FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2013846303> ?p ?o ?g. }

• W2013846303 endingPage "395" @default.
• W2013846303 startingPage "387" @default.
• W2013846303 abstract "Summary: Important advances in understanding the common genetic disease, autosomal dominant polycystic kidney disease (ADPKD), have been made in last 3 years through the identification and characterization of the major genes, PKDI and PKD2. the PKDI and PDK2 genes map to the chromosomal regions, 16p13.3 (within a complex reiterated area) and 4q21-23, respectively, and encode transcripts of over 14kb (PKDI) and 5 kb (PKD2). the predicted PKD1 protein, polycystin, is 4302/3 aa with a calculated molecular mass of approximately 460 kDa. Polycystin has a large extracellular region containing motifs involved in protein-protein and protein-carbohydrate interactions, and is attached to the membrane with multiple transmembrane regions. PKD2 is a small integral membrane protein (110 kD) with cytoplasmic N and C termini, 6 transmembrane domains and a region of homology with polycystin. Similarity of PKD2 to voltage-gated ion channels and an area of homology between polycystin and a receptor for egg jelly protein, which is thought to regulate ion channels, suggests a role for the ADPKD proteins in ion transport. the PKD1 and PKD2 genes are expressed in most tissues and polycystin has been localised to tubular epithelial structures in the fetal and adult kidney. A Western product of approximately 400 kDa has been detected in membrane fractions of renal tissue and strong polycystin expression has been noted in PKD1 cystic epithelia. the mutations detected at PKD1 and PKD2 suggest that these germline changes are inactivating. A specific syndrome due to a deletion of PKD1 and the adjacent TSC2 gene is associated with early onset polycystic kidney disease and tuberous sclerosis. Recent evidence of somatic mutation in cystic epithelia suggests that PKD1 is recessive at the cellular level, although this appears a odds with the continued polycystin expression noted in these cells. Further studies to determine the precise mutational mechanism and the normal role of the ADPKD proteins is required." @default.
• W2013846303 created "2016-06-24" @default.
• W2013846303 creator A5002238355 @default.
• W2013846303 date "1997-12-01" @default.
• W2013846303 modified "2023-09-23" @default.
• W2013846303 title "Autosomal dominant polycystic kidney disease: A genetic perspective" @default.
• W2013846303 cites W1551136355 @default.
• W2013846303 cites W1578096869 @default.
• W2013846303 cites W1878346953 @default.
• W2013846303 cites W1897409704 @default.
• W2013846303 cites W1963903301 @default.
• W2013846303 cites W1964743454 @default.
• W2013846303 cites W1967966326 @default.
• W2013846303 cites W1970582960 @default.
• W2013846303 cites W1971473766 @default.
• W2013846303 cites W1975872567 @default.
• W2013846303 cites W1978268357 @default.
• W2013846303 cites W1982566418 @default.
• W2013846303 cites W1984615286 @default.
• W2013846303 cites W1985930065 @default.
• W2013846303 cites W1986665389 @default.
• W2013846303 cites W1987032035 @default.
• W2013846303 cites W1988192546 @default.
• W2013846303 cites W1990332938 @default.
• W2013846303 cites W1992093075 @default.
• W2013846303 cites W1992960888 @default.
• W2013846303 cites W1994265078 @default.
• W2013846303 cites W1996847747 @default.
• W2013846303 cites W2001066104 @default.
• W2013846303 cites W2004178591 @default.
• W2013846303 cites W2005026678 @default.
• W2013846303 cites W2005702003 @default.
• W2013846303 cites W2007225462 @default.
• W2013846303 cites W2008589258 @default.
• W2013846303 cites W2012159432 @default.
• W2013846303 cites W2017553946 @default.
• W2013846303 cites W2022012638 @default.
• W2013846303 cites W2023125419 @default.
• W2013846303 cites W2027132391 @default.
• W2013846303 cites W2031741682 @default.
• W2013846303 cites W2036077644 @default.
• W2013846303 cites W2039475986 @default.
• W2013846303 cites W2039853214 @default.
• W2013846303 cites W2048168245 @default.
• W2013846303 cites W2049581261 @default.
• W2013846303 cites W2053078821 @default.
• W2013846303 cites W2054633304 @default.
• W2013846303 cites W2057325536 @default.
• W2013846303 cites W2061927142 @default.
• W2013846303 cites W2063092306 @default.
• W2013846303 cites W2065225319 @default.
• W2013846303 cites W2066630542 @default.
• W2013846303 cites W2074061748 @default.
• W2013846303 cites W2077858999 @default.
• W2013846303 cites W2081659168 @default.
• W2013846303 cites W2088811685 @default.
• W2013846303 cites W2089240579 @default.
• W2013846303 cites W2089820925 @default.
• W2013846303 cites W2094982034 @default.
• W2013846303 cites W2095947738 @default.
• W2013846303 cites W2112284440 @default.
• W2013846303 cites W2113799345 @default.
• W2013846303 cites W2121601246 @default.
• W2013846303 cites W2123332237 @default.
• W2013846303 cites W2129925928 @default.
• W2013846303 cites W2133212333 @default.
• W2013846303 cites W2133532840 @default.
• W2013846303 cites W2134765026 @default.
• W2013846303 cites W2152162813 @default.
• W2013846303 cites W2155915868 @default.
• W2013846303 cites W2157926899 @default.
• W2013846303 cites W2166448583 @default.
• W2013846303 cites W2167467350 @default.
• W2013846303 cites W2170776815 @default.
• W2013846303 cites W2182914835 @default.
• W2013846303 cites W2184532647 @default.
• W2013846303 cites W2223063733 @default.
• W2013846303 cites W2235106477 @default.
• W2013846303 cites W2265659983 @default.
• W2013846303 cites W2282558901 @default.
• W2013846303 cites W2295251904 @default.
• W2013846303 cites W2315872644 @default.
• W2013846303 cites W2324772986 @default.
• W2013846303 cites W2397058459 @default.
• W2013846303 cites W2416347732 @default.
• W2013846303 cites W4240915676 @default.
• W2013846303 doi "https://doi.org/10.1111/j.1440-1797.1997.tb00261.x" @default.
• W2013846303 hasPublicationYear "1997" @default.
• W2013846303 type Work @default.
• W2013846303 sameAs 2013846303 @default.
• W2013846303 citedByCount "3" @default.
• W2013846303 crossrefType "journal-article" @default.
• W2013846303 hasAuthorship W2013846303A5002238355 @default.
• W2013846303 hasConcept C100773827 @default.
• W2013846303 hasConcept C104317684 @default.
• W2013846303 hasConcept C118892022 @default.
• W2013846303 hasConcept C144647389 @default.
• W2013846303 hasConcept C153911025 @default.

• next