FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2954930429> ?p ?o ?g. }

• W2954930429 abstract "Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen of 331 unrelated Japanese patients, we identify a disruptive Alu insertion and a nonsense variant (p.Arg1933*) in the ciliary gene RP1, neither of which are rare alleles in Japan. p.Arg1933* is almost polymorphic (frequency = 0.6%, amongst 12,000 individuals), does not cause disease in homozygosis or heterozygosis, and yet is significantly enriched in HRD patients (frequency = 2.1%, i.e., a 3.5-fold enrichment; p-value = 9.2 × 10-5). Familial co-segregation and association analyses show that p.Arg1933* can act as a Mendelian mutation in trans with the Alu insertion, but might also associate with disease in combination with two alleles in the EYS gene in a non-Mendelian pattern of heredity. Our results suggest that rare conditions such as HRDs can be paradoxically determined by relatively common variants, following a quasi-Mendelian model linking monogenic and complex inheritance." @default.
• W2954930429 created "2019-07-12" @default.
• W2954930429 creator A5001942683 @default.
• W2954930429 creator A5003779897 @default.
• W2954930429 creator A5003874624 @default.
• W2954930429 creator A5005705284 @default.
• W2954930429 creator A5008048412 @default.
• W2954930429 creator A5011354872 @default.
• W2954930429 creator A5016886341 @default.
• W2954930429 creator A5022002741 @default.
• W2954930429 creator A5022621431 @default.
• W2954930429 creator A5024961680 @default.
• W2954930429 creator A5030560740 @default.
• W2954930429 creator A5033755499 @default.
• W2954930429 creator A5038695802 @default.
• W2954930429 creator A5038710773 @default.
• W2954930429 creator A5053661053 @default.
• W2954930429 creator A5056120761 @default.
• W2954930429 creator A5062486848 @default.
• W2954930429 creator A5068932933 @default.
• W2954930429 creator A5070007977 @default.
• W2954930429 creator A5071075730 @default.
• W2954930429 creator A5072223009 @default.
• W2954930429 creator A5072877214 @default.
• W2954930429 creator A5073479929 @default.
• W2954930429 creator A5075453835 @default.
• W2954930429 creator A5075668312 @default.
• W2954930429 creator A5078101996 @default.
• W2954930429 creator A5085467135 @default.
• W2954930429 creator A5086811494 @default.
• W2954930429 date "2019-06-28" @default.
• W2954930429 modified "2023-10-13" @default.
• W2954930429 title "A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy" @default.
• W2954930429 cites W1175815497 @default.
• W2954930429 cites W1530076913 @default.
• W2954930429 cites W1576154026 @default.
• W2954930429 cites W1591134372 @default.
• W2954930429 cites W1964377238 @default.
• W2954930429 cites W1965235603 @default.
• W2954930429 cites W1973950074 @default.
• W2954930429 cites W1984068087 @default.
• W2954930429 cites W1987494207 @default.
• W2954930429 cites W1996485763 @default.
• W2954930429 cites W1998533469 @default.
• W2954930429 cites W2000026153 @default.
• W2954930429 cites W2006433593 @default.
• W2954930429 cites W2007413374 @default.
• W2954930429 cites W2018197169 @default.
• W2954930429 cites W2018655601 @default.
• W2954930429 cites W2034223507 @default.
• W2954930429 cites W2039819049 @default.
• W2954930429 cites W2042293587 @default.
• W2954930429 cites W2049417498 @default.
• W2954930429 cites W2050838276 @default.
• W2954930429 cites W2062699991 @default.
• W2954930429 cites W2063348376 @default.
• W2954930429 cites W2063796050 @default.
• W2954930429 cites W2067008480 @default.
• W2954930429 cites W2089337982 @default.
• W2954930429 cites W2093669238 @default.
• W2954930429 cites W2104350474 @default.
• W2954930429 cites W2109616976 @default.
• W2954930429 cites W2111078229 @default.
• W2954930429 cites W2112897062 @default.
• W2954930429 cites W2113764519 @default.
• W2954930429 cites W2118944744 @default.
• W2954930429 cites W2119180969 @default.
• W2954930429 cites W2119924680 @default.
• W2954930429 cites W2121216668 @default.
• W2954930429 cites W2121416524 @default.
• W2954930429 cites W2128094487 @default.
• W2954930429 cites W2139298839 @default.
• W2954930429 cites W2143732398 @default.
• W2954930429 cites W2147698885 @default.
• W2954930429 cites W2153806919 @default.
• W2954930429 cites W2156246099 @default.
• W2954930429 cites W2161633633 @default.
• W2954930429 cites W2161935988 @default.
• W2954930429 cites W2170685496 @default.
• W2954930429 cites W2256016639 @default.
• W2954930429 cites W2331648671 @default.
• W2954930429 cites W2409327750 @default.
• W2954930429 cites W2491683918 @default.
• W2954930429 cites W2554687533 @default.
• W2954930429 cites W2555695501 @default.
• W2954930429 cites W2584469054 @default.
• W2954930429 cites W2589098519 @default.
• W2954930429 cites W2605184278 @default.
• W2954930429 cites W2608148424 @default.
• W2954930429 cites W2756892369 @default.
• W2954930429 cites W2793827167 @default.
• W2954930429 cites W2809858666 @default.
• W2954930429 cites W2810084591 @default.
• W2954930429 cites W2883839056 @default.
• W2954930429 cites W2914482125 @default.
• W2954930429 cites W2923900359 @default.
• W2954930429 cites W3092058903 @default.
• W2954930429 cites W4246217303 @default.
• W2954930429 doi "https://doi.org/10.1038/s41467-019-10746-4" @default.
• W2954930429 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6599023" @default.

• next