نتائج البحث

1

Ciliary exclusion of Polycystin-2 promotes kidney cystogenesis in an autosomal dominant polycystic kidney disease model

المؤلفون: Vrinda Sreekumar, Rebecca V Walker, Martin M. Knight, Jennifer L. Keynton, Christopher T. Esapa, Debbie Williams, Daniel T. Grimes, Dongsheng Wu, Dominic P. Norris

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Male, Glycosylation, Mutant, General Physics and Astronomy, 02 engineering and technology, TRPP, Kidney, urologic and male genital diseases, lcsh:Science, education.field_of_study, Multidisciplinary, Cilium, Medical genetics, 021001 nanoscience & nanotechnology, Polycystic Kidney, Autosomal Dominant, female genital diseases and pregnancy complications, Cell biology, Polycystin 2, medicine.anatomical_structure, Female, 0210 nano-technology, endocrine system, TRPP Cation Channels, Science, Autosomal dominant polycystic kidney disease, Biology, Development, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, medicine, Animals, Humans, Cilia, RNA, Messenger, education, Ciliogenesis, Disease model, urogenital system, General Chemistry, Fibroblasts, medicine.disease, Embryo, Mammalian, Embryonic stem cell, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Mutation, lcsh:Q, Ciliary base

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::291a3e862dc347d42b6d863e0bee35a5Test
http://link.springer.com/article/10.1038/s41467-019-12067-yTest

2

دورية أكاديمية

MTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex

المؤلفون: M. Pema, L. Drusian, M. Chiaravalli, M. Castelli, Q. Yao, S. Ricciardi, S. Somlo, F. Qian, A. Boletta, S. Biffo

المساهمون: M. Pema, L. Drusian, M. Chiaravalli, M. Castelli, Q. Yao, S. Ricciardi, S. Somlo, F. Qian, S. Biffo, A. Boletta

مصطلحات موضوعية: animal, cilia, cyst, down-regulation, gene expression regulation, gene silencing, mice, multiprotein complexe, polycystic kidney disease, sirolimu, TOR serine-threonine kinase, TRPP cation channel, tuberous sclerosi, up-regulation, biochemistry, genetics and molecular biology (all), chemistry (all), physics and astronomy (all), Settore BIO/06 - Anatomia Comparata e Citologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26931735; info:eu-repo/semantics/altIdentifier/wos/WOS:000371709000001; volume:7; firstpage:1; lastpage:11; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/2434/492807Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84960193038

الإتاحة: https://doi.org/10.1038/ncomms10786Test
http://hdl.handle.net/2434/492807Test

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3

Polycystin 2 is increased in disease to protect against stress-induced cell death

المؤلفون: Marie E. Robert, Stuart G. Campbell, Allison L. Brill, Parker C. Wilson, Arnaud Marlier, Gilbert W. Moeckel, Tom T. Fischer, Hee Jung Chung, Jeanne M. Nerbonne, Barbara E. Ehrlich, Eric K. Johnson, Lorenzo R. Sewanan, Jennifer M. Walters, Lloyd G. Cantley

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Scientific Reports

مصطلحات موضوعية: Male, Cell biology, Programmed cell death, endocrine system, TRPP Cation Channels, Heart Diseases, Physiology, Cell, Autosomal dominant polycystic kidney disease, Cellular homeostasis, lcsh:Medicine, Biology, Endoplasmic Reticulum, Protective Agents, Article, Mice, 03 medical and health sciences, Transient receptor potential channel, 0302 clinical medicine, Non-alcoholic Fatty Liver Disease, medicine, Animals, Homeostasis, Humans, education, lcsh:Science, 030304 developmental biology, 0303 health sciences, education.field_of_study, Multidisciplinary, Cell Death, Endoplasmic reticulum, Cilium, lcsh:R, Acute Kidney Injury, medicine.disease, 3. Good health, Mice, Inbred C57BL, Oxidative Stress, Polycystin 2, medicine.anatomical_structure, Reperfusion Injury, Mutation, Calcium, lcsh:Q, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b747ce23c14f22338c67c7d8c189d82cTest
http://link.springer.com/article/10.1038/s41598-019-57286-xTest

