نتائج البحث

1

Expression of the polycystin-1 C-terminal cytoplasmic tail increases Cl- channel activity inXenopus oocytes

المؤلفون: Jeffrey S. Clark, David H. Vandorpe, Seth L. Alper, Marina N. Chernova

المصدر: Kidney International. (2):632-641

مصطلحات موضوعية: Cytoplasm, medicine.medical_specialty, Patch-Clamp Techniques, TRPP Cation Channels, Xenopus, Voltage clamp, Biology, urologic and male genital diseases, RNA, Complementary, chemistry.chemical_compound, Chlorides, Chloride Channels, Cations, Internal medicine, Serine, medicine, Animals, Patch clamp, Phosphorylation, Radioisotopes, Polycystin-1, chemistry.chemical_classification, autosomal dominant polycystic kidney disease, urogenital system, Reabsorption, Cell Membrane, cation channel, Membrane Proteins, Proteins, NS3623, Polycystic Kidney, Autosomal Dominant, biology.organism_classification, Molecular biology, isotopic flux, female genital diseases and pregnancy complications, Protein Structure, Tertiary, Amino acid, coiled-coil domain, EGTA, Endocrinology, chemistry, DIDS, Nephrology, Mutation, Oocytes, Tyrosine, Calcium

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd27896fceaf6a8bcca30a01ee7c2044Test

2

mTOR and rapamycin in the kidney: signaling and therapeutic implications beyond immunosuppression

المؤلفون: Gerd Walz, Tobias B. Huber, E. Wolfgang Kuehn

المصدر: Kidney International. (5):502-511

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2229ec159297331fb1cd329c902d4139Test

3

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

المساهمون: Çocuk Sağlığı ve Hastalıkları

المصدر: Kidney International. (11):1468-1479

مصطلحات موضوعية: Male, TRPP Cation Channels, PKD1/TSC2-CGS, Pseudogene, PKD2, DNA Mutational Analysis, Autosomal dominant polycystic kidney disease, 030204 cardiovascular system & hematology, Biology, medicine.disease_cause, urologic and male genital diseases, Contiguous gene syndrome, Article, 03 medical and health sciences, 0302 clinical medicine, Tuberous Sclerosis Complex 2 Protein, medicine, Humans, Multiplex ligation-dependent probe amplification, 030304 developmental biology, ADPKD, Family Health, Gene Rearrangement, Genetics, 0303 health sciences, Mutation, PKD1, Donor selection, urogenital system, Tumor Suppressor Proteins, deletions, Gene rearrangement, Urology & Nephrology, Polycystic Kidney, Autosomal Dominant, medicine.disease, female genital diseases and pregnancy complications, Pedigree, 3. Good health, MLPA, Nephrology, embryonic structures, Female, mosaic, Gene Deletion

وصف الملف: text/plain; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60ff9f500943e9a326d0bef6f2ee2211Test

4

A missense mutation in PKD1 attenuates the severity of renal disease

المؤلفون: Gregory G. Germino, Elizabeth Dicks, York Pei, Patrick S. Parfrey, Terry Watnick, Miguel A. Garcia-Gonzalez, Zheng Lan, Kairong Wang, Ning He

المصدر: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)

مصطلحات موضوعية: TRPP Cation Channels, Genotype, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, Mutation, Missense, Apoptosis, Biology, medicine.disease_cause, urologic and male genital diseases, Severity of Illness Index, Article, 03 medical and health sciences, 0302 clinical medicine, Dogs, Mutant protein, medicine, Missense mutation, Animals, Humans, Allele, Cells, Cultured, mutation analysis, 030304 developmental biology, Cell Proliferation, ADPKD, Genetics, 0303 health sciences, Mutation, PKD1, Cysts, urogenital system, Haplotype, hypomorphic allele, medicine.disease, Polycystic Kidney, Autosomal Dominant, missense variant, female genital diseases and pregnancy complications, 3. Good health, Pedigree, Phenotype, Nephrology, embryonic structures, Mutation testing, Cancer research, functional assay

