المؤلفون: Fedeles BI; Departments of Biological Engineering, Chemistry and Center for Environmental Health Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139., Bhardwaj R; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Ishikawa Y; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Khumsubdee S; Departments of Biological Engineering, Chemistry and Center for Environmental Health Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139.; Laboratory of Medicinal Chemistry, Chulabhorn Research Institute, Bangkok 10210, Thailand., Krappitz M; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Gubina N; Departments of Biological Engineering, Chemistry and Center for Environmental Health Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139.; Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Pushchino 142290, Russia., Volpe I; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Andrade DC; Departments of Biological Engineering, Chemistry and Center for Environmental Health Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139., Westergerling P; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Staudner T; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Campolo J; Departments of Biological Engineering, Chemistry and Center for Environmental Health Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139., Liu SS; Departments of Biological Engineering, Chemistry and Center for Environmental Health Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139., Dong K; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Cai Y; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Rehman M; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Gallagher AR; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Ruchirawat S; Laboratory of Medicinal Chemistry, Chulabhorn Research Institute, Bangkok 10210, Thailand., Croy RG; Departments of Biological Engineering, Chemistry and Center for Environmental Health Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139., Essigmann JM; Departments of Biological Engineering, Chemistry and Center for Environmental Health Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139., Fedeles SV; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510., Somlo S; Department of Internal Medicine, Section of Nephrology, Yale School of Medicine, New Haven, CT 06510.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Jan 23; Vol. 121 (4), pp. e2317344121. Date of Electronic Publication: 2024 Jan 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Kidney, Autosomal Dominant*/drug therapy , Polycystic Kidney, Autosomal Dominant*/genetics , Polycystic Kidney, Autosomal Dominant*/metabolism , Polycystic Kidney Diseases*/metabolism , Cysts*/metabolism, Mice ; Animals ; Cell Proliferation ; Apoptosis ; Oxidative Stress ; DNA/metabolism ; Kidney/metabolism ; TRPP Cation Channels/genetics

المؤلفون: Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S

المصدر: The Journal of clinical investigation [J Clin Invest] 2017 Sep 01; Vol. 127 (9), pp. 3558. Date of Electronic Publication: 2017 Sep 01.

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: PubMed not MEDLINE

المؤلفون: Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S

المصدر: The Journal of clinical investigation [J Clin Invest] 2017 May 01; Vol. 127 (5), pp. 1772-1785. Date of Electronic Publication: 2017 Apr 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Cysts*/genetics , Cysts*/metabolism , Glucosyltransferases*/genetics , Glucosyltransferases*/metabolism , Heterozygote* , Liver Diseases*/genetics , Liver Diseases*/metabolism , Mutation* , SEC Translocation Channels*/genetics , SEC Translocation Channels*/metabolism , TRPP Cation Channels*/biosynthesis , TRPP Cation Channels*/genetics, Adult ; Animals ; Calcium-Binding Proteins ; Cell Line, Transformed ; Endoplasmic Reticulum/genetics ; Endoplasmic Reticulum/metabolism ; Female ; Genome-Wide Association Study ; Glucosidases/genetics ; Glucosidases/metabolism ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Male ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice ; Molecular Chaperones ; RNA-Binding Proteins

SCR Disease Name: Polycystic liver disease

المؤلفون: Overton JD; Rutgers-Robert Wood Johnson Medical School, Dept. of Pharmacology, Piscataway, 08854, USA., Komiya Y; Rutgers-Robert Wood Johnson Medical School, Dept. of Pharmacology, Piscataway, 08854, USA., Mezzacappa C; Temple University, Dept. of Biology, Philadelphia, 19122, USA., Nama K; Temple University, Dept. of Biology, Philadelphia, 19122, USA., Cai N; Rutgers-Robert Wood Johnson Medical School, Dept. of Pharmacology, Piscataway, 08854, USA., Lou L; Rutgers-Robert Wood Johnson Medical School, Dept. of Pharmacology, Piscataway, 08854, USA., Fedeles SV; Yale University School of Medicine, Dept. of Internal Medicine, New Haven, 06510, USA., Habas R; Temple University, Dept. of Biology, Philadelphia, 19122, USA., Runnels LW; Rutgers-Robert Wood Johnson Medical School, Dept. of Pharmacology, Piscataway, 08854, USA.

