FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4324149085> ?p ?o ?g. }

• W4324149085 endingPage "707" @default.
• W4324149085 startingPage "707" @default.
• W4324149085 abstract "GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, intellectual disability (ID), and motor dysfunction. Whole exome sequencing of a Pakistani consanguineous family with three brothers affected by ID, cerebral atrophy, mobility, and speech impairment revealed a novel homozygous 3bp-deletion NM_015465.5:c.3162_3164del that leads to the loss of NM_015465.5 (NP_056280.2):p. (Asp1054_Ala1055delinsGlu) amino acid in one of the α-helixes of the tetratricopeptide repeats of GEMIN5. In silico 3D representations of the GEMIN5 dimerization domain show that this variant likely affects the orientation of the downstream sidechains out of the helix axis, which would affect the packing with neighboring helices. The phenotype of all affected siblings overlaps well with previously reported patients, suggesting that NM_015465.5: c.3162_3164del (NP_056280.2):p. (Asp1054_Ala1055delinsGlu) is a novel GEMIN5 pathogenic variant. Overall, our data expands the molecular and clinical phenotype of the recently described neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) syndrome." @default.
• W4324149085 created "2023-03-15" @default.
• W4324149085 creator A5014464174 @default.
• W4324149085 creator A5027995457 @default.
• W4324149085 creator A5032218569 @default.
• W4324149085 creator A5041433991 @default.
• W4324149085 creator A5050609179 @default.
• W4324149085 creator A5054186469 @default.
• W4324149085 creator A5061125796 @default.
• W4324149085 creator A5069002308 @default.
• W4324149085 date "2023-03-13" @default.
• W4324149085 modified "2023-09-30" @default.
• W4324149085 title "A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy" @default.
• W4324149085 cites W1981531251 @default.
• W4324149085 cites W1988240954 @default.
• W4324149085 cites W1996777571 @default.
• W4324149085 cites W1999877750 @default.
• W4324149085 cites W2012227432 @default.
• W4324149085 cites W2045392412 @default.
• W4324149085 cites W2051978340 @default.
• W4324149085 cites W2055932576 @default.
• W4324149085 cites W2103441770 @default.
• W4324149085 cites W2116635614 @default.
• W4324149085 cites W2119180969 @default.
• W4324149085 cites W2151114041 @default.
• W4324149085 cites W2156585885 @default.
• W4324149085 cites W2166995897 @default.
• W4324149085 cites W2503100207 @default.
• W4324149085 cites W2503812689 @default.
• W4324149085 cites W2511208856 @default.
• W4324149085 cites W2514165383 @default.
• W4324149085 cites W2928821972 @default.
• W4324149085 cites W2946934197 @default.
• W4324149085 cites W2951249912 @default.
• W4324149085 cites W2993678631 @default.
• W4324149085 cites W2999300644 @default.
• W4324149085 cites W3017675472 @default.
• W4324149085 cites W3030886859 @default.
• W4324149085 cites W3157363683 @default.
• W4324149085 cites W3195593380 @default.
• W4324149085 cites W3202151818 @default.
• W4324149085 cites W3213337946 @default.
• W4324149085 cites W4200156935 @default.
• W4324149085 cites W4214609072 @default.
• W4324149085 cites W4223602826 @default.
• W4324149085 cites W4223960325 @default.
• W4324149085 cites W4293493122 @default.
• W4324149085 doi "https://doi.org/10.3390/genes14030707" @default.
• W4324149085 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36980979" @default.
• W4324149085 hasPublicationYear "2023" @default.
• W4324149085 type Work @default.
• W4324149085 citedByCount "0" @default.
• W4324149085 crossrefType "journal-article" @default.
• W4324149085 hasAuthorship W4324149085A5014464174 @default.
• W4324149085 hasAuthorship W4324149085A5027995457 @default.
• W4324149085 hasAuthorship W4324149085A5032218569 @default.
• W4324149085 hasAuthorship W4324149085A5041433991 @default.
• W4324149085 hasAuthorship W4324149085A5050609179 @default.
• W4324149085 hasAuthorship W4324149085A5054186469 @default.
• W4324149085 hasAuthorship W4324149085A5061125796 @default.
• W4324149085 hasAuthorship W4324149085A5069002308 @default.
• W4324149085 hasBestOaLocation W43241490851 @default.
• W4324149085 hasConcept C104317684 @default.
• W4324149085 hasConcept C10590036 @default.
• W4324149085 hasConcept C127716648 @default.
• W4324149085 hasConcept C16671776 @default.
• W4324149085 hasConcept C169760540 @default.
• W4324149085 hasConcept C180754005 @default.
• W4324149085 hasConcept C188018408 @default.
• W4324149085 hasConcept C2779717322 @default.
• W4324149085 hasConcept C2781172350 @default.
• W4324149085 hasConcept C36823959 @default.
• W4324149085 hasConcept C54355233 @default.
• W4324149085 hasConcept C551499885 @default.
• W4324149085 hasConcept C75563809 @default.
• W4324149085 hasConcept C86803240 @default.
• W4324149085 hasConceptScore W4324149085C104317684 @default.
• W4324149085 hasConceptScore W4324149085C10590036 @default.
• W4324149085 hasConceptScore W4324149085C127716648 @default.
• W4324149085 hasConceptScore W4324149085C16671776 @default.
• W4324149085 hasConceptScore W4324149085C169760540 @default.
• W4324149085 hasConceptScore W4324149085C180754005 @default.
• W4324149085 hasConceptScore W4324149085C188018408 @default.
• W4324149085 hasConceptScore W4324149085C2779717322 @default.
• W4324149085 hasConceptScore W4324149085C2781172350 @default.
• W4324149085 hasConceptScore W4324149085C36823959 @default.
• W4324149085 hasConceptScore W4324149085C54355233 @default.
• W4324149085 hasConceptScore W4324149085C551499885 @default.
• W4324149085 hasConceptScore W4324149085C75563809 @default.
• W4324149085 hasConceptScore W4324149085C86803240 @default.
• W4324149085 hasFunder F4320320889 @default.
• W4324149085 hasFunder F4320320924 @default.
• W4324149085 hasIssue "3" @default.
• W4324149085 hasLocation W43241490851 @default.
• W4324149085 hasLocation W43241490852 @default.
• W4324149085 hasLocation W43241490853 @default.
• W4324149085 hasLocation W43241490854 @default.
• W4324149085 hasLocation W43241490855 @default.

• next