4

Analysis of the polycystin complex (PCC) in human urinary exosome–like vesicles (ELVs)

المؤلفون: Wendy A. Lea, M. Cristine Charlesworth, Marie C. Hogan, Lesya Zelenchuk, Kenneth L. Johnson, Stephen C. Parnell, Benjamin J. Madden, Madhulika Sharma, Christopher J. Ward, Kerri McGreal, Daniel J. McCormick

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da0431e0ab4ac7de3628e3a278425adbTest
http://link.springer.com/article/10.1038/s41598-020-58087-3Test

5

Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing

المؤلفون: Yun Kyu Oh, Hyunsuk Kim, Nayoung K.D. Kim, Hyunho Kim, Kyu Beck Lee, Hyun Seob Lee, Woong-Yang Park, Hyunjin Ryu, Hayne Cho Park, Young Hwan Hwang, Chung Lee, Curie Ahn, Jongho Heo, Kook Hwan Oh

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, 030232 urology & nephrology, lcsh:Medicine, Disease, urologic and male genital diseases, 0302 clinical medicine, Mutation Rate, Genotype, Medicine, Exome, Prospective Studies, lcsh:Science, Exome sequencing, Sanger sequencing, Multidisciplinary, Disease genetics, Incidence, Middle Aged, Polycystic Kidney, Autosomal Dominant, female genital diseases and pregnancy complications, symbols, Female, Glomerular Filtration Rate, Adult, medicine.medical_specialty, TRPP Cation Channels, Autosomal dominant polycystic kidney disease, Renal function, Article, 03 medical and health sciences, symbols.namesake, Asian People, Polycystic kidney disease, Internal medicine, Republic of Korea, Humans, Author Correction, Genotyping, PKD1, business.industry, urogenital system, lcsh:R, medicine.disease, 030104 developmental biology, Mutation, Kidney Failure, Chronic, lcsh:Q, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afbf2704c6d28cbb517a76a0af06f090Test
http://link.springer.com/article/10.1038/s41598-019-52474-1Test

6

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

المؤلفون: Naser Hussain, Hamad Ali, Peter C. Harris, Mohamed Abu-Farha, Ashraf Al Madhoun, Jehad Abubaker, Medhat Naim, Sajjad Ahmad, Fahd Al-Mulla, Ali AlSahow, Akram M. Asbeutah

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Male, TRPP Cation Channels, Pseudogene, Autosomal dominant polycystic kidney disease, lcsh:Medicine, Biology, urologic and male genital diseases, DNA sequencing, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Gene Duplication, Gene duplication, medicine, Humans, Genetic Testing, lcsh:Science, Exome sequencing, Genetics, Whole genome sequencing, Sanger sequencing, Multidisciplinary, PKD1, Whole Genome Sequencing, urogenital system, lcsh:R, medicine.disease, Polycystic Kidney, Autosomal Dominant, female genital diseases and pregnancy complications, Pedigree, 030104 developmental biology, Mutation, symbols, Female, lcsh:Q, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a97c932252af32c6f3ceef92a13f50eTest
http://link.springer.com/article/10.1038/s41598-019-40761-wTest

7

Next-generation sequencing for research and diagnostics in kidney disease

المصدر: Nature Reviews Nephrology. 10(8):433-444

مصطلحات موضوعية: High-Throughput Nucleotide Sequencing/methods, Incidental Findings, Kidney/abnormalities, Signal Transducing/genetics, Vesico-Ureteral Reflux/genetics, Adaptor Proteins, Chronic/diagnosis, Disclosure/ethics, Urinary Tract/abnormalities, Urogenital Abnormalities, Cystic/genetics, Animals, Humans, Polycystic Kidney, TRPP Cation Channels/genetics, Kidney Diseases, Renal Insufficiency, Membrane Proteins/genetics, Autosomal Dominant/genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dris___01423::e3b38bc72a30d5b08300ae00b9a02846Test
https://research.rug.nl/en/publications/09a816b5-712a-4f3d-9c00-a9ee385ae568Test

8

A Conditional Knockout Mouse Model Reveals a Critical Role of PKD1 in Osteoblast Differentiation and Bone Development

