FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2485573835> ?p ?o ?g. }

• W2485573835 endingPage "815" @default.
• W2485573835 startingPage "797" @default.
• W2485573835 abstract "To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases.Seven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these families underwent ophthalmic examinations to document the symptoms and confirm the initial diagnosis. Blood samples were collected from all participating members, and genomic DNA was extracted. An exclusion analysis with microsatellite markers spanning the TULP1 locus on chromosome 6p was performed, and two-point logarithm of odds (LOD) scores were calculated. All coding exons along with the exon-intron boundaries of TULP1 were sequenced bidirectionally. We constructed a single nucleotide polymorphism (SNP) haplotype for the four familial cases harboring the K489R allele and estimated the likelihood of a founder effect.The ophthalmic examinations of the affected individuals in these familial cases were suggestive of RP. Exclusion analyses confirmed linkage to chromosome 6p harboring TULP1 with positive two-point LOD scores. Subsequent Sanger sequencing identified the single base pair substitution in exon14, c.1466A>G (p.K489R), in four families. Additionally, we identified a two-base deletion in exon 4, c.286_287delGA (p.E96Gfs77*); a homozygous splice site variant in intron 14, c.1495+4A>C; and a novel missense variation in exon 15, c.1561C>T (p.P521S). All mutations segregated with the disease phenotype in the respective families and were absent in ethnically matched control chromosomes. Haplotype analysis suggested (p<10(-6)) that affected individuals inherited the causal mutation from a common ancestor.Pathogenic mutations in TULP1 are responsible for the RP phenotype in seven familial cases with a common ancestral mutation responsible for the disease phenotype in four of the seven families." @default.
• W2485573835 created "2016-08-23" @default.
• W2485573835 creator A5005372199 @default.
• W2485573835 creator A5017568118 @default.
• W2485573835 creator A5025546061 @default.
• W2485573835 creator A5054918012 @default.
• W2485573835 creator A5056512930 @default.
• W2485573835 creator A5067687885 @default.
• W2485573835 creator A5072825233 @default.
• W2485573835 creator A5078084654 @default.
• W2485573835 creator A5081971877 @default.
• W2485573835 creator A5083040312 @default.
• W2485573835 creator A5084167429 @default.
• W2485573835 date "2016-01-01" @default.
• W2485573835 modified "2023-10-16" @default.
• W2485573835 title "Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases." @default.
• W2485573835 cites W1259991921 @default.
• W2485573835 cites W135930319 @default.
• W2485573835 cites W1486218138 @default.
• W2485573835 cites W1498154027 @default.
• W2485573835 cites W1499022496 @default.
• W2485573835 cites W1507327514 @default.
• W2485573835 cites W1508022627 @default.
• W2485573835 cites W1526371295 @default.
• W2485573835 cites W1547636063 @default.
• W2485573835 cites W1574664953 @default.
• W2485573835 cites W1575279402 @default.
• W2485573835 cites W1604929717 @default.
• W2485573835 cites W1606281425 @default.
• W2485573835 cites W1607116816 @default.
• W2485573835 cites W1873318678 @default.
• W2485573835 cites W1968646671 @default.
• W2485573835 cites W1970335747 @default.
• W2485573835 cites W1970794687 @default.
• W2485573835 cites W1970799201 @default.
• W2485573835 cites W1972132166 @default.
• W2485573835 cites W1972631980 @default.
• W2485573835 cites W1974832413 @default.
• W2485573835 cites W1976145736 @default.
• W2485573835 cites W1980117883 @default.
• W2485573835 cites W1980643521 @default.
• W2485573835 cites W1984017781 @default.
• W2485573835 cites W1988485709 @default.
• W2485573835 cites W1990801986 @default.
• W2485573835 cites W1991704007 @default.
• W2485573835 cites W1993087645 @default.
• W2485573835 cites W1996375861 @default.
• W2485573835 cites W1996485763 @default.
• W2485573835 cites W1997065647 @default.
• W2485573835 cites W1997760441 @default.
• W2485573835 cites W1998073995 @default.
• W2485573835 cites W1998341422 @default.
• W2485573835 cites W2001122776 @default.
• W2485573835 cites W2003088834 @default.
• W2485573835 cites W2003428013 @default.
• W2485573835 cites W2006354120 @default.
• W2485573835 cites W2012582259 @default.
• W2485573835 cites W2016614788 @default.
• W2485573835 cites W2018355418 @default.
• W2485573835 cites W2021712425 @default.
• W2485573835 cites W2022776635 @default.
• W2485573835 cites W2024227773 @default.
• W2485573835 cites W2025297276 @default.
• W2485573835 cites W2025368485 @default.
• W2485573835 cites W2026521118 @default.
• W2485573835 cites W2029485967 @default.
• W2485573835 cites W2029944729 @default.
• W2485573835 cites W2032323396 @default.
• W2485573835 cites W2033532423 @default.
• W2485573835 cites W2044068827 @default.
• W2485573835 cites W2046703219 @default.
• W2485573835 cites W2058065304 @default.
• W2485573835 cites W2061833150 @default.
• W2485573835 cites W2063347806 @default.
• W2485573835 cites W2065640029 @default.
• W2485573835 cites W2067292623 @default.
• W2485573835 cites W2067944019 @default.
• W2485573835 cites W2069708962 @default.
• W2485573835 cites W2070184146 @default.
• W2485573835 cites W2071746489 @default.
• W2485573835 cites W2076082580 @default.
• W2485573835 cites W2077915591 @default.
• W2485573835 cites W2078495124 @default.
• W2485573835 cites W2084903155 @default.
• W2485573835 cites W2085436555 @default.
• W2485573835 cites W2085815839 @default.
• W2485573835 cites W2086493498 @default.
• W2485573835 cites W2086797522 @default.
• W2485573835 cites W2089769294 @default.
• W2485573835 cites W2091093956 @default.
• W2485573835 cites W2091515229 @default.
• W2485573835 cites W2092033931 @default.
• W2485573835 cites W2093727178 @default.
• W2485573835 cites W2097704237 @default.
• W2485573835 cites W2098583674 @default.
• W2485573835 cites W2103376319 @default.
• W2485573835 cites W2110529639 @default.
• W2485573835 cites W2112101855 @default.

• next