about
Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasmCleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and functionPkd1 and Pkd2 are required for normal placental developmentRole of polycystins in renal tubulogenesisCo-assembly of polycystin-1 and -2 produces unique cation-permeable currentsPolyductin undergoes notch-like processing and regulated release from primary ciliaRapamycin ameliorates PKD resulting from conditional inactivation of Pkd1.Murine Models of Polycystic Kidney Disease.A missense mutation in PKD1 attenuates the severity of renal diseaseFine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.Network analysis of a Pkd1-mouse model of autosomal dominant polycystic kidney disease identifies HNF4α as a disease modifier.Polycystin-1 induces resistance to apoptosis through the phosphatidylinositol 3-kinase/Akt signaling pathway.Macromolecular assembly of polycystin-2 intracytosolic C-terminal domain.Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology.PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.The isolated polycystin-1 COOH-terminal can activate or block polycystin-1 signaling.Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure.A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1The nanomechanics of polycystin-1 extracellular region.Inactivation of Pkd1 in principal cells causes a more severe cystic kidney disease than in intercalated cellsT-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease.Polycystic kidney disease, cilia, and planar polarity.Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene.Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1.Heterologous expression of polycystin-1 inhibits endoplasmic reticulum calcium leak in stably transfected MDCK cells.Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).mTOR inhibitors in polycystic kidney disease.Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.Murine Pkd1 introns 21 and 22 lack the extreme polypyrimidine bias present in human PKD1.From cilia to cyst.Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1)Multiple-laboratory comparison of microarray platformsMilder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations
P50
Q24299323-B85A90BF-9231-4B93-B128-EEAB26A548DDQ24305942-3AC6A405-CBAF-489E-9093-CB013E3622BBQ24336734-BEC9F57D-5A7A-4E05-8483-85CBD824489DQ24678735-F5613EDA-4C53-4F18-AD07-AF4CF18C5059Q27319907-B0D76A13-3E9A-4C4C-ACD6-87F6EEB9FEE7Q28204194-C883AA7F-DAE0-4681-A460-905193B1E7CCQ29615755-A440BA17-D440-42E5-9234-18569D53F634Q30479973-7AB592EF-1207-44C7-B0EB-DC626D78C8C2Q33702386-D70B5FFF-D0D6-4732-A34B-42234CA8716DQ33856965-358AE5A7-261F-4D32-B030-E3CAEF043E21Q33926310-7C6F68E1-40A8-43F6-AA46-8C3506618F4EQ34460473-F50334EC-B7D3-42CE-83FF-7FCF8373F8CCQ34499444-4E68AED3-909F-4882-A5C8-763CEBA0A3C9Q34654407-6C98080C-1D53-400C-9BA5-4B5B7977F514Q35049106-8E7382FF-A8DA-480C-A026-5F19EA76CDACQ35063429-01688AF5-A6D1-4FE8-8BB2-6ABFDD41FCDEQ35755781-02BD8DCE-AD87-453C-94FF-6EE5D2F98626Q35764727-B0EAFB95-BD19-49B4-BCCA-720A3F5A6C1CQ36087807-8F308CC6-2614-4A22-BFAB-C715BB9E4773Q36158232-C1A51264-55C4-4F03-A732-578DCBBB8976Q36158405-5CF45234-610E-4520-9AB3-392F8795D27CQ36276959-D7D88297-1CE3-49F5-98D5-667ED0AC3B97Q36549183-EDDB2A2D-DBBB-4B69-B833-E32DFE0F2284Q37245844-F07E1576-0FD8-44F4-8059-7E49C645286FQ37427837-A07E6304-3DAD-417A-AD96-FDEF2C02768EQ37429266-2285B2E7-949C-478E-AABD-956024B4BF4AQ37723498-CA367E6B-8A0E-4C52-86AF-477456A6AC23Q40128114-559282BD-942B-4904-970E-9B7780C622C9Q40212701-0CB6A3EE-6C7C-4592-90A6-DD02EA91B541Q41353750-C393BC0B-DFEC-450F-8648-BE4A1F665DABQ42015539-A0F19806-66B2-40DD-9B83-1E700B5616E9Q42434953-9C8C79D6-E00D-4BCC-8822-6DEDE16123E1Q42691857-BD746E1B-27F2-42DC-A2F7-9E39B60DBAF3Q43004248-31E84413-1992-4AF9-8DB2-7F943AB8157FQ48286475-F2DB703C-2D79-42E8-B7AE-D38D6F46B289Q52908073-CB8AFC8F-9BB5-4DBE-A6CE-8604B139FD68Q55036761-7E537024-7FA9-4665-AAFA-2184E485AC33Q57226865-644288DF-012E-4D8A-B9E6-EF8F79F055C3Q57248479-8DFD6ED6-0E54-4BDD-AC40-9351131737C0Q57908871-9DC504FE-7438-4386-9593-BDEDC4235537
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Gregory Germino
@ast
Gregory Germino
@en
Gregory Germino
@es
Gregory Germino
@nl
Gregory Germino
@sl
type
label
Gregory Germino
@ast
Gregory Germino
@en
Gregory Germino
@es
Gregory Germino
@nl
Gregory Germino
@sl
prefLabel
Gregory Germino
@ast
Gregory Germino
@en
Gregory Germino
@es
Gregory Germino
@nl
Gregory Germino
@sl
P106
P1153
26643540000
P21
P31
P496
0000-0002-3609-5588