المصدر: Scientific reports [Sci Rep] 2015 Dec 16; Vol. 5, pp. 18395. Date of Electronic Publication: 2015 Dec 16.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Embryo, Nonmammalian/*embryology , Embryonic Development/*physiology , Gastrula/*embryology , Glucosidases/*metabolism , TRPM Cation Channels/*metabolism , Xenopus Proteins/*metabolism, Animals ; Cell Line ; Glucosidases/genetics ; Humans ; Mice ; TRPM Cation Channels/genetics ; Xenopus Proteins/genetics ; Xenopus laevis

المؤلفون: Fedeles SV, So JS, Shrikhande A, Lee SH, Gallagher AR, Barkauskas CE, Somlo S, Lee AH

المصدر: The Journal of clinical investigation [J Clin Invest] 2015 May; Vol. 125 (5), pp. 1955-67. Date of Electronic Publication: 2015 Apr 06.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: DNA Helicases/*physiology , DNA-Binding Proteins/*physiology , Endoribonucleases/*metabolism , Polycystic Kidney, Autosomal Dominant/*genetics , Polycystic Kidney, Autosomal Recessive/*genetics , Protein Serine-Threonine Kinases/*metabolism , TRPP Cation Channels/*deficiency , Transcription Factors/*physiology , Unfolded Protein Response/*physiology, Animals ; Cell Line ; DNA Helicases/deficiency ; DNA Helicases/genetics ; DNA-Binding Proteins/deficiency ; DNA-Binding Proteins/genetics ; Disease Models, Animal ; Female ; Glucosidases/deficiency ; Glucosidases/genetics ; Intracellular Signaling Peptides and Proteins/deficiency ; Intracellular Signaling Peptides and Proteins/genetics ; Kidney/metabolism ; Kidney/pathology ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mice, Transgenic ; Molecular Chaperones ; Polycystic Kidney, Autosomal Dominant/metabolism ; Polycystic Kidney, Autosomal Recessive/metabolism ; Protein Structure, Tertiary ; RNA Splicing ; RNA, Small Interfering/genetics ; RNA-Binding Proteins ; Receptors, G-Protein-Coupled/metabolism ; Recombinant Fusion Proteins/metabolism ; Regulatory Factor X Transcription Factors ; TRPP Cation Channels/biosynthesis ; TRPP Cation Channels/genetics ; Transcription Factors/deficiency ; Transcription Factors/genetics ; Transfection ; X-Box Binding Protein 1

المؤلفون: Cai Y, Fedeles SV, Dong K, Anyatonwu G, Onoe T, Mitobe M, Gao JD, Okuhara D, Tian X, Gallagher AR, Tang Z, Xie X, Lalioti MD, Lee AH, Ehrlich BE, Somlo S

المصدر: The Journal of clinical investigation [J Clin Invest] 2014 Dec; Vol. 124 (12), pp. 5129-44. Date of Electronic Publication: 2014 Nov 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Kidney Diseases/*metabolism , TRPP Cation Channels/*metabolism, Animals ; Cell Line ; Cilia/genetics ; Cilia/metabolism ; Cilia/pathology ; Humans ; Mice ; Mice, Transgenic ; Mutation, Missense ; Polycystic Kidney Diseases/genetics ; Polycystic Kidney Diseases/prevention & control ; Protein Stability ; Protein Structure, Tertiary ; Protein Transport/genetics ; TRPP Cation Channels/genetics

المؤلفون: Fedeles SV; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA. Electronic address: sorin.fedeles@yale.edu., Gallagher AR; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA., Somlo S; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. Electronic address: stefan.somlo@yale.edu.

المصدر: Trends in molecular medicine [Trends Mol Med] 2014 May; Vol. 20 (5), pp. 251-60. Date of Electronic Publication: 2014 Jan 31.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 100966035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-499X (Electronic) Linking ISSN: 14714914 NLM ISO Abbreviation: Trends Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Cysts/*metabolism , Polycystic Kidney Diseases/*metabolism , TRPP Cation Channels/*metabolism, Animals ; Cysts/genetics ; Humans ; Polycystic Kidney Diseases/genetics ; TRPP Cation Channels/genetics

