المؤلفون: Othman R. Alzahrani, Hanan E. Alatwi, Amnah A. Alharbi, Abdulrahman H. Alessa, Osama M. Al-Amer, Abeer F. R. Alanazi, Anwar M. Shams, Esra’a Alomari, Abdallah Y. Naser, Faisal a. Alzahrani, Salman Hosawi, Saeed M. Alghamdi, Wed A. Abdali, Imadeldin Elfaki, Yousef M. Hawsawi

المصدر: Medicina; Volume 58; Issue 11; Pages: 1657

مصطلحات موضوعية: Adult, TRPP Cation Channels, Mutation, Exome Sequencing, Saudi Arabia, Humans, Kidney Failure, Chronic, Membrane Proteins, General Medicine, whole-exome sequencing, autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), polycystin-1-polycystin-2 PKD1, PKD2, end-stage renal disease ESRD, Renal Insufficiency, Chronic, Polycystic Kidney, Autosomal Dominant, 3' Untranslated Regions

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd7c334c3ae47a8251a7b0574260a172Test

المؤلفون: Dominique J. McConnachie, Andrew Mallett, Jennifer L. Stow

المصدر: American Journal of Kidney Diseases. 77:410-419

مصطلحات موضوعية: TRPP Cation Channels, Chaperonins, Leber Congenital Amaurosis, 030232 urology & nephrology, Bioinformatics, Kidney cysts, Ciliopathies, Retina, 03 medical and health sciences, 0302 clinical medicine, Optic Atrophies, Hereditary, Nephronophthisis, Cerebellum, Ciliogenesis, medicine, Polycystic kidney disease, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, 030212 general & internal medicine, Bardet-Biedl Syndrome, Adaptor Proteins, Signal Transducing, Encephalocele, Polycystic Kidney Diseases, Kidney, business.industry, Cilium, Membrane Proteins, Proteins, Kidney Diseases, Cystic, medicine.disease, Transplantation, Adaptor Proteins, Vesicular Transport, Cytoskeletal Proteins, medicine.anatomical_structure, Nephrology, medicine.symptom, business, Microtubule-Associated Proteins, Retinitis Pigmentosa, Ciliary Motility Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a883dea8b13665a5a8c00afd5887d4a9Test
https://doi.org/10.1053/j.ajkd.2020.08.012Test

المؤلفون: Desheng Liang, Lanlan Zeng, Nana Liang, Lingqian Wu, Xuanyu Jiang, Zhuo Li

المصدر: Clinica Chimica Acta. 501:207-215

مصطلحات موضوعية: Adult, Cytoplasmic Dyneins, Male, 0301 basic medicine, China, TRPP Cation Channels, DNA Mutational Analysis, Clinical Biochemistry, Autosomal dominant polycystic kidney disease, Receptors, Cell Surface, Compound heterozygosity, medicine.disease_cause, Biochemistry, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Nephronophthisis, medicine, Humans, Missense mutation, Renal Insufficiency, Genetics, Mutation, PKD1, urogenital system, business.industry, Biochemistry (medical), High-Throughput Nucleotide Sequencing, Infant, Membrane Proteins, General Medicine, Kidney Diseases, Cystic, Middle Aged, medicine.disease, Ciliopathy, Phenotype, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, Female, Kidney disorder, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9e5775af157a06d906297fec6346918Test
https://doi.org/10.1016/j.cca.2019.10.040Test

المؤلفون: Natalia Torrealba, Carolina Fernández, Camila López-Crisosto, César Vásquez-Trincado, Valeria Garrido-Moreno, Sergio Lavandero, Francisco Altamirano, María Paz Ocaranza, Raúl Flores-Vergara, Zully Pedrozo, Mario Chiong

