{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["S UK"],"funding":["Qatar University"],"pagination":["E5543"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7730838"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(23)"],"pubmed_abstract":["Filamins (FLN) are a family of actin-binding proteins involved in regulating the cytoskeleton and signaling phenomenon by developing a network with F-actin and FLN-binding partners. The FLN family comprises three conserved isoforms in mammals: FLNA, FLNB, and FLNC. FLNB is a multidomain monomer protein with domains containing an actin-binding N-terminal domain (ABD 1-242), encompassing two calponin-homology domains (assigned CH1 and CH2). Primary variants in FLNB mostly occur in the domain (CH2) and surrounding the hinge-1 region. The four autosomal dominant disorders that are associated with <i>FLNB</i> variants are Larsen syndrome, atelosteogenesis type I (AOI), atelosteogenesis type III (AOIII), and boomerang dysplasia (BD). Despite the intense clustering of <i>FLNB</i> variants contrib"],"journal":["Molecules (Basel, Switzerland)"],"pubmed_title":["Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach."],"pmcid":["PMC7730838"],"funding_grant_id":["QUST-2-CHS-2020- 12"],"pubmed_authors":["Younes S","Ahmad MN","C GPD","S UK","Zayed H","Al-Subaie AM","Sankar S","D TK","Kamaraj B","Okashah SS"],"additional_accession":[]},"is_claimable":false,"name":"Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.","description":"Filamins (FLN) are a family of actin-binding proteins involved in regulating the cytoskeleton and signaling phenomenon by developing a network with F-actin and FLN-binding partners. The FLN family comprises three conserved isoforms in mammals: FLNA, FLNB, and FLNC. FLNB is a multidomain monomer protein with domains containing an actin-binding N-terminal domain (ABD 1-242), encompassing two calponin-homology domains (assigned CH1 and CH2). Primary variants in FLNB mostly occur in the domain (CH2) and surrounding the hinge-1 region. The four autosomal dominant disorders that are associated with <i>FLNB</i> variants are Larsen syndrome, atelosteogenesis type I (AOI), atelosteogenesis type III (AOIII), and boomerang dysplasia (BD). Despite the intense clustering of <i>FLNB</i> variants contrib","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Nov","modification":"2026-04-07T22:48:10.971Z","creation":"2021-02-20T10:35:56Z"},"accession":"S-EPMC7730838","cross_references":{"pubmed":["33255942"],"doi":["10.3390/molecules25235543"]}}