المؤلفون: Yuajit C; Department of Physiology, Faculty of Science, Mahidol University, Bangkok, Thailand; Department of Internal Medicine, Genetic, Yale University School of Medicine, New Haven, CT, USA., Muanprasat C; Department of Physiology, Faculty of Science, Mahidol University, Bangkok, Thailand; Research Center of Transport Protein for Medical Innovation, Faculty of Science, Mahidol University, Bangkok, Thailand., Gallagher AR; Department of Internal Medicine, Genetic, Yale University School of Medicine, New Haven, CT, USA., Fedeles SV; Department of Internal Medicine, Genetic, Yale University School of Medicine, New Haven, CT, USA., Kittayaruksakul S; Department of Physiology, Faculty of Science, Mahidol University, Bangkok, Thailand., Homvisasevongsa S; Division of Physical Science, Faculty of Science and Technology, Huachiew Chalermprakiet University, Samutprakarn, Thailand., Somlo S; Department of Internal Medicine, Genetic, Yale University School of Medicine, New Haven, CT, USA. Electronic address: Stefan.somlo@yale.edu., Chatsudthipong V; Department of Physiology, Faculty of Science, Mahidol University, Bangkok, Thailand; Research Center of Transport Protein for Medical Innovation, Faculty of Science, Mahidol University, Bangkok, Thailand. Electronic address: varanuj.cha@mahidol.ac.th.

المصدر: Biochemical pharmacology [Biochem Pharmacol] 2014 Apr 01; Vol. 88 (3), pp. 412-21. Date of Electronic Publication: 2014 Feb 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: England NLM ID: 0101032 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2968 (Electronic) Linking ISSN: 00062952 NLM ISO Abbreviation: Biochem Pharmacol Subsets: MEDLINE

مواضيع طبية MeSH: Cystic Fibrosis Transmembrane Conductance Regulator/*metabolism , Diterpenes, Kaurane/*pharmacology , Epithelial Cells/*drug effects , Polycystic Kidney Diseases/*drug therapy, AMP-Activated Protein Kinases/metabolism ; Animals ; Apoptosis ; Cell Proliferation ; Diterpenes, Kaurane/therapeutic use ; Enzyme Activation ; Epithelial Cells/pathology ; Glucosides/pharmacology ; Glucosides/therapeutic use ; Humans ; Mice ; Mice, Mutant Strains ; Polycystic Kidney Diseases/metabolism ; Polycystic Kidney Diseases/pathology

المؤلفون: Lang S; Medical Biochemistry and Molecular Biology, Saarland University, Homburg, Germany., Benedix J, Fedeles SV, Schorr S, Schirra C, Schäuble N, Jalal C, Greiner M, Hassdenteufel S, Tatzelt J, Kreutzer B, Edelmann L, Krause E, Rettig J, Somlo S, Zimmermann R, Dudek J

المصدر: Journal of cell science [J Cell Sci] 2012 Apr 15; Vol. 125 (Pt 8), pp. 1958-69. Date of Electronic Publication: 2012 Feb 28.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Company of Biologists Country of Publication: England NLM ID: 0052457 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9137 (Electronic) Linking ISSN: 00219533 NLM ISO Abbreviation: J Cell Sci Subsets: MEDLINE

مواضيع طبية MeSH: DNA Helicases/*metabolism , Endoplasmic Reticulum/*metabolism , Membrane Proteins/*metabolism , Membrane Transport Proteins/*metabolism , Peptides/*metabolism, Animals ; DNA Helicases/genetics ; Endoplasmic Reticulum/genetics ; Gene Silencing ; HeLa Cells ; Humans ; Membrane Proteins/genetics ; Membrane Transport Proteins/genetics ; Mice ; Molecular Chaperones ; NIH 3T3 Cells ; Protein Precursors/genetics ; Protein Precursors/metabolism ; Protein Processing, Post-Translational ; Protein Transport ; RNA-Binding Proteins ; SEC Translocation Channels

المؤلفون: Fedeles SV; Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA., Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, Cai Y, Geng L, Crews CM, Somlo S

المصدر: Nature genetics [Nat Genet] 2011 Jun 19; Vol. 43 (7), pp. 639-47. Date of Electronic Publication: 2011 Jun 19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Cysts/*pathology , Glucosidases/*metabolism , Intracellular Signaling Peptides and Proteins/*metabolism , Liver Diseases/*metabolism , Polycystic Kidney Diseases/*metabolism , Receptors, Cell Surface/*metabolism , TRPP Cation Channels/*metabolism, Animals ; Apoptosis ; Blotting, Western ; Cell Proliferation ; Cysts/genetics ; Cysts/metabolism ; Female ; Glucosidases/genetics ; Immunoenzyme Techniques ; Immunoprecipitation ; Intracellular Signaling Peptides and Proteins/genetics ; Liver Diseases/genetics ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Mutation ; Polycystic Kidney Diseases/genetics ; Receptors, Cell Surface/genetics ; TRPP Cation Channels/genetics

SCR Disease Name: Polycystic liver disease