المصدر: PLoS ONE, Vol 16, Iss 8, p e0255452 (2021)
PLoS ONE

مصطلحات موضوعية: medicine.medical_treatment, Peptide Hormones, Cell Membranes, urologic and male genital diseases, Biochemistry, Tyrosine Kinases, Brain Natriuretic Peptide, Insulin-like growth factor, Aromatic Amino Acids, Animal Cells, Medicine and Health Sciences, Myocytes, Cardiac, Tyrosine, Amino Acids, Post-Translational Modification, Phosphorylation, Insulin-Like Growth Factor I, Cardiomyocytes, Gene knockdown, Multidisciplinary, Chemistry, Organic Compounds, Small interfering RNA, female genital diseases and pregnancy complications, Cell biology, Enzymes, Nucleic acids, Physical Sciences, embryonic structures, Medicine, Cellular Types, Anatomy, Cellular Structures and Organelles, Tyrosine kinase, Research Article, Signal Transduction, TRPP Cation Channels, Science, Phosphatase, Muscle Tissue, Cardiomegaly, Natriuretic Peptide, Hydroxyl Amino Acids, medicine, Genetics, Animals, Non-coding RNA, Protein kinase B, Pressure overload, Muscle Cells, urogenital system, Organic Chemistry, Phosphatases, Chemical Compounds, Biology and Life Sciences, Proteins, Membrane Proteins, Cell Biology, Hormones, Gene regulation, Biological Tissue, Enzymology, RNA, Gene expression, Protein Kinases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f14350cdaf45f8ba942565656ad78d77Test
https://doaj.org/article/282852eddbe64e25877af76197d62e17Test

المؤلفون: Aya, Miura, Hidehito, Kondo, Takuma, Yamamoto, Yasuko, Okumura, Hajime, Nishio

المصدر: International heart journal. 61(5)

مصطلحات موضوعية: Cardiomyopathy, Dilated, Heart Failure, Heterozygote, TRPP Cation Channels, Myocardium, Infant, Membrane Proteins, Mitral Valve Insufficiency, Muscle Proteins, Polycystic Kidney, Autosomal Dominant, Peptide Fragments, Death, Sudden, Cardiac, Fatal Outcome, Natriuretic Peptide, Brain, Humans, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::0acc5976d7265ed8b8c79160b6af1de1Test
https://pubmed.ncbi.nlm.nih.gov/32879264Test

المؤلفون: Richard Sandford

المصدر: J Am Soc Nephrol

مصطلحات موضوعية: Genetics, TRPP Cation Channels, business.industry, Cysts, Membrane Proteins, General Medicine, Mannosyltransferases, Polycystic kidney, Polycystic Kidney, Autosomal Dominant, Human genetics, Basic Research, Membrane protein, Nephrology, Up Front Matters, Mutation (genetic algorithm), Mutation, Medicine, Humans, business, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47102f933527c7d9a085b3b161ae369eTest
https://pubmed.ncbi.nlm.nih.gov/31395617Test

المؤلفون: Peter C. Harris, Emilie Cornec-Le Gall, Vicente E. Torres

المصدر: Journal of the American Society of Nephrology. 29:13-23

مصطلحات موضوعية: 0301 basic medicine, TRPP Cation Channels, 030232 urology & nephrology, Disease, urologic and male genital diseases, Bioinformatics, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, SEC63, Up Front Matters, Genotype, Polycystic kidney disease, Humans, Medicine, Genetic Testing, Allele, Alleles, Cystic kidney, PKD1, Cysts, business.industry, PRKCSH, Liver Diseases, Calcium-Binding Proteins, Intracellular Signaling Peptides and Proteins, Membrane Proteins, RNA-Binding Proteins, General Medicine, Polycystic Kidney, Autosomal Dominant, Prognosis, medicine.disease, female genital diseases and pregnancy complications, Low Density Lipoprotein Receptor-Related Protein-5, Phenotype, 030104 developmental biology, Molecular Diagnostic Techniques, Glucosyltransferases, Nephrology, Mutation, business, Glucosidases, SEC Translocation Channels, Molecular Chaperones

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8e6a2a6da4f7c031001f34b0e98d818Test
https://doi.org/10.1681/asn.2017050483Test

المؤلفون: Q. Jane Wang, Zhenlong Zhao, Shuping Xu, Courtney R. LaValle, Liyong Zhang, Manuj Tandon, Fan Deng

المصدر: Oncotarget

مصطلحات موضوعية: Male, 0301 basic medicine, MAPK/ERK pathway, protein kinase D1, medicine.medical_specialty, TRPP Cation Channels, medicine.drug_class, Fibroblast Growth Factor Receptor Substrate 2, Blotting, Western, androgen, Real-Time Polymerase Chain Reaction, urologic and male genital diseases, 03 medical and health sciences, Prostate cancer, 0302 clinical medicine, Downregulation and upregulation, androgen receptor, Cell Line, Tumor, Internal medicine, medicine, Humans, Adaptor Proteins, Signal Transducing, androgen-repressed genes, urogenital system, business.industry, Membrane Proteins, Prostatic Neoplasms, prostate cancer, Androgen, medicine.disease, female genital diseases and pregnancy complications, 3. Good health, Gene Expression Regulation, Neoplastic, Androgen receptor, 030104 developmental biology, Endocrinology, Oncology, Receptors, Androgen, Gene Knockdown Techniques, 030220 oncology & carcinogenesis, embryonic structures, Androgens, Cancer research, Protein kinase D1, Signal transduction, business, Research Paper, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86395348841701b98971fe0a08eeeaebTest
https://doi.org/10.18632/oncotarget.14536Test

