FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4200301984> ?p ?o ?g. }

• W4200301984 endingPage "1082" @default.
• W4200301984 startingPage "1075" @default.
• W4200301984 abstract "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by epileptic seizures, macrocephaly, and vacuolization of myelin and astrocyte. The magnetic resonance imaging of the brain of MLC patients shows diffuse white-matter anomalies and the occurrence of subcortical cysts. MLC features have been observed in individuals having mutations in the MLC1 or HEPACAM genes. In this study, we recruited a six generation large kindred with five affected individuals manifesting clinical features of epileptic seizures, macrocephaly, ataxia, and spasticity. In order to identify the underlying genetic cause of the clinical features, we performed whole-genome genotyping using Illumina microarray followed by detection of loss of heterozygosity (LOHs) regions. One affected individual was exome sequenced as well. Homozygosity mapping detected several LOH regions due to extensive consanguinity. An unbiased and hypothesis-free exome data analysis identified a homozygous missense variant (NM_015166.3:c.278C>T) in the exon 4 of the MLC1 gene. The variant is present in the LOH region on chromosome 22q (50 Mb) and segregates perfectly with the disorder within the family in an autosomal recessive manner. The variant is present in a highly conserved first cytoplasmic domain of the MLC1 protein (NM_015166.3:p.(Ser93Leu)). Interestingly, heterozygous individuals show seizure and mild motor function deterioration. We propose that the heterozygous variant in MLC1 might disrupt the functional interaction of MLC1 with GlialCAM resulting in mild clinical features in carriers of the variant." @default.
• W4200301984 created "2021-12-31" @default.
• W4200301984 creator A5016891326 @default.
• W4200301984 creator A5021492500 @default.
• W4200301984 creator A5036249625 @default.
• W4200301984 creator A5037509365 @default.
• W4200301984 creator A5046503302 @default.
• W4200301984 creator A5065192913 @default.
• W4200301984 creator A5084623688 @default.
• W4200301984 date "2021-12-17" @default.
• W4200301984 modified "2023-10-17" @default.
• W4200301984 title "A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration" @default.
• W4200301984 cites W1528710848 @default.
• W4200301984 cites W1550029786 @default.
• W4200301984 cites W1969732948 @default.
• W4200301984 cites W2041554964 @default.
• W4200301984 cites W2042698280 @default.
• W4200301984 cites W2043347452 @default.
• W4200301984 cites W2068829489 @default.
• W4200301984 cites W2093857516 @default.
• W4200301984 cites W2103269586 @default.
• W4200301984 cites W2107607132 @default.
• W4200301984 cites W2131958833 @default.
• W4200301984 cites W2158093773 @default.
• W4200301984 cites W2604510668 @default.
• W4200301984 cites W2790583986 @default.
• W4200301984 cites W2817319551 @default.
• W4200301984 cites W2886352009 @default.
• W4200301984 cites W2965926258 @default.
• W4200301984 cites W2990647082 @default.
• W4200301984 cites W2996861030 @default.
• W4200301984 cites W3001301435 @default.
• W4200301984 cites W3092760061 @default.
• W4200301984 cites W3197336708 @default.
• W4200301984 cites W3198921941 @default.
• W4200301984 doi "https://doi.org/10.1002/ajmg.a.62614" @default.
• W4200301984 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34918859" @default.
• W4200301984 hasPublicationYear "2021" @default.
• W4200301984 type Work @default.
• W4200301984 citedByCount "1" @default.
• W4200301984 countsByYear W42003019842022 @default.
• W4200301984 crossrefType "journal-article" @default.
• W4200301984 hasAuthorship W4200301984A5016891326 @default.
• W4200301984 hasAuthorship W4200301984A5021492500 @default.
• W4200301984 hasAuthorship W4200301984A5036249625 @default.
• W4200301984 hasAuthorship W4200301984A5037509365 @default.
• W4200301984 hasAuthorship W4200301984A5046503302 @default.
• W4200301984 hasAuthorship W4200301984A5065192913 @default.
• W4200301984 hasAuthorship W4200301984A5084623688 @default.
• W4200301984 hasConcept C104317684 @default.
• W4200301984 hasConcept C10590036 @default.
• W4200301984 hasConcept C12125453 @default.
• W4200301984 hasConcept C130895681 @default.
• W4200301984 hasConcept C142724271 @default.
• W4200301984 hasConcept C143589142 @default.
• W4200301984 hasConcept C16671776 @default.
• W4200301984 hasConcept C180754005 @default.
• W4200301984 hasConcept C2776100374 @default.
• W4200301984 hasConcept C2778234038 @default.
• W4200301984 hasConcept C2778583010 @default.
• W4200301984 hasConcept C2779134260 @default.
• W4200301984 hasConcept C2781083543 @default.
• W4200301984 hasConcept C501734568 @default.
• W4200301984 hasConcept C54355233 @default.
• W4200301984 hasConcept C71924100 @default.
• W4200301984 hasConcept C75563809 @default.
• W4200301984 hasConcept C86803240 @default.
• W4200301984 hasConceptScore W4200301984C104317684 @default.
• W4200301984 hasConceptScore W4200301984C10590036 @default.
• W4200301984 hasConceptScore W4200301984C12125453 @default.
• W4200301984 hasConceptScore W4200301984C130895681 @default.
• W4200301984 hasConceptScore W4200301984C142724271 @default.
• W4200301984 hasConceptScore W4200301984C143589142 @default.
• W4200301984 hasConceptScore W4200301984C16671776 @default.
• W4200301984 hasConceptScore W4200301984C180754005 @default.
• W4200301984 hasConceptScore W4200301984C2776100374 @default.
• W4200301984 hasConceptScore W4200301984C2778234038 @default.
• W4200301984 hasConceptScore W4200301984C2778583010 @default.
• W4200301984 hasConceptScore W4200301984C2779134260 @default.
• W4200301984 hasConceptScore W4200301984C2781083543 @default.
• W4200301984 hasConceptScore W4200301984C501734568 @default.
• W4200301984 hasConceptScore W4200301984C54355233 @default.
• W4200301984 hasConceptScore W4200301984C71924100 @default.
• W4200301984 hasConceptScore W4200301984C75563809 @default.
• W4200301984 hasConceptScore W4200301984C86803240 @default.
• W4200301984 hasIssue "4" @default.
• W4200301984 hasLocation W42003019841 @default.
• W4200301984 hasLocation W42003019842 @default.
• W4200301984 hasOpenAccess W4200301984 @default.
• W4200301984 hasPrimaryLocation W42003019841 @default.
• W4200301984 hasRelatedWork W1988368560 @default.
• W4200301984 hasRelatedWork W2036468699 @default.
• W4200301984 hasRelatedWork W2045767269 @default.
• W4200301984 hasRelatedWork W2159173718 @default.
• W4200301984 hasRelatedWork W2319847 @default.
• W4200301984 hasRelatedWork W2408867675 @default.
• W4200301984 hasRelatedWork W2625779927 @default.
• W4200301984 hasRelatedWork W2795214204 @default.

• next