FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4384342086> ?p ?o ?g. }

• W4384342086 endingPage "1117" @default.
• W4384342086 startingPage "1117" @default.
• W4384342086 abstract "The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well.Herein, we performed an exome analysis of case-parent trios with cloacal exstrophy (CE), the most severe form of the BEEC. Furthermore, we surveyed the exome of a sib-pair presenting with classic bladder exstrophy (CBE) and epispadias (E) only. Moreover, we performed large-scale re-sequencing of CBE individuals for novel candidate genes that were derived from the current exome analysis, as well as for previously reported candidate genes within the CBE phenocritical region, 22q11.2.The exome survey in the CE case-parent trios identified two candidate genes harboring de novo variants (NR1H2, GKAP1), four candidate genes with autosomal-recessive biallelic variants (AKR1B10, CLSTN3, NDST4, PLEKHB1) and one candidate gene with suggestive uniparental disomy (SVEP1). However, re-sequencing did not identify any additional variant carriers in these candidate genes. Analysis of the affected sib-pair revealed no candidate gene. Re-sequencing of the genes within the 22q11.2 CBE phenocritical region identified two highly conserved frameshift variants that led to early termination in two independent CBE males, in LZTR1 (c.978_985del, p.Ser327fster6) and in SLC7A4 (c.1087delC, p.Arg363fster68).According to previous studies, our study further implicates LZTR1 in CBE formation. Exome analysis-derived candidate genes from CE individuals may not represent a frequent indicator for other BEEC phenotypes and warrant molecular analysis before their involvement in disease formation can be assumed." @default.
• W4384342086 created "2023-07-15" @default.
• W4384342086 creator A5001700930 @default.
• W4384342086 creator A5001793629 @default.
• W4384342086 creator A5011737655 @default.
• W4384342086 creator A5012024814 @default.
• W4384342086 creator A5016604400 @default.
• W4384342086 creator A5017101571 @default.
• W4384342086 creator A5022733569 @default.
• W4384342086 creator A5025052862 @default.
• W4384342086 creator A5042630628 @default.
• W4384342086 creator A5042725318 @default.
• W4384342086 creator A5053942821 @default.
• W4384342086 creator A5055330206 @default.
• W4384342086 creator A5060116010 @default.
• W4384342086 creator A5062311041 @default.
• W4384342086 creator A5063977858 @default.
• W4384342086 creator A5069089432 @default.
• W4384342086 creator A5069249124 @default.
• W4384342086 creator A5073431929 @default.
• W4384342086 creator A5075806643 @default.
• W4384342086 creator A5077453120 @default.
• W4384342086 creator A5078410289 @default.
• W4384342086 creator A5085453172 @default.
• W4384342086 date "2023-07-13" @default.
• W4384342086 modified "2023-09-26" @default.
• W4384342086 title "Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation" @default.
• W4384342086 cites W1798792622 @default.
• W4384342086 cites W1808711893 @default.
• W4384342086 cites W2005070845 @default.
• W4384342086 cites W2013382782 @default.
• W4384342086 cites W2034477244 @default.
• W4384342086 cites W2036065567 @default.
• W4384342086 cites W2049342116 @default.
• W4384342086 cites W2051978340 @default.
• W4384342086 cites W2059145105 @default.
• W4384342086 cites W2073041456 @default.
• W4384342086 cites W2096525273 @default.
• W4384342086 cites W2111402390 @default.
• W4384342086 cites W2124161548 @default.
• W4384342086 cites W2135690097 @default.
• W4384342086 cites W2137588974 @default.
• W4384342086 cites W2149440805 @default.
• W4384342086 cites W2154760206 @default.
• W4384342086 cites W2164004777 @default.
• W4384342086 cites W2194964239 @default.
• W4384342086 cites W2398690791 @default.
• W4384342086 cites W2420661998 @default.
• W4384342086 cites W2468741344 @default.
• W4384342086 cites W2518901523 @default.
• W4384342086 cites W2582170815 @default.
• W4384342086 cites W2745226153 @default.
• W4384342086 cites W2770026599 @default.
• W4384342086 cites W2901071193 @default.
• W4384342086 cites W2943631837 @default.
• W4384342086 cites W2955177623 @default.
• W4384342086 cites W3009746164 @default.
• W4384342086 cites W3029661147 @default.
• W4384342086 cites W3046498386 @default.
• W4384342086 cites W3093868212 @default.
• W4384342086 cites W3108679240 @default.
• W4384342086 cites W3129351841 @default.
• W4384342086 cites W3144103470 @default.
• W4384342086 cites W3162840810 @default.
• W4384342086 cites W3188277538 @default.
• W4384342086 cites W4200599095 @default.
• W4384342086 cites W4205440119 @default.
• W4384342086 cites W4226172016 @default.
• W4384342086 cites W4289274885 @default.
• W4384342086 cites W4309999671 @default.
• W4384342086 doi "https://doi.org/10.3390/biom13071117" @default.
• W4384342086 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37509153" @default.
• W4384342086 hasPublicationYear "2023" @default.
• W4384342086 type Work @default.
• W4384342086 citedByCount "0" @default.
• W4384342086 crossrefType "journal-article" @default.
• W4384342086 hasAuthorship W4384342086A5001700930 @default.
• W4384342086 hasAuthorship W4384342086A5001793629 @default.
• W4384342086 hasAuthorship W4384342086A5011737655 @default.
• W4384342086 hasAuthorship W4384342086A5012024814 @default.
• W4384342086 hasAuthorship W4384342086A5016604400 @default.
• W4384342086 hasAuthorship W4384342086A5017101571 @default.
• W4384342086 hasAuthorship W4384342086A5022733569 @default.
• W4384342086 hasAuthorship W4384342086A5025052862 @default.
• W4384342086 hasAuthorship W4384342086A5042630628 @default.
• W4384342086 hasAuthorship W4384342086A5042725318 @default.
• W4384342086 hasAuthorship W4384342086A5053942821 @default.
• W4384342086 hasAuthorship W4384342086A5055330206 @default.
• W4384342086 hasAuthorship W4384342086A5060116010 @default.
• W4384342086 hasAuthorship W4384342086A5062311041 @default.
• W4384342086 hasAuthorship W4384342086A5063977858 @default.
• W4384342086 hasAuthorship W4384342086A5069089432 @default.
• W4384342086 hasAuthorship W4384342086A5069249124 @default.
• W4384342086 hasAuthorship W4384342086A5073431929 @default.
• W4384342086 hasAuthorship W4384342086A5075806643 @default.
• W4384342086 hasAuthorship W4384342086A5077453120 @default.
• W4384342086 hasAuthorship W4384342086A5078410289 @default.
• W4384342086 hasAuthorship W4384342086A5085453172 @default.

• next