.org/10.1016/j.ajhg.2019.10.004 -
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المؤلفون: Nina Mann, Stuart B. Bauer, Chunyan Wang, Velibor Tasic, Shrikant Mane, Dervla M. Connaughton, Chen-Han Wilfred Wu, Luca Schierbaum, Natasa Stajic, Friedhelm Hildebrandt, Bixia Zheng, Makiko Nakayama, Sophia Schneider, Steve Seltzsam, Rufeng Dai, Hyun Joo Nam, Shirlee Shril
المصدر: Nephrol Dial Transplant
مصطلحات موضوعية: Genetics, Forkhead Box Protein L2, Vesico-Ureteral Reflux, Transplantation, Candidate gene, business.industry, Horseshoe kidney, medicine.disease, Kidney, Nephrology, Urogenital Abnormalities, Exome Sequencing, medicine, Hepatocyte Nuclear Factor 3-beta, Missense mutation, Gene family, Humans, FOXA3, Original Article, FOXA2, business, Urinary Tract, Gene, Exome sequencing, Hepatocyte Nuclear Factor 3-gamma
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c068896b28cd558f83882cf639fe18bc
https://europepmc.org/articles/PMC9755999/