FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3129120210> ?p ?o ?g. }

• W3129120210 endingPage "104158" @default.
• W3129120210 startingPage "104158" @default.
• W3129120210 abstract "Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome is a sex development disorder that affects 1 in every 4500 46, XX live births. At least a subset of MRKH syndrome is genetically related to which various candidate genes have been identified. The growth regulation by estrogen in breast cancer 1-like gene (GREB1L) is an androgen-regulated gene reported to be a co-activator of the retinoic acid receptor gene (RAR). Thus expression levels of GREB1L have implications on renal system cellular differentiation, morphogenesis, and homeostasis in vertebrates. Variants of GREB1L have been reported in familial and sporadic MRKH Syndrome and more importantly, in a three-generation family ofMRKH syndrome propositae. Much the same way, Mutants of GREB1L have also been identified in isolated bilateral renal agenesis and deafness both of which are extra-genital tract anomalies in MRKH type 2. Again, renal agenesis transgenic mice have been produced from an E13.5 CRISPR/cas9 GREB1L mutagenesis. Though no GREB1L mutation has been reported in cardiac malformation, there is evidence that GREB1L is involved in ventricular development. Here, we intorigate evidence that projects GREB1L as a candidate gene of Mayer-Rokitansky-Kuster-Hauser Syndrome and propose that functional validation analysis to that effect is imparative." @default.
• W3129120210 created "2021-02-15" @default.
• W3129120210 creator A5023514057 @default.
• W3129120210 creator A5044019180 @default.
• W3129120210 date "2021-03-01" @default.
• W3129120210 modified "2023-09-26" @default.
• W3129120210 title "GREB1L as a candidate gene of Mayer–Rokitansky–Küster–Hauser Syndrome" @default.
• W3129120210 cites W1520429340 @default.
• W3129120210 cites W1598952385 @default.
• W3129120210 cites W1968866292 @default.
• W3129120210 cites W1969107953 @default.
• W3129120210 cites W1970608536 @default.
• W3129120210 cites W1977471472 @default.
• W3129120210 cites W1994615670 @default.
• W3129120210 cites W2004097747 @default.
• W3129120210 cites W2007330428 @default.
• W3129120210 cites W2015761261 @default.
• W3129120210 cites W2023203512 @default.
• W3129120210 cites W2023301525 @default.
• W3129120210 cites W2030385147 @default.
• W3129120210 cites W2031848708 @default.
• W3129120210 cites W2036376037 @default.
• W3129120210 cites W2041865462 @default.
• W3129120210 cites W2043832156 @default.
• W3129120210 cites W2063016391 @default.
• W3129120210 cites W2067446620 @default.
• W3129120210 cites W2069100031 @default.
• W3129120210 cites W2071369698 @default.
• W3129120210 cites W2077950681 @default.
• W3129120210 cites W2085236305 @default.
• W3129120210 cites W2100792952 @default.
• W3129120210 cites W2106446112 @default.
• W3129120210 cites W2121930219 @default.
• W3129120210 cites W2124161548 @default.
• W3129120210 cites W2130724937 @default.
• W3129120210 cites W2138779509 @default.
• W3129120210 cites W2152985924 @default.
• W3129120210 cites W2156119779 @default.
• W3129120210 cites W2158766500 @default.
• W3129120210 cites W2162765123 @default.
• W3129120210 cites W2166725161 @default.
• W3129120210 cites W2419405591 @default.
• W3129120210 cites W2419829930 @default.
• W3129120210 cites W2526866696 @default.
• W3129120210 cites W2528855361 @default.
• W3129120210 cites W2546667113 @default.
• W3129120210 cites W2546906832 @default.
• W3129120210 cites W2549185556 @default.
• W3129120210 cites W2736407968 @default.
• W3129120210 cites W2742881784 @default.
• W3129120210 cites W2747239662 @default.
• W3129120210 cites W2765164319 @default.
• W3129120210 cites W2766036117 @default.
• W3129120210 cites W2771540396 @default.
• W3129120210 cites W2810342674 @default.
• W3129120210 cites W2902293883 @default.
• W3129120210 cites W2904231437 @default.
• W3129120210 cites W2952233634 @default.
• W3129120210 cites W2969926748 @default.
• W3129120210 cites W2992717874 @default.
• W3129120210 cites W3003950999 @default.
• W3129120210 cites W3021182817 @default.
• W3129120210 cites W3036199922 @default.
• W3129120210 cites W3088912474 @default.
• W3129120210 cites W3125921304 @default.
• W3129120210 cites W98587092 @default.
• W3129120210 doi "https://doi.org/10.1016/j.ejmg.2021.104158" @default.
• W3129120210 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33548512" @default.
• W3129120210 hasPublicationYear "2021" @default.
• W3129120210 type Work @default.
• W3129120210 sameAs 3129120210 @default.
• W3129120210 citedByCount "10" @default.
• W3129120210 countsByYear W31291202102021 @default.
• W3129120210 countsByYear W31291202102022 @default.
• W3129120210 countsByYear W31291202102023 @default.
• W3129120210 crossrefType "journal-article" @default.
• W3129120210 hasAuthorship W3129120210A5023514057 @default.
• W3129120210 hasAuthorship W3129120210A5044019180 @default.
• W3129120210 hasConcept C104317684 @default.
• W3129120210 hasConcept C54355233 @default.
• W3129120210 hasConcept C69991583 @default.
• W3129120210 hasConcept C86803240 @default.
• W3129120210 hasConceptScore W3129120210C104317684 @default.
• W3129120210 hasConceptScore W3129120210C54355233 @default.
• W3129120210 hasConceptScore W3129120210C69991583 @default.
• W3129120210 hasConceptScore W3129120210C86803240 @default.
• W3129120210 hasIssue "3" @default.
• W3129120210 hasLocation W31291202101 @default.
• W3129120210 hasOpenAccess W3129120210 @default.
• W3129120210 hasPrimaryLocation W31291202101 @default.
• W3129120210 hasRelatedWork W1975293247 @default.
• W3129120210 hasRelatedWork W2005096868 @default.
• W3129120210 hasRelatedWork W2078815200 @default.
• W3129120210 hasRelatedWork W2142976286 @default.
• W3129120210 hasRelatedWork W2143654019 @default.
• W3129120210 hasRelatedWork W2275577754 @default.
• W3129120210 hasRelatedWork W2363462410 @default.
• W3129120210 hasRelatedWork W2390539802 @default.

• next