Matches in SemOpenAlex for { <https://semopenalex.org/work/W2533497515> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W2533497515 endingPage "109" @default.
- W2533497515 startingPage "105" @default.
- W2533497515 abstract "Introduction Hypospadias is a multifactorial malformation. Among previously described genes, the MAMLD1 has recently been identified in association with the development of hypospadias. So far, there are no studies in Latin America addressing this gene. The aim of this paper is to describe the presence of variants in exon 3 of the MAMLD1 in our population. Materials and Methods Using the Bio-Repository's database of the Human Genetics Institute, we identified 51 patients between 2008 and 2012 with varying degrees of isolated hypospadias. Exon 3 was sequenced looking for polymorphisms. These were assessed with in silico prediction algorithms to describe the effect of these changes on the function and structure of the protein. Results Four patients with 3 variants were identified. The p.S364P variant has not been previously described and has a deleterious effect. The other two, rs41313406 and rs61740566, have been previously described and are not considered variations with harmful effect on the protein function. The genotype-phenotype correlation varies in severity between the variables described. Conclusions For the first time a Latin American population is molecularly analyzed. The p.S364P variation has never been described before. Variations with different degrees of hypospadias are described." @default.
- W2533497515 created "2016-10-28" @default.
- W2533497515 creator A5032231697 @default.
- W2533497515 creator A5042551713 @default.
- W2533497515 creator A5046739626 @default.
- W2533497515 creator A5064251044 @default.
- W2533497515 creator A5068977597 @default.
- W2533497515 creator A5072518529 @default.
- W2533497515 date "2018-01-10" @default.
- W2533497515 modified "2023-10-07" @default.
- W2533497515 title "Description of a novel variant in the MAMLD1 gene in isolated hypospadias" @default.
- W2533497515 cites W1538205835 @default.
- W2533497515 cites W1963737110 @default.
- W2533497515 cites W1982642357 @default.
- W2533497515 cites W1992392481 @default.
- W2533497515 cites W2037661444 @default.
- W2533497515 cites W2053672179 @default.
- W2533497515 cites W2068645369 @default.
- W2533497515 cites W2081902464 @default.
- W2533497515 cites W2084047219 @default.
- W2533497515 cites W2122051882 @default.
- W2533497515 cites W2144899898 @default.
- W2533497515 doi "https://doi.org/10.1016/j.uroco.2016.09.001" @default.
- W2533497515 hasPublicationYear "2018" @default.
- W2533497515 type Work @default.
- W2533497515 sameAs 2533497515 @default.
- W2533497515 citedByCount "1" @default.
- W2533497515 countsByYear W25334975152022 @default.
- W2533497515 crossrefType "journal-article" @default.
- W2533497515 hasAuthorship W2533497515A5032231697 @default.
- W2533497515 hasAuthorship W2533497515A5042551713 @default.
- W2533497515 hasAuthorship W2533497515A5046739626 @default.
- W2533497515 hasAuthorship W2533497515A5064251044 @default.
- W2533497515 hasAuthorship W2533497515A5068977597 @default.
- W2533497515 hasAuthorship W2533497515A5072518529 @default.
- W2533497515 hasBestOaLocation W25334975151 @default.
- W2533497515 hasConcept C104317684 @default.
- W2533497515 hasConcept C127716648 @default.
- W2533497515 hasConcept C135763542 @default.
- W2533497515 hasConcept C14036430 @default.
- W2533497515 hasConcept C200844832 @default.
- W2533497515 hasConcept C2775905019 @default.
- W2533497515 hasConcept C2777990738 @default.
- W2533497515 hasConcept C2908647359 @default.
- W2533497515 hasConcept C36823959 @default.
- W2533497515 hasConcept C54355233 @default.
- W2533497515 hasConcept C68873052 @default.
- W2533497515 hasConcept C70721500 @default.
- W2533497515 hasConcept C71924100 @default.
- W2533497515 hasConcept C78458016 @default.
- W2533497515 hasConcept C86803240 @default.
- W2533497515 hasConcept C99454951 @default.
- W2533497515 hasConceptScore W2533497515C104317684 @default.
- W2533497515 hasConceptScore W2533497515C127716648 @default.
- W2533497515 hasConceptScore W2533497515C135763542 @default.
- W2533497515 hasConceptScore W2533497515C14036430 @default.
- W2533497515 hasConceptScore W2533497515C200844832 @default.
- W2533497515 hasConceptScore W2533497515C2775905019 @default.
- W2533497515 hasConceptScore W2533497515C2777990738 @default.
- W2533497515 hasConceptScore W2533497515C2908647359 @default.
- W2533497515 hasConceptScore W2533497515C36823959 @default.
- W2533497515 hasConceptScore W2533497515C54355233 @default.
- W2533497515 hasConceptScore W2533497515C68873052 @default.
- W2533497515 hasConceptScore W2533497515C70721500 @default.
- W2533497515 hasConceptScore W2533497515C71924100 @default.
- W2533497515 hasConceptScore W2533497515C78458016 @default.
- W2533497515 hasConceptScore W2533497515C86803240 @default.
- W2533497515 hasConceptScore W2533497515C99454951 @default.
- W2533497515 hasIssue "01" @default.
- W2533497515 hasLocation W25334975151 @default.
- W2533497515 hasOpenAccess W2533497515 @default.
- W2533497515 hasPrimaryLocation W25334975151 @default.
- W2533497515 hasRelatedWork W2025851750 @default.
- W2533497515 hasRelatedWork W2035919360 @default.
- W2533497515 hasRelatedWork W2039352533 @default.
- W2533497515 hasRelatedWork W2059736436 @default.
- W2533497515 hasRelatedWork W2066896740 @default.
- W2533497515 hasRelatedWork W2090999728 @default.
- W2533497515 hasRelatedWork W2143066563 @default.
- W2533497515 hasRelatedWork W2157166663 @default.
- W2533497515 hasRelatedWork W2168467210 @default.
- W2533497515 hasRelatedWork W2214837038 @default.
- W2533497515 hasVolume "27" @default.
- W2533497515 isParatext "false" @default.
- W2533497515 isRetracted "false" @default.
- W2533497515 magId "2533497515" @default.
- W2533497515 workType "article" @default.