FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3158192500> ?p ?o ?g. }

• W3158192500 endingPage "e155" @default.
• W3158192500 startingPage "e145" @default.
• W3158192500 abstract "To determine the molecular basis of a new monogenetic recessive disorder that results in familial autonomic ganglionopathy with diffuse autonomic failure.Two adult siblings from one family (I-4 and I-5) and another participant from a second family (II-3) presented with severe neurogenic orthostatic hypotension (nOH), small nonreactive pupils, and constipation. All 3 affected members had low norepinephrine levels and diffuse panautonomic failure.Whole exome sequencing of DNA from I-4 and I-5 showed compound heterozygosity for c.907_908delCT (p.L303Dfs*115)/c.688 G>A (p.D230N) pathologic variants in the acetylcholine receptor, neuronal nicotinic, α3 subunit gene (CHRNA3). II-3 from the second family was homozygous for the same frameshift (fs) variant (p.L303Dfs*115//p.L303Dfs*115). CHRNA3 encodes a critical subunit of the nicotinic acetylcholine receptors (nAChRs) responsible for fast synaptic transmission in the autonomic ganglia. The fs variant is clearly pathogenic and the p.D230N variant is predicted to be damaging (SIFT)/probably damaging (PolyPhen2). The p.D230N variant lies on the interface between CHRNA3 and other nAChR subunits based on structural modeling and is predicted to destabilize the nAChR pentameric complex.We report a novel genetic disease that affected 3 individuals from 2 unrelated families who presented with severe nOH, miosis, and constipation. These patients had rare pathologic variants in the CHRNA3 gene that cosegregate with and are predicted to be the likely cause of their diffuse panautonomic failure." @default.
• W3158192500 created "2021-05-10" @default.
• W3158192500 creator A5003259889 @default.
• W3158192500 creator A5005913399 @default.
• W3158192500 creator A5006293085 @default.
• W3158192500 creator A5009935328 @default.
• W3158192500 creator A5017645655 @default.
• W3158192500 creator A5031316607 @default.
• W3158192500 creator A5032394611 @default.
• W3158192500 creator A5035714683 @default.
• W3158192500 creator A5040165163 @default.
• W3158192500 creator A5046955385 @default.
• W3158192500 creator A5050648144 @default.
• W3158192500 creator A5051204878 @default.
• W3158192500 creator A5075023441 @default.
• W3158192500 creator A5076447212 @default.
• W3158192500 creator A5079692584 @default.
• W3158192500 date "2021-07-13" @default.
• W3158192500 modified "2023-10-12" @default.
• W3158192500 title "Familial Autonomic Ganglionopathy Caused by Rare <i>CHRNA3</i> Genetic Variants" @default.
• W3158192500 cites W1466648982 @default.
• W3158192500 cites W149216698 @default.
• W3158192500 cites W1808711893 @default.
• W3158192500 cites W1975843894 @default.
• W3158192500 cites W1977574579 @default.
• W3158192500 cites W1980265301 @default.
• W3158192500 cites W1985872887 @default.
• W3158192500 cites W1988534299 @default.
• W3158192500 cites W2030075669 @default.
• W3158192500 cites W2049798163 @default.
• W3158192500 cites W2055289824 @default.
• W3158192500 cites W2068521481 @default.
• W3158192500 cites W2087322817 @default.
• W3158192500 cites W2089966043 @default.
• W3158192500 cites W2112442665 @default.
• W3158192500 cites W2113904137 @default.
• W3158192500 cites W2132350602 @default.
• W3158192500 cites W2132629607 @default.
• W3158192500 cites W2138956466 @default.
• W3158192500 cites W2146586474 @default.
• W3158192500 cites W2153457180 @default.
• W3158192500 cites W2157661840 @default.
• W3158192500 cites W2163800681 @default.
• W3158192500 cites W2251814725 @default.
• W3158192500 cites W2341201500 @default.
• W3158192500 cites W2591564563 @default.
• W3158192500 cites W2611347856 @default.
• W3158192500 cites W2774300852 @default.
• W3158192500 cites W2782621318 @default.
• W3158192500 cites W2786506455 @default.
• W3158192500 cites W2971678462 @default.
• W3158192500 cites W2984990413 @default.
• W3158192500 doi "https://doi.org/10.1212/wnl.0000000000012143" @default.
• W3158192500 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8279568" @default.
• W3158192500 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33947782" @default.
• W3158192500 hasPublicationYear "2021" @default.
• W3158192500 type Work @default.
• W3158192500 sameAs 3158192500 @default.
• W3158192500 citedByCount "9" @default.
• W3158192500 countsByYear W31581925002021 @default.
• W3158192500 countsByYear W31581925002022 @default.
• W3158192500 countsByYear W31581925002023 @default.
• W3158192500 crossrefType "journal-article" @default.
• W3158192500 hasAuthorship W3158192500A5003259889 @default.
• W3158192500 hasAuthorship W3158192500A5005913399 @default.
• W3158192500 hasAuthorship W3158192500A5006293085 @default.
• W3158192500 hasAuthorship W3158192500A5009935328 @default.
• W3158192500 hasAuthorship W3158192500A5017645655 @default.
• W3158192500 hasAuthorship W3158192500A5031316607 @default.
• W3158192500 hasAuthorship W3158192500A5032394611 @default.
• W3158192500 hasAuthorship W3158192500A5035714683 @default.
• W3158192500 hasAuthorship W3158192500A5040165163 @default.
• W3158192500 hasAuthorship W3158192500A5046955385 @default.
• W3158192500 hasAuthorship W3158192500A5050648144 @default.
• W3158192500 hasAuthorship W3158192500A5051204878 @default.
• W3158192500 hasAuthorship W3158192500A5075023441 @default.
• W3158192500 hasAuthorship W3158192500A5076447212 @default.
• W3158192500 hasAuthorship W3158192500A5079692584 @default.
• W3158192500 hasBestOaLocation W31581925002 @default.
• W3158192500 hasConcept C104317684 @default.
• W3158192500 hasConcept C12125453 @default.
• W3158192500 hasConcept C126322002 @default.
• W3158192500 hasConcept C134018914 @default.
• W3158192500 hasConcept C16671776 @default.
• W3158192500 hasConcept C170493617 @default.
• W3158192500 hasConcept C180754005 @default.
• W3158192500 hasConcept C188987157 @default.
• W3158192500 hasConcept C2779570518 @default.
• W3158192500 hasConcept C2781177144 @default.
• W3158192500 hasConcept C29906990 @default.
• W3158192500 hasConcept C501734568 @default.
• W3158192500 hasConcept C54355233 @default.
• W3158192500 hasConcept C71924100 @default.
• W3158192500 hasConcept C73787029 @default.
• W3158192500 hasConcept C84393581 @default.
• W3158192500 hasConcept C86803240 @default.
• W3158192500 hasConceptScore W3158192500C104317684 @default.
• W3158192500 hasConceptScore W3158192500C12125453 @default.

• next