Matches in SemOpenAlex for { <https://semopenalex.org/work/W3036768099> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W3036768099 endingPage "103981" @default.
- W3036768099 startingPage "103981" @default.
- W3036768099 abstract "Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with recessively inherited variants in Neurogenin-3 (NEUROG3) gene. Here we investigate a case of a male infant who presented with mysterious severe malabsorptive diarrhea since birth. Thorough clinical assessments and laboratory tests were successful to exclude the majority of differential diagnosis categories. However, the patient's diagnosis was not established until the genetic test using whole-exome sequencing (WES) was performed. We identified a novel homozygous missense disease-causing variant (DCV) in NEUROG3 (c.413C>G, p.Thr138Arg). Moreover, molecular dynamic simulation analysis showed that (p.Thr138Arg) led to a global change of the NEUROG3 orientation affecting its DNA binding capacity. To the best of our knowledge, this is the first time to apply WES to reach a differential diagnosis of patients with CODEs. Our study not only expands our knowledge about NEUROG3 variants and their clinical consequences but also proves that WES is a very effective tool for the diagnosis of CODEs. This might be of value in early diagnosis of diseases and prenatal CODEs detection." @default.
- W3036768099 created "2020-06-25" @default.
- W3036768099 creator A5002235102 @default.
- W3036768099 creator A5017949345 @default.
- W3036768099 creator A5033665986 @default.
- W3036768099 creator A5034716236 @default.
- W3036768099 creator A5068422300 @default.
- W3036768099 creator A5077491924 @default.
- W3036768099 creator A5086326893 @default.
- W3036768099 creator A5086927718 @default.
- W3036768099 creator A5087535769 @default.
- W3036768099 date "2020-09-01" @default.
- W3036768099 modified "2023-10-14" @default.
- W3036768099 title "Enteric anendocrinosis attributable to a novel Neurogenin-3 variant" @default.
- W3036768099 cites W1590056822 @default.
- W3036768099 cites W1966045237 @default.
- W3036768099 cites W2002907969 @default.
- W3036768099 cites W2029446336 @default.
- W3036768099 cites W2040637349 @default.
- W3036768099 cites W2054469780 @default.
- W3036768099 cites W2083116854 @default.
- W3036768099 cites W2103433170 @default.
- W3036768099 cites W2119780617 @default.
- W3036768099 cites W2129157296 @default.
- W3036768099 cites W2137987484 @default.
- W3036768099 cites W2155666770 @default.
- W3036768099 cites W2160400743 @default.
- W3036768099 cites W2169745228 @default.
- W3036768099 cites W2507471445 @default.
- W3036768099 cites W2737349053 @default.
- W3036768099 cites W2760123558 @default.
- W3036768099 cites W2797818426 @default.
- W3036768099 cites W2948903363 @default.
- W3036768099 cites W2953655852 @default.
- W3036768099 cites W2992071900 @default.
- W3036768099 doi "https://doi.org/10.1016/j.ejmg.2020.103981" @default.
- W3036768099 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32574610" @default.
- W3036768099 hasPublicationYear "2020" @default.
- W3036768099 type Work @default.
- W3036768099 sameAs 3036768099 @default.
- W3036768099 citedByCount "4" @default.
- W3036768099 countsByYear W30367680992020 @default.
- W3036768099 countsByYear W30367680992022 @default.
- W3036768099 crossrefType "journal-article" @default.
- W3036768099 hasAuthorship W3036768099A5002235102 @default.
- W3036768099 hasAuthorship W3036768099A5017949345 @default.
- W3036768099 hasAuthorship W3036768099A5033665986 @default.
- W3036768099 hasAuthorship W3036768099A5034716236 @default.
- W3036768099 hasAuthorship W3036768099A5068422300 @default.
- W3036768099 hasAuthorship W3036768099A5077491924 @default.
- W3036768099 hasAuthorship W3036768099A5086326893 @default.
- W3036768099 hasAuthorship W3036768099A5086927718 @default.
- W3036768099 hasAuthorship W3036768099A5087535769 @default.
- W3036768099 hasConcept C54355233 @default.
- W3036768099 hasConcept C86803240 @default.
- W3036768099 hasConceptScore W3036768099C54355233 @default.
- W3036768099 hasConceptScore W3036768099C86803240 @default.
- W3036768099 hasIssue "9" @default.
- W3036768099 hasLocation W30367680991 @default.
- W3036768099 hasOpenAccess W3036768099 @default.
- W3036768099 hasPrimaryLocation W30367680991 @default.
- W3036768099 hasRelatedWork W1991523530 @default.
- W3036768099 hasRelatedWork W2002128513 @default.
- W3036768099 hasRelatedWork W2020824267 @default.
- W3036768099 hasRelatedWork W2020838698 @default.
- W3036768099 hasRelatedWork W2031436818 @default.
- W3036768099 hasRelatedWork W2057739827 @default.
- W3036768099 hasRelatedWork W2075354549 @default.
- W3036768099 hasRelatedWork W2077810335 @default.
- W3036768099 hasRelatedWork W2119103177 @default.
- W3036768099 hasRelatedWork W2092874662 @default.
- W3036768099 hasVolume "63" @default.
- W3036768099 isParatext "false" @default.
- W3036768099 isRetracted "false" @default.
- W3036768099 magId "3036768099" @default.
- W3036768099 workType "article" @default.