المؤلفون: Q. Jane Wang, Shao Li, Liping Chen, Fan Deng, Ruonan Gu, Jiabi Qian, Wanfu Xu, Yaodong Wang, Wenjing Guo, Xiaoju Lai, Wanlu Zhao, Zhe Xing, Songyu Li

المصدر: Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, STAT3 Transcription Factor, TRPP Cation Channels, MAP Kinase Signaling System, Cellular differentiation, urologic and male genital diseases, p38 Mitogen-Activated Protein Kinases, Article, Cell Line, 03 medical and health sciences, Downregulation and upregulation, Conditional gene knockout, medicine, Animals, Femur, STAT3, Janus Kinases, Mice, Knockout, Multidisciplinary, Bone Development, Osteoblasts, 030102 biochemistry & molecular biology, biology, Kinase, Osteoblast, Cell Differentiation, Organ Size, X-Ray Microtomography, female genital diseases and pregnancy complications, Cell biology, RUNX2, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, Animals, Newborn, Organ Specificity, embryonic structures, Models, Animal, biology.protein, Janus kinase, Biomarkers, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0f4a59fe378a35c40ab7d524acbcfadTest

9

The serologically defined colon cancer antigen-3 (SDCCAG3) is involved in the regulation of ciliogenesis

المؤلفون: Fangyan Yu, Kai S. Erdmann, Agnieszka Skowronek, Shruti Sharma

المصدر: Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, TRPP Cation Channels, Endosome, Green Fluorescent Proteins, Vesicular Transport Proteins, Endosomes, Biology, Ciliopathies, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Protein Domains, Antigens, Neoplasm, Intraflagellar transport, Ciliogenesis, Animals, Humans, Basal body, Cilia, Kidney Tubules, Collecting, RNA, Small Interfering, Binding Sites, Microscopy, Confocal, Multidisciplinary, Tumor Suppressor Proteins, Cilium, Intracellular Signaling Peptides and Proteins, Transport protein, Cell biology, Gene Expression Regulation, Neoplastic, Protein Transport, HEK293 Cells, 030104 developmental biology, 030217 neurology & neurosurgery, Intraciliary transport, HeLa Cells, Signal Transduction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffad2758caab424aa92b69c17db1561fTest

10

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

المؤلفون: Alessandra Boletta, Piergiorgio Messa, Stefania Stenirri, Paolo Manunta, Francesca Rigo, Johan T. den Dunnen, Francesca Testa, Silvia Calzavara, Riccardo Magistroni, Francesco Scolari, Maria Teresa Sciarrone Alibrandi, Susanna Negrisolo, Alberto Edefonti, Elisa Benetti, Maurizio Ferrari, Paola Carrera, Claudia Izzi, Roberta Cerutti

المساهمون: Carrera, Paola, Calzavara, Silvia, Magistroni, Riccardo, Den Dunnen, Johan T., Rigo, Francesca, Stenirri, Stefania, Testa, Francesca, Messa, Piergiorgio, Cerutti, Roberta, Scolari, Francesco, Izzi, Claudia, Edefonti, Alberto, Negrisolo, Susanna, Benetti, Elisa, Alibrandi, Maria Teresa Sciarrone, Manunta, Paolo, Boletta, Alessandra, Ferrari, Maurizio

المصدر: Scientific Reports
Scientific Reports, 6

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, medicine.medical_specialty, TRPP Cation Channels, Adolescent, Genetic counseling, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, Mutation, Missense, Biology, Kidney, urologic and male genital diseases, Article, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Gene Frequency, Internal medicine, medicine, Polycystic kidney disease, Humans, Allele frequency, Alleles, Genetics, Polymorphism, Genetic, Multidisciplinary, PKD1, Base Sequence, urogenital system, Retrospective cohort study, Middle Aged, medicine.disease, Polycystic Kidney, Autosomal Dominant, Magnetic Resonance Imaging, female genital diseases and pregnancy complications, Pedigree, 030104 developmental biology, Italy, Allelic heterogeneity, Female, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3b64268e4c1c2e2a6ddcf1adaadb01eTest

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