FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2017820004> ?p ?o ?g. }

• W2017820004 endingPage "e12375" @default.
• W2017820004 startingPage "e12375" @default.
• W2017820004 abstract "Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD) is a relatively common, lethal malformation in humans. Established clinical risk factors include maternal insulin dependent diabetes mellitus and male sex of the fetus. In the majority of cases, no specific etiology can be established, although teratogenic, syndromal and single gene causes can be assigned to some cases.45 unrelated fetuses, stillbirths or infants with lethal BRAHD were ascertained through a single regional paediatric pathology service (male:female 34:11 or 3.1:1). The previously reported phenotypic overlaps with VACTERL, caudal dysgenesis, hemifacial microsomia and Müllerian defects were confirmed. A new finding is that 16/45 (35.6%; m:f 13:3 or 4.3:1) BRAHD cases had one or more extrarenal malformations indicative of a disoder of laterality determination including; incomplete lobulation of right lung (seven cases), malrotation of the gut (seven cases) and persistence of the left superior vena cava (five cases). One such case with multiple laterality defects and sirelomelia was found to have a de novo apparently balanced reciprocal translocation 46,XY,t(2;6)(p22.3;q12). Translocation breakpoint mapping was performed by interphase fluorescent in-situ hybridization (FISH) using nuclei extracted from archival tissue sections in both this case and an isolated bilateral renal agenesis case associated with a de novo 46,XY,t(1;2)(q41;p25.3). Both t(2;6) breakpoints mapped to gene-free regions with no strong evidence of cis-regulatory potential. Ten genes localized within 500 kb of the t(1;2) breakpoints. Wholemount in-situ expression analyses of the mouse orthologs of these genes in embryonic mouse kidneys showed strong expression of Esrrg, encoding a nuclear steroid hormone receptor. Immunohistochemical analysis showed that Esrrg was restricted to proximal ductal tissue within the embryonic kidney.The previously unreported association of BRAHD with laterality defects suggests that renal agenesis may share a common etiology with heterotaxy in some cases. Translocation breakpoint mapping identified ESRRG as a plausible candidate gene for BRAHD." @default.
• W2017820004 created "2016-06-24" @default.
• W2017820004 creator A5012250178 @default.
• W2017820004 creator A5013600915 @default.
• W2017820004 creator A5015345647 @default.
• W2017820004 creator A5024169122 @default.
• W2017820004 creator A5051840065 @default.
• W2017820004 creator A5055590372 @default.
• W2017820004 creator A5055650452 @default.
• W2017820004 creator A5064159235 @default.
• W2017820004 creator A5082528184 @default.
• W2017820004 date "2010-08-25" @default.
• W2017820004 modified "2023-10-13" @default.
• W2017820004 title "Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations" @default.
• W2017820004 cites W1595762290 @default.
• W2017820004 cites W1678409217 @default.
• W2017820004 cites W1964813073 @default.
• W2017820004 cites W1984257172 @default.
• W2017820004 cites W1986622643 @default.
• W2017820004 cites W1986795490 @default.
• W2017820004 cites W1987566228 @default.
• W2017820004 cites W1988977149 @default.
• W2017820004 cites W1995875075 @default.
• W2017820004 cites W1996932388 @default.
• W2017820004 cites W1999693507 @default.
• W2017820004 cites W1999713082 @default.
• W2017820004 cites W2003163571 @default.
• W2017820004 cites W2008712623 @default.
• W2017820004 cites W2011697505 @default.
• W2017820004 cites W2011956726 @default.
• W2017820004 cites W2014878885 @default.
• W2017820004 cites W2016499666 @default.
• W2017820004 cites W2021174854 @default.
• W2017820004 cites W2025353041 @default.
• W2017820004 cites W2028809730 @default.
• W2017820004 cites W2036921369 @default.
• W2017820004 cites W2037665181 @default.
• W2017820004 cites W2038916593 @default.
• W2017820004 cites W2041369790 @default.
• W2017820004 cites W2041865462 @default.
• W2017820004 cites W2043188635 @default.
• W2017820004 cites W2051998916 @default.
• W2017820004 cites W2058615775 @default.
• W2017820004 cites W2062997289 @default.
• W2017820004 cites W2084377854 @default.
• W2017820004 cites W2086792801 @default.
• W2017820004 cites W2087677572 @default.
• W2017820004 cites W2095635019 @default.
• W2017820004 cites W2105878939 @default.
• W2017820004 cites W2106446112 @default.
• W2017820004 cites W2110498608 @default.
• W2017820004 cites W2115957572 @default.
• W2017820004 cites W2117287510 @default.
• W2017820004 cites W2128481086 @default.
• W2017820004 cites W2131869533 @default.
• W2017820004 cites W2138779509 @default.
• W2017820004 cites W2144359192 @default.
• W2017820004 cites W2149275036 @default.
• W2017820004 cites W2150094887 @default.
• W2017820004 cites W2336930908 @default.
• W2017820004 cites W2417381705 @default.
• W2017820004 cites W4254675614 @default.
• W2017820004 doi "https://doi.org/10.1371/journal.pone.0012375" @default.
• W2017820004 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2928268" @default.
• W2017820004 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20811621" @default.
• W2017820004 hasPublicationYear "2010" @default.
• W2017820004 type Work @default.
• W2017820004 sameAs 2017820004 @default.
• W2017820004 citedByCount "32" @default.
• W2017820004 countsByYear W20178200042012 @default.
• W2017820004 countsByYear W20178200042013 @default.
• W2017820004 countsByYear W20178200042014 @default.
• W2017820004 countsByYear W20178200042015 @default.
• W2017820004 countsByYear W20178200042016 @default.
• W2017820004 countsByYear W20178200042017 @default.
• W2017820004 countsByYear W20178200042018 @default.
• W2017820004 countsByYear W20178200042019 @default.
• W2017820004 countsByYear W20178200042020 @default.
• W2017820004 countsByYear W20178200042021 @default.
• W2017820004 countsByYear W20178200042022 @default.
• W2017820004 countsByYear W20178200042023 @default.
• W2017820004 crossrefType "journal-article" @default.
• W2017820004 hasAuthorship W2017820004A5012250178 @default.
• W2017820004 hasAuthorship W2017820004A5013600915 @default.
• W2017820004 hasAuthorship W2017820004A5015345647 @default.
• W2017820004 hasAuthorship W2017820004A5024169122 @default.
• W2017820004 hasAuthorship W2017820004A5051840065 @default.
• W2017820004 hasAuthorship W2017820004A5055590372 @default.
• W2017820004 hasAuthorship W2017820004A5055650452 @default.
• W2017820004 hasAuthorship W2017820004A5064159235 @default.
• W2017820004 hasAuthorship W2017820004A5082528184 @default.
• W2017820004 hasBestOaLocation W20178200041 @default.
• W2017820004 hasConcept C104317684 @default.
• W2017820004 hasConcept C105702510 @default.
• W2017820004 hasConcept C138626823 @default.
• W2017820004 hasConcept C142724271 @default.
• W2017820004 hasConcept C206936463 @default.
• W2017820004 hasConcept C2775894508 @default.

• next