FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2142295376> ?p ?o ?g. }

• W2142295376 endingPage "e51546" @default.
• W2142295376 startingPage "e51546" @default.
• W2142295376 abstract "Among African-Americans, genome wide association revealed a strong correlation between the G1 and G2 alleles of APOL1 (apolipoproteinL1, also called trypanolytic factor) and kidney diseases including focal and segmental glomerulosclerosis, HIV-associated nephropathy and hypertensive nephrosclerosis. In the prevailing hypothesis, heterozygous APOL1 G1 and G2 alleles increase resistance against Trypanosoma that cause African sleeping sickness, resulting in positive selection of these alleles, but when homozygous the G1 and G2 alleles predispose to glomerulosclerosis. While efforts are underway to screen patients for G1 and G2 alleles and to better understand APOL1 glomerulopathy, no data prove that these APOL1 sequence variants cause glomerulosclerosis. G1 and G2 correlate best with glomerulosclerosis as recessive alleles, which suggests a loss of function mutation for which proof of causality is commonly tested with homozygous null alleles. This test cannot be performed in rodents as the APOL gene cluster evolved only in primates. However, there is a homozygous APOL1 null human being who lives in a village in rural India. This individual and his family offer a unique opportunity to test causality between APOL1 null alleles and glomerulosclerosis.We obtained clinical data, blood and urine from this APOL1 null patient and 50 related villagers. Based on measurements of blood pressure, BUN, creatinine, albuminuria, genotyping and immunoblotting, this APOL1 null individual does not have glomerulosclerosis, nor do his relatives who carry APOL1 null alleles.This small study cannot provide definitive conclusions but the absence of glomerulosclerosis in this unique population is consistent with the possibility that African-American glomerulosclerosis is caused, not by loss of APOL1 function, but by other mechanisms including a subtle gain of function or by the genetic hitchhiking of deleterious mutations in a gene linked to APOL1 G1 and G2." @default.
• W2142295376 created "2016-06-24" @default.
• W2142295376 creator A5003943541 @default.
• W2142295376 creator A5014937991 @default.
• W2142295376 creator A5031629394 @default.
• W2142295376 creator A5033198644 @default.
• W2142295376 creator A5042532076 @default.
• W2142295376 creator A5056141729 @default.
• W2142295376 creator A5056878210 @default.
• W2142295376 creator A5057140488 @default.
• W2142295376 creator A5076435991 @default.
• W2142295376 creator A5080194483 @default.
• W2142295376 date "2012-12-26" @default.
• W2142295376 modified "2023-10-13" @default.
• W2142295376 title "APOL1 Null Alleles from a Rural Village in India Do Not Correlate with Glomerulosclerosis" @default.
• W2142295376 cites W1499224629 @default.
• W2142295376 cites W1608491734 @default.
• W2142295376 cites W1848438563 @default.
• W2142295376 cites W1970097278 @default.
• W2142295376 cites W1978226210 @default.
• W2142295376 cites W1982443613 @default.
• W2142295376 cites W1985522229 @default.
• W2142295376 cites W1988420740 @default.
• W2142295376 cites W1999030993 @default.
• W2142295376 cites W2025026896 @default.
• W2142295376 cites W2030803259 @default.
• W2142295376 cites W2032486197 @default.
• W2142295376 cites W2032919960 @default.
• W2142295376 cites W2042717820 @default.
• W2142295376 cites W2071289299 @default.
• W2142295376 cites W2074486083 @default.
• W2142295376 cites W2074706032 @default.
• W2142295376 cites W2084067015 @default.
• W2142295376 cites W2091194428 @default.
• W2142295376 cites W2095464171 @default.
• W2142295376 cites W2096624080 @default.
• W2142295376 cites W2100586653 @default.
• W2142295376 cites W2102946398 @default.
• W2142295376 cites W2105658033 @default.
• W2142295376 cites W2108164807 @default.
• W2142295376 cites W2110595758 @default.
• W2142295376 cites W2110597957 @default.
• W2142295376 cites W2112897062 @default.
• W2142295376 cites W2115404637 @default.
• W2142295376 cites W2117446594 @default.
• W2142295376 cites W2121965895 @default.
• W2142295376 cites W2124641083 @default.
• W2142295376 cites W2126367887 @default.
• W2142295376 cites W2129753509 @default.
• W2142295376 cites W2136780715 @default.
• W2142295376 cites W2137096226 @default.
• W2142295376 cites W2144516349 @default.
• W2142295376 cites W2146124520 @default.
• W2142295376 cites W2146597955 @default.
• W2142295376 cites W2147626377 @default.
• W2142295376 cites W2148745148 @default.
• W2142295376 cites W2149588710 @default.
• W2142295376 cites W2149616337 @default.
• W2142295376 cites W2160180886 @default.
• W2142295376 cites W2164610555 @default.
• W2142295376 cites W2166585544 @default.
• W2142295376 cites W2168074442 @default.
• W2142295376 cites W2169982370 @default.
• W2142295376 cites W2171502387 @default.
• W2142295376 cites W2225716095 @default.
• W2142295376 cites W2270669221 @default.
• W2142295376 doi "https://doi.org/10.1371/journal.pone.0051546" @default.
• W2142295376 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3530541" @default.
• W2142295376 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23300552" @default.
• W2142295376 hasPublicationYear "2012" @default.
• W2142295376 type Work @default.
• W2142295376 sameAs 2142295376 @default.
• W2142295376 citedByCount "66" @default.
• W2142295376 countsByYear W21422953762013 @default.
• W2142295376 countsByYear W21422953762014 @default.
• W2142295376 countsByYear W21422953762015 @default.
• W2142295376 countsByYear W21422953762016 @default.
• W2142295376 countsByYear W21422953762017 @default.
• W2142295376 countsByYear W21422953762018 @default.
• W2142295376 countsByYear W21422953762019 @default.
• W2142295376 countsByYear W21422953762020 @default.
• W2142295376 countsByYear W21422953762021 @default.
• W2142295376 countsByYear W21422953762022 @default.
• W2142295376 countsByYear W21422953762023 @default.
• W2142295376 crossrefType "journal-article" @default.
• W2142295376 hasAuthorship W2142295376A5003943541 @default.
• W2142295376 hasAuthorship W2142295376A5014937991 @default.
• W2142295376 hasAuthorship W2142295376A5031629394 @default.
• W2142295376 hasAuthorship W2142295376A5033198644 @default.
• W2142295376 hasAuthorship W2142295376A5042532076 @default.
• W2142295376 hasAuthorship W2142295376A5056141729 @default.
• W2142295376 hasAuthorship W2142295376A5056878210 @default.
• W2142295376 hasAuthorship W2142295376A5057140488 @default.
• W2142295376 hasAuthorship W2142295376A5076435991 @default.
• W2142295376 hasAuthorship W2142295376A5080194483 @default.
• W2142295376 hasBestOaLocation W21422953761 @default.
• W2142295376 hasConcept C104317684 @default.
• W2142295376 hasConcept C180754005 @default.

• next