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df1be6bef549d7cd5928efa423fc4cf8Test

5

T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease

المؤلفون: Gregory G. Germino, Zhao Zhang, Indra R. Gupta, Diana M. Iglesias, Michelle M. Miller, Inga J. Murawski, Stefan Somlo, Rachel Corsini, Paul Goodyer, LeeLee Chu

المصدر: Kidney International. (2):146-153

مصطلحات موضوعية: medicine.medical_specialty, TRPP Cation Channels, Transcription, Genetic, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, Kidney development, Biology, genetics and development, urologic and male genital diseases, Models, Biological, Kidney cysts, Mice, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Polycystic kidney disease, Animals, cell signaling, cystic kidney, beta Catenin, 030304 developmental biology, ADPKD, kidney development, Cystic kidney, 0303 health sciences, PKD1, Cysts, urogenital system, Age Factors, Wnt signaling pathway, Polycystic Kidney, Autosomal Dominant, medicine.disease, Mice, Mutant Strains, Cell biology, Wnt Proteins, Kidney Tubules, Endocrinology, Nephrology, Catenin, Mutation, medicine.symptom, TCF Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b55ec024f990159a30d4dd3b0088d19bTest

6

Sirolimus attenuates disease progression in an orthologous mouse model of human autosomal dominant polycystic kidney disease

المؤلفون: Kameswaran Ravichandran, R. Brian Doctor, Franck A. Belibi, Iram Zafar, Charles L. Edelstein

المصدر: Kidney International. (8):754-761

مصطلحات موضوعية: Nephrology, medicine.medical_specialty, TRPP Cation Channels, Autosomal dominant polycystic kidney disease, Renal function, Mechanistic Target of Rapamycin Complex 1, Biology, Kidney, Kidney Function Tests, Mice, Internal medicine, medicine, Polycystic kidney disease, Animals, Humans, Cyst, sirolimus polycystic kidney mouse, Sirolimus, polycystic kidney disease, Cysts, urogenital system, TOR Serine-Threonine Kinases, Body Weight, Proteins, Organ Size, Polycystic Kidney, Autosomal Dominant, medicine.disease, Mice, Mutant Strains, Disease Models, Animal, medicine.anatomical_structure, Endocrinology, Multiprotein Complexes, Disease Progression, signaling, Immunosuppressive Agents, Kidney disease, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bdef1d8ca5a2c33aa54d303ee37c7a3Test

7

A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene

المؤلفون: Peter St George-Hyslop, Stefan Somlo, Andrew D. Paterson, Jeromy Lian, Ekaterina Rogovea, Margareth Kasenda, York Pei, Eric Huang, Kairong Wang, Yan Liang

المصدر: Kidney International. (5):1127-1132

مصطلحات موضوعية: Male, Models, Molecular, Adenosine, TRPP Cation Channels, Genotype, Genetic Linkage, Protein Conformation, Autosomal dominant polycystic kidney disease, Biology, urologic and male genital diseases, Family genetics, Polymerase Chain Reaction, mutation in PKD2, Frameshift mutation, End stage renal disease, Exon, medicine, Polycystic kidney disease, Humans, Amino Acid Sequence, education, Frameshift Mutation, Alleles, DNA Primers, Genetics, education.field_of_study, end-stage renal disease, PKD1, Base Sequence, urogenital system, Membrane Proteins, Nucleic Acid Hybridization, Exons, Middle Aged, medicine.disease, Polycystic Kidney, Autosomal Dominant, female genital diseases and pregnancy complications, Pedigree, Polycystin 2, Nephrology, Mendelian disorder, family genetics, Female, Chromosomes, Human, Pair 4, cyst enlargement

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc7c0a78a1b1eada6970f503a5b3ae96Test

8

Is there a third gene for autosomal dominant polycystic kidney disease?

المؤلفون: York Pei, Andrew D. Paterson

المصدر: Kidney International. (5):1759-1761

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fcf5eb417928dffa47451149caf8c8Test

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