FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3210996906> ?p ?o ?g. }

• W3210996906 abstract "Purpose: Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their essential function in human brain development is unknown.Methods: We used exome sequencing to uncover ADD1 variants in individuals affected by intellectual disability (ID) and structural brain malformations. We analyzed ADD1 splice isoforms in neocortex development with RNA-Seq, super resolution imaging and immunoblotting. We modeled ADD1 variants by CRISPR/Cas9 editing, introducing variant proteins into human cells, and investigating neural development in Add1 knockout mice.Results: We uncovered loss-of-function (LoF) ADD1 variants in four affected individuals affected by ID and structural brain defects. De novo copy number variations covering the ADD1 locus were identified in three other affected individuals. ADD1 splice isoforms are highly and differentially expressed between neural progenitors and postmitotic neurons in the developing human and mouse neocortex. Human variants impair ADD1 protein level and/or dimerization with ADD2. Add1 knockout mice recapitulate the corpus callosum dysgenesis and ventriculomegaly found in humans with ADD1 LoF variants.Conclusion: Our human and mouse genetics results indicate that ADD1 loss-of-function is associated with corpus callosum malformation, ventriculomegaly, and intellectual disability." @default.
• W3210996906 created "2021-11-08" @default.
• W3210996906 creator A5002562264 @default.
• W3210996906 creator A5007672774 @default.
• W3210996906 creator A5009410352 @default.
• W3210996906 creator A5009957197 @default.
• W3210996906 creator A5011865508 @default.
• W3210996906 creator A5014829476 @default.
• W3210996906 creator A5026015985 @default.
• W3210996906 creator A5027821192 @default.
• W3210996906 creator A5034241498 @default.
• W3210996906 creator A5034492694 @default.
• W3210996906 creator A5039643118 @default.
• W3210996906 creator A5043221392 @default.
• W3210996906 creator A5056036725 @default.
• W3210996906 creator A5058936141 @default.
• W3210996906 creator A5063016502 @default.
• W3210996906 creator A5063159905 @default.
• W3210996906 creator A5071100361 @default.
• W3210996906 creator A5072091201 @default.
• W3210996906 creator A5085458311 @default.
• W3210996906 creator A5089048212 @default.
• W3210996906 creator A5091497415 @default.
• W3210996906 date "2021-01-01" @default.
• W3210996906 modified "2023-10-01" @default.
• W3210996906 title "Variants in ADD1 Cause Intellectual Disability, Corpus Callosum Dysgenesis, and Ventriculomegaly in Humans" @default.
• W3210996906 cites W1607929058 @default.
• W3210996906 cites W1908154690 @default.
• W3210996906 cites W1971371925 @default.
• W3210996906 cites W2001669314 @default.
• W3210996906 cites W2003164050 @default.
• W3210996906 cites W2008097533 @default.
• W3210996906 cites W2011499712 @default.
• W3210996906 cites W2019860224 @default.
• W3210996906 cites W2021341670 @default.
• W3210996906 cites W2038280158 @default.
• W3210996906 cites W2050642734 @default.
• W3210996906 cites W2053718310 @default.
• W3210996906 cites W2061463538 @default.
• W3210996906 cites W2063692850 @default.
• W3210996906 cites W2064021058 @default.
• W3210996906 cites W2065490663 @default.
• W3210996906 cites W2085198610 @default.
• W3210996906 cites W2097492158 @default.
• W3210996906 cites W2111889346 @default.
• W3210996906 cites W2131255875 @default.
• W3210996906 cites W2134152721 @default.
• W3210996906 cites W2135923382 @default.
• W3210996906 cites W2136814487 @default.
• W3210996906 cites W2137538651 @default.
• W3210996906 cites W2141934077 @default.
• W3210996906 cites W2146393625 @default.
• W3210996906 cites W2195294260 @default.
• W3210996906 cites W2256016639 @default.
• W3210996906 cites W2314116290 @default.
• W3210996906 cites W2337654115 @default.
• W3210996906 cites W2511110663 @default.
• W3210996906 cites W2512648537 @default.
• W3210996906 cites W2560760305 @default.
• W3210996906 cites W2787032483 @default.
• W3210996906 cites W2949873165 @default.
• W3210996906 doi "https://doi.org/10.2139/ssrn.3931622" @default.
• W3210996906 hasPublicationYear "2021" @default.
• W3210996906 type Work @default.
• W3210996906 sameAs 3210996906 @default.
• W3210996906 citedByCount "0" @default.
• W3210996906 crossrefType "journal-article" @default.
• W3210996906 hasAuthorship W3210996906A5002562264 @default.
• W3210996906 hasAuthorship W3210996906A5007672774 @default.
• W3210996906 hasAuthorship W3210996906A5009410352 @default.
• W3210996906 hasAuthorship W3210996906A5009957197 @default.
• W3210996906 hasAuthorship W3210996906A5011865508 @default.
• W3210996906 hasAuthorship W3210996906A5014829476 @default.
• W3210996906 hasAuthorship W3210996906A5026015985 @default.
• W3210996906 hasAuthorship W3210996906A5027821192 @default.
• W3210996906 hasAuthorship W3210996906A5034241498 @default.
• W3210996906 hasAuthorship W3210996906A5034492694 @default.
• W3210996906 hasAuthorship W3210996906A5039643118 @default.
• W3210996906 hasAuthorship W3210996906A5043221392 @default.
• W3210996906 hasAuthorship W3210996906A5056036725 @default.
• W3210996906 hasAuthorship W3210996906A5058936141 @default.
• W3210996906 hasAuthorship W3210996906A5063016502 @default.
• W3210996906 hasAuthorship W3210996906A5063159905 @default.
• W3210996906 hasAuthorship W3210996906A5071100361 @default.
• W3210996906 hasAuthorship W3210996906A5072091201 @default.
• W3210996906 hasAuthorship W3210996906A5085458311 @default.
• W3210996906 hasAuthorship W3210996906A5089048212 @default.
• W3210996906 hasAuthorship W3210996906A5091497415 @default.
• W3210996906 hasConcept C105702510 @default.
• W3210996906 hasConcept C142724271 @default.
• W3210996906 hasConcept C172680121 @default.
• W3210996906 hasConcept C2776212519 @default.
• W3210996906 hasConcept C2778183499 @default.
• W3210996906 hasConcept C2779234561 @default.
• W3210996906 hasConcept C2779812711 @default.
• W3210996906 hasConcept C54355233 @default.
• W3210996906 hasConcept C551499885 @default.
• W3210996906 hasConcept C71924100 @default.
• W3210996906 hasConcept C86803240 @default.
• W3210996906 hasConceptScore W3210996906C105702510 @default.

• next