{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Vahidnezhad H"],"funding":["NIAID NIH HHS","National Institutes of Health","NIAMS NIH HHS"],"pagination":["1706-1731"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9771971"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["43(12)"],"pubmed_abstract":["Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N-terminal domain, the Rod domain, and the C-terminal domain. Molecular defects of PLEC correlating with the functional aspects lead to a group of rare heritable disorders, plectinopathies. These multisystem disorders include an autosomal dominant form of epidermolysis bullosa simplex (EBS-Ogna), limb-girdle muscular dystrophy (LGMD), aplasia cutis congenita (ACC), and an autosomal recessive form of EBS, which may associate with muscular dystrophy (EBS-MD), pyloric atresia (EBS-PA), and/or congenital myasthenic syndrome (EBS-MyS). In this study, genotyping of over 600 Iranian patients with epidermolysis bullo"],"journal":["Human mutation"],"pubmed_title":["Mutation update: The spectra of PLEC sequence variants and related plectinopathies."],"pmcid":["PMC9771971"],"funding_grant_id":["R01 AR028450","R01 AI143810"],"pubmed_authors":["Mozafari N","Mansouri P","Vahidnezhad H","Uitto J","Sotoudeh S","Zeinali S","Tavasoli AR","Harvey N","Youssefian L","Saeidian AH","Mahmoudi H","Zargari O","Varghaei A"],"additional_accession":[]},"is_claimable":false,"name":"Mutation update: The spectra of PLEC sequence variants and related plectinopathies.","description":"Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N-terminal domain, the Rod domain, and the C-terminal domain. Molecular defects of PLEC correlating with the functional aspects lead to a group of rare heritable disorders, plectinopathies. These multisystem disorders include an autosomal dominant form of epidermolysis bullosa simplex (EBS-Ogna), limb-girdle muscular dystrophy (LGMD), aplasia cutis congenita (ACC), and an autosomal recessive form of EBS, which may associate with muscular dystrophy (EBS-MD), pyloric atresia (EBS-PA), and/or congenital myasthenic syndrome (EBS-MyS). In this study, genotyping of over 600 Iranian patients with epidermolysis bullo","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2025-04-04T09:50:17.144Z","creation":"2025-02-19T01:17:31.769Z"},"accession":"S-EPMC9771971","cross_references":{"pubmed":["35815343"],"doi":["10.1002/humu.24434"]}}