FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2946682017> ?p ?o ?g. }

• W2946682017 endingPage "161" @default.
• W2946682017 startingPage "156" @default.
• W2946682017 abstract "Background Mutations in the FGD4 gene cause an autosomal recessive demyelinating peripheral neuropathy referred to as CMT4H, characterized by its onset in infancy or early-childhood and its slow progression. Methods The clinical and genetic status of two patients with CMT4H was studied, performing genetic testing with a panel of genes and analysing FGD4 mRNA expression by quantitative PCR. Results Two novel FGD4 variants (c.514delG and c.2211dupA) were identified in two mildly affected Spanish siblings with CMT4H, and with disease onset in late adolescence/adulthood (one of them remaining asymptomatic at 20). On examination, foot deformity was observed without weakness or sensory involvement, and in the muscles of the lower extremities magnetic resonance imaging showed no fat replacement. Further analysis of FGD4 expression in peripheral blood suggested that neither mutation affected splicing, nor did they affect the dosage of FGD4 mRNA (compared to a healthy control). It was predicted that each allele would produce a truncated protein, p.Ala172Glnfs*28 (c.514delG) and p.Ala738Serfs*5 (c.2211dupA), the latter containing all the functional domains of the native protein. Conclusions The conservation of functional domains in the proteins produced from the FGD4 gene of two patients with CMT4H, could explain both the milder phenotype and the later disease onset in these patients. These results expand the clinical and mutational spectrum of FGD4-related peripheral neuropathies." @default.
• W2946682017 created "2019-05-29" @default.
• W2946682017 creator A5005727866 @default.
• W2946682017 creator A5008820883 @default.
• W2946682017 creator A5010159667 @default.
• W2946682017 creator A5030852023 @default.
• W2946682017 creator A5033135766 @default.
• W2946682017 creator A5033765818 @default.
• W2946682017 creator A5040634615 @default.
• W2946682017 creator A5044571982 @default.
• W2946682017 creator A5047783847 @default.
• W2946682017 creator A5089433804 @default.
• W2946682017 date "2019-07-01" @default.
• W2946682017 modified "2023-09-27" @default.
• W2946682017 title "A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4" @default.
• W2946682017 cites W1538799821 @default.
• W2946682017 cites W1964029789 @default.
• W2946682017 cites W1966111825 @default.
• W2946682017 cites W2000038554 @default.
• W2946682017 cites W2007819094 @default.
• W2946682017 cites W2020038710 @default.
• W2946682017 cites W2020176916 @default.
• W2946682017 cites W2035855619 @default.
• W2946682017 cites W2049636313 @default.
• W2946682017 cites W2059771026 @default.
• W2946682017 cites W2094365682 @default.
• W2946682017 cites W2096581957 @default.
• W2946682017 cites W2142936846 @default.
• W2946682017 cites W2691418197 @default.
• W2946682017 cites W2737335104 @default.
• W2946682017 cites W4246269577 @default.
• W2946682017 doi "https://doi.org/10.1016/j.jns.2019.05.015" @default.
• W2946682017 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31152969" @default.
• W2946682017 hasPublicationYear "2019" @default.
• W2946682017 type Work @default.
• W2946682017 sameAs 2946682017 @default.
• W2946682017 citedByCount "6" @default.
• W2946682017 countsByYear W29466820172021 @default.
• W2946682017 countsByYear W29466820172022 @default.
• W2946682017 crossrefType "journal-article" @default.
• W2946682017 hasAuthorship W2946682017A5005727866 @default.
• W2946682017 hasAuthorship W2946682017A5008820883 @default.
• W2946682017 hasAuthorship W2946682017A5010159667 @default.
• W2946682017 hasAuthorship W2946682017A5030852023 @default.
• W2946682017 hasAuthorship W2946682017A5033135766 @default.
• W2946682017 hasAuthorship W2946682017A5033765818 @default.
• W2946682017 hasAuthorship W2946682017A5040634615 @default.
• W2946682017 hasAuthorship W2946682017A5044571982 @default.
• W2946682017 hasAuthorship W2946682017A5047783847 @default.
• W2946682017 hasAuthorship W2946682017A5089433804 @default.
• W2946682017 hasConcept C104317684 @default.
• W2946682017 hasConcept C12125453 @default.
• W2946682017 hasConcept C127716648 @default.
• W2946682017 hasConcept C134018914 @default.
• W2946682017 hasConcept C137916694 @default.
• W2946682017 hasConcept C142724271 @default.
• W2946682017 hasConcept C180754005 @default.
• W2946682017 hasConcept C2777767895 @default.
• W2946682017 hasConcept C2777910003 @default.
• W2946682017 hasConcept C2779134260 @default.
• W2946682017 hasConcept C2779901536 @default.
• W2946682017 hasConcept C501734568 @default.
• W2946682017 hasConcept C54355233 @default.
• W2946682017 hasConcept C555293320 @default.
• W2946682017 hasConcept C71924100 @default.
• W2946682017 hasConcept C86803240 @default.
• W2946682017 hasConceptScore W2946682017C104317684 @default.
• W2946682017 hasConceptScore W2946682017C12125453 @default.
• W2946682017 hasConceptScore W2946682017C127716648 @default.
• W2946682017 hasConceptScore W2946682017C134018914 @default.
• W2946682017 hasConceptScore W2946682017C137916694 @default.
• W2946682017 hasConceptScore W2946682017C142724271 @default.
• W2946682017 hasConceptScore W2946682017C180754005 @default.
• W2946682017 hasConceptScore W2946682017C2777767895 @default.
• W2946682017 hasConceptScore W2946682017C2777910003 @default.
• W2946682017 hasConceptScore W2946682017C2779134260 @default.
• W2946682017 hasConceptScore W2946682017C2779901536 @default.
• W2946682017 hasConceptScore W2946682017C501734568 @default.
• W2946682017 hasConceptScore W2946682017C54355233 @default.
• W2946682017 hasConceptScore W2946682017C555293320 @default.
• W2946682017 hasConceptScore W2946682017C71924100 @default.
• W2946682017 hasConceptScore W2946682017C86803240 @default.
• W2946682017 hasFunder F4320308611 @default.
• W2946682017 hasFunder F4320321864 @default.
• W2946682017 hasFunder F4320334923 @default.
• W2946682017 hasLocation W29466820171 @default.
• W2946682017 hasLocation W29466820172 @default.
• W2946682017 hasOpenAccess W2946682017 @default.
• W2946682017 hasPrimaryLocation W29466820171 @default.
• W2946682017 hasRelatedWork W1975253683 @default.
• W2946682017 hasRelatedWork W2013166796 @default.
• W2946682017 hasRelatedWork W2031464773 @default.
• W2946682017 hasRelatedWork W2034211922 @default.
• W2946682017 hasRelatedWork W2044992835 @default.
• W2946682017 hasRelatedWork W2096126850 @default.
• W2946682017 hasRelatedWork W2110607411 @default.
• W2946682017 hasRelatedWork W2147323493 @default.
• W2946682017 hasRelatedWork W2799459747 @default.

• next