Matches in SemOpenAlex for { <https://semopenalex.org/work/W2891666482> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2891666482 endingPage "103537" @default.
- W2891666482 startingPage "103537" @default.
- W2891666482 abstract "Among the many regulators of microRNA formation, Argonaute 1 (AGO1) plays critical roles in RNA interference, which controls a wide range of biological activities. Recent large-scale genomic studies have identified at least five patients with intellectual disability/autism spectrum disorder who had de novo mutations in AGO1, but detailed clinical information was not available. The recognizable clinical features that are associated with AGO1 mutations remain to be determined. The proposita was a 15-year-old girl with diffuse hypotonia, infrequent seizures, and intellectual disability with an intelligence quotient of 41. She had characteristic facial features consisting of telecanthus, wide nasal bridge with bulbous nasal tip, and a round face with downslanted palpebral fissures. Serial computed tomography scans showed progressive calcification in the globus pallidus that became evident during childhood. A whole exome analysis in trio revealed a de novo heterozygous mutation in AGO1, i.e., c.595G > A p.(Gly199Ser). The distinctive facial features, i.e., telecanthus, wide nasal bridge with bulbous nasal tip, and a round face with downslanted palpebral fissures, closely resembled previously reported patients who had a chromosomal microdeletion encompassing AGO1 locus. The combinatory phenotype of such characteristic facial features and radiographic features, i.e. progressive calcification in the globus pallidus, in the presently reported patient suggest that AGO1 mutations lead to a syndromic form of intellectual disability/autism spectrum disorder. Distinctive facial features with early and progressive calcification in the globus pallidus may be suggestive of the presence of AGO1 mutations." @default.
- W2891666482 created "2018-09-27" @default.
- W2891666482 creator A5026657616 @default.
- W2891666482 creator A5034751328 @default.
- W2891666482 creator A5039599229 @default.
- W2891666482 creator A5058284522 @default.
- W2891666482 creator A5066447398 @default.
- W2891666482 creator A5079914333 @default.
- W2891666482 creator A5088798513 @default.
- W2891666482 date "2019-06-01" @default.
- W2891666482 modified "2023-10-17" @default.
- W2891666482 title "Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder" @default.
- W2891666482 cites W1483951471 @default.
- W2891666482 cites W1971624220 @default.
- W2891666482 cites W1989085627 @default.
- W2891666482 cites W2032287326 @default.
- W2891666482 cites W2051978340 @default.
- W2891666482 cites W2058423880 @default.
- W2891666482 cites W2069686313 @default.
- W2891666482 cites W2071273719 @default.
- W2891666482 cites W2074675420 @default.
- W2891666482 cites W2076375535 @default.
- W2891666482 cites W2090183355 @default.
- W2891666482 cites W2131104106 @default.
- W2891666482 cites W2138033133 @default.
- W2891666482 cites W2151492782 @default.
- W2891666482 cites W2161762684 @default.
- W2891666482 cites W2278487942 @default.
- W2891666482 cites W2415932927 @default.
- W2891666482 cites W2519015349 @default.
- W2891666482 doi "https://doi.org/10.1016/j.ejmg.2018.09.004" @default.
- W2891666482 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30213762" @default.
- W2891666482 hasPublicationYear "2019" @default.
- W2891666482 type Work @default.
- W2891666482 sameAs 2891666482 @default.
- W2891666482 citedByCount "16" @default.
- W2891666482 countsByYear W28916664822020 @default.
- W2891666482 countsByYear W28916664822021 @default.
- W2891666482 countsByYear W28916664822022 @default.
- W2891666482 countsByYear W28916664822023 @default.
- W2891666482 crossrefType "journal-article" @default.
- W2891666482 hasAuthorship W2891666482A5026657616 @default.
- W2891666482 hasAuthorship W2891666482A5034751328 @default.
- W2891666482 hasAuthorship W2891666482A5039599229 @default.
- W2891666482 hasAuthorship W2891666482A5058284522 @default.
- W2891666482 hasAuthorship W2891666482A5066447398 @default.
- W2891666482 hasAuthorship W2891666482A5079914333 @default.
- W2891666482 hasAuthorship W2891666482A5088798513 @default.
- W2891666482 hasConcept C118552586 @default.
- W2891666482 hasConcept C142724271 @default.
- W2891666482 hasConcept C205778803 @default.
- W2891666482 hasConcept C2778538070 @default.
- W2891666482 hasConcept C54355233 @default.
- W2891666482 hasConcept C551499885 @default.
- W2891666482 hasConcept C71924100 @default.
- W2891666482 hasConcept C86803240 @default.
- W2891666482 hasConceptScore W2891666482C118552586 @default.
- W2891666482 hasConceptScore W2891666482C142724271 @default.
- W2891666482 hasConceptScore W2891666482C205778803 @default.
- W2891666482 hasConceptScore W2891666482C2778538070 @default.
- W2891666482 hasConceptScore W2891666482C54355233 @default.
- W2891666482 hasConceptScore W2891666482C551499885 @default.
- W2891666482 hasConceptScore W2891666482C71924100 @default.
- W2891666482 hasConceptScore W2891666482C86803240 @default.
- W2891666482 hasFunder F4320311405 @default.
- W2891666482 hasFunder F4320321945 @default.
- W2891666482 hasIssue "6" @default.
- W2891666482 hasLocation W28916664821 @default.
- W2891666482 hasLocation W28916664822 @default.
- W2891666482 hasOpenAccess W2891666482 @default.
- W2891666482 hasPrimaryLocation W28916664821 @default.
- W2891666482 hasRelatedWork W1995350144 @default.
- W2891666482 hasRelatedWork W2013497658 @default.
- W2891666482 hasRelatedWork W2227393071 @default.
- W2891666482 hasRelatedWork W2601691194 @default.
- W2891666482 hasRelatedWork W3121111470 @default.
- W2891666482 hasRelatedWork W3133980636 @default.
- W2891666482 hasRelatedWork W4280602684 @default.
- W2891666482 hasRelatedWork W4310092953 @default.
- W2891666482 hasRelatedWork W589679218 @default.
- W2891666482 hasRelatedWork W620566831 @default.
- W2891666482 hasVolume "62" @default.
- W2891666482 isParatext "false" @default.
- W2891666482 isRetracted "false" @default.
- W2891666482 magId "2891666482" @default.
- W2891666482 workType "article" @default.