المؤلفون: Robert N. Wilkinson, Charbel El Boustany, Fabrice Duprat, Jonathan S. Marchant, Céline Moro, Ivana Y. Kuo, Barbara E. Ehrlich, Christophe Duranton, Aaron M Savage, Nicolas Picard, Gihan S. Gunaratne, Fredericus J.M. van Eeden, Amanda Patel, Isabelle Rubera, Dahui Li, Sophie Pagnotta, Hélène Duval, Sandra Lacas-Gervais, Malika Arhatte, Magali Plaisant, Anais Couvreux, Sophie Demolombe, Eric Honoré

المساهمون: Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), University of Minnesota [Twin Cities] (UMN), University of Minnesota System, Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Institut de signalisation, biologie du développement et cancer (ISBDC), Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Laboratoire de PhysioMédecine Moléculaire (LP2M), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Physiologie cellulaire et moléculaire des systèmes intégrés (PCMSI), Centre Commun de Microscopie Appliquée (CCMA), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), University Medical Center Carl Gustav Carus, Dresden University of Technology Department of Conserva, COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Université Côte d'Azur (UCA), Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)

المصدر: Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10, pp.2024. ⟨10.1038/s41467-019-10045-y⟩
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: 0301 basic medicine, Embryo, Nonmammalian, General Physics and Astronomy, 02 engineering and technology, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Endoplasmic Reticulum, urologic and male genital diseases, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Calcium in biology, Kidney Tubules, Proximal, Mice, RNA, Small Interfering, lcsh:Science, Zebrafish, Mice, Knockout, Multidisciplinary, Chemistry, Calcium signalling, Acute kidney injury, Acute Kidney Injury, 021001 nanoscience & nanotechnology, Endoplasmic Reticulum Stress, Polycystic Kidney, Autosomal Dominant, 3. Good health, Cell biology, Convoluted tubule, Gene Knockdown Techniques, 0210 nano-technology, endocrine system, TRPP Cation Channels, Science, Autosomal dominant polycystic kidney disease, chemistry.chemical_element, Calcium, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Polycystic kidney disease, medicine, Animals, Humans, Calcium metabolism, urogenital system, Endoplasmic reticulum, Cell Membrane, Membrane Proteins, Epithelial Cells, General Chemistry, Zebrafish Proteins, medicine.disease, Disease Models, Animal, 030104 developmental biology, Mutation, Unfolded protein response, lcsh:Q, Lysosomes, HeLa Cells

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59ea36d34a5db61ef3cbb055c4cff55dTest
https://hal.archives-ouvertes.fr/hal-02322062/documentTest

المؤلفون: Kirsten Y. Renkema, Marijn Stokman, Rachel H. Giles, Nine V A M Knoers

المصدر: Nature Reviews Nephrology. 10:433-444

مصطلحات موضوعية: Nephrology, medicine.medical_specialty, TRPP Cation Channels, Kidney/abnormalities, Signal Transducing/genetics, Vesico-Ureteral Reflux/genetics, Disclosure, Chronic/diagnosis, Kidney, Bioinformatics, Ciliopathies, DNA sequencing, Nephronophthisis, Internal medicine, medicine, Animals, Humans, Polycystic Kidney, TRPP Cation Channels/genetics, Renal Insufficiency, Renal Insufficiency, Chronic, Membrane Proteins/genetics, Urinary Tract, Adaptor Proteins, Signal Transducing, Genetic testing, Vesico-Ureteral Reflux, High-Throughput Nucleotide Sequencing/methods, Incidental Findings, medicine.diagnostic_test, business.industry, High-Throughput Nucleotide Sequencing, Membrane Proteins, Adaptor Proteins, Kidney Diseases, Cystic, Polycystic Kidney, Autosomal Dominant, medicine.disease, Disclosure/ethics, Cytoskeletal Proteins, Urinary Tract/abnormalities, Urogenital Abnormalities, Cystic/genetics, Kidney Diseases, Identification (biology), Personalized medicine, business, Autosomal Dominant/genetics, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9380c9bfa664ccc21e3ea27fd267c3fTest
https://doi.org/10.1038/nrneph.2014.95Test