Matches in SemOpenAlex for { <https://semopenalex.org/work/W4211232356> ?p ?o ?g. }
- W4211232356 endingPage "194" @default.
- W4211232356 startingPage "181" @default.
- W4211232356 abstract "Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. It is caused by mutations in 11 different genes, denoted nephrocystins (NPHP1–11, NPHP1L). As an increasing number of these genes are identified, our knowledge of nephronophthisis is changing, thereby improving our understanding of the pathomechanisms in NPHP. Recent publications have described ciliary expression of nephrocystins together with other cystoproteins, such as polycystins 1 and 2 and fibrocystin. These findings have shifted our focus to a pathomechanism involving defects in ciliary function (ciliopathy) and planar cell polarity (PCP). In addition, discoveries of new nephrocystin genes have shown that the disease spectrum of NPHP is much broader than previously anticipated. Different forms of mutations within the same NPHP gene can cause different disease severity. In this review, we highlight the different hypotheses on the pathomechanisms for NPHP and underline the clinical variability of this disease. The clinical spectrum has become even more complex with the possibility of oligogenicity in NPHP." @default.
- W4211232356 created "2022-02-13" @default.
- W4211232356 creator A5002057732 @default.
- W4211232356 creator A5055434712 @default.
- W4211232356 date "2010-07-22" @default.
- W4211232356 modified "2023-10-01" @default.
- W4211232356 title "Nephronophthisis" @default.
- W4211232356 cites W1964212058 @default.
- W4211232356 cites W1965235603 @default.
- W4211232356 cites W1968179754 @default.
- W4211232356 cites W1971462660 @default.
- W4211232356 cites W1973538793 @default.
- W4211232356 cites W1976708316 @default.
- W4211232356 cites W1979829774 @default.
- W4211232356 cites W1981598821 @default.
- W4211232356 cites W1984919127 @default.
- W4211232356 cites W1985558072 @default.
- W4211232356 cites W1991585430 @default.
- W4211232356 cites W1996445467 @default.
- W4211232356 cites W2001837397 @default.
- W4211232356 cites W2003260901 @default.
- W4211232356 cites W2004945792 @default.
- W4211232356 cites W2005938853 @default.
- W4211232356 cites W2007442376 @default.
- W4211232356 cites W2011258958 @default.
- W4211232356 cites W2011409781 @default.
- W4211232356 cites W2011505059 @default.
- W4211232356 cites W2012410794 @default.
- W4211232356 cites W2012526827 @default.
- W4211232356 cites W2015234820 @default.
- W4211232356 cites W2016559364 @default.
- W4211232356 cites W2028651090 @default.
- W4211232356 cites W2034822483 @default.
- W4211232356 cites W2035045763 @default.
- W4211232356 cites W2040162797 @default.
- W4211232356 cites W2041530623 @default.
- W4211232356 cites W2042019507 @default.
- W4211232356 cites W2043524463 @default.
- W4211232356 cites W2044949852 @default.
- W4211232356 cites W2048804322 @default.
- W4211232356 cites W2049335442 @default.
- W4211232356 cites W2050281909 @default.
- W4211232356 cites W2050676484 @default.
- W4211232356 cites W2058077945 @default.
- W4211232356 cites W2060110008 @default.
- W4211232356 cites W2061356134 @default.
- W4211232356 cites W2061607192 @default.
- W4211232356 cites W2062696982 @default.
- W4211232356 cites W2064966510 @default.
- W4211232356 cites W2066041050 @default.
- W4211232356 cites W2067709306 @default.
- W4211232356 cites W2076018659 @default.
- W4211232356 cites W2076379797 @default.
- W4211232356 cites W2081362828 @default.
- W4211232356 cites W2082289161 @default.
- W4211232356 cites W2084723401 @default.
- W4211232356 cites W2093148342 @default.
- W4211232356 cites W2094703860 @default.
- W4211232356 cites W2095866746 @default.
- W4211232356 cites W2095869636 @default.
- W4211232356 cites W2097416028 @default.
- W4211232356 cites W2097693927 @default.
- W4211232356 cites W2098559443 @default.
- W4211232356 cites W2099008080 @default.
- W4211232356 cites W2100914850 @default.
- W4211232356 cites W2101457064 @default.
- W4211232356 cites W2102864788 @default.
- W4211232356 cites W2106423726 @default.
- W4211232356 cites W2106697346 @default.
- W4211232356 cites W2110283302 @default.
- W4211232356 cites W2110394648 @default.
- W4211232356 cites W2111745892 @default.
- W4211232356 cites W2113325631 @default.
- W4211232356 cites W2113764519 @default.
- W4211232356 cites W2114339744 @default.
- W4211232356 cites W2118044285 @default.
- W4211232356 cites W2121416524 @default.
- W4211232356 cites W2122084492 @default.
- W4211232356 cites W2125787225 @default.
- W4211232356 cites W2127031146 @default.
- W4211232356 cites W2127352376 @default.
- W4211232356 cites W2132365119 @default.
- W4211232356 cites W2137568017 @default.
- W4211232356 cites W2140084702 @default.
- W4211232356 cites W2140100347 @default.
- W4211232356 cites W2141331673 @default.
- W4211232356 cites W2144515265 @default.
- W4211232356 cites W2144877389 @default.
- W4211232356 cites W2145237803 @default.
- W4211232356 cites W2147020146 @default.
- W4211232356 cites W2150765300 @default.
- W4211232356 cites W2150928079 @default.
- W4211232356 cites W2152007993 @default.
- W4211232356 cites W2156190275 @default.
- W4211232356 cites W2159146099 @default.
- W4211232356 cites W2162620349 @default.
- W4211232356 cites W2162681116 @default.
- W4211232356 cites W2165392132 @default.