Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

2018/03/29 by Patrick R. Blackburn, Xu Zhi, Zhi Xu +20 · 25 citations
Biochemistry, Genetics and Molecular Biology · #Connective tissue disorders research #Dermatological and Skeletal Disorders #Wnt/β-catenin signaling in development and cancer

paper · pdf · doi:10.1016/j.ajhg.2018.02.018

Cited by

• Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization. [europepmc]
• Expanding the Clinical and Mutational Spectrum of Recessive AEBP1 -Related Classical-Like Ehlers-Danlos Syndrome. [europepmc]
• AEBP1 expression increases with severity of fibrosis in NASH and is regulated by glucose, palmitate, and miR-372-3p. [europepmc]
• Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes. [europepmc]
• Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping review. [europepmc]
• Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. [europepmc]
• Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β. [europepmc]
• Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders. [europepmc]
• Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers-Danlos syndrome. [europepmc]
• A single cell transcriptional atlas of early synovial joint development. [europepmc]
• Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes. [europepmc]
• Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives. [europepmc]
• Aortic carboxypeptidase-like protein regulates vascular adventitial progenitor and fibroblast differentiation through myocardin related transcription factor A. [europepmc]
• Mass Spectrometry-Based Redox and Protein Profiling of Failing Human Hearts. [europepmc]
• The Role of Cell Adhesion and Cytoskeleton Dynamics in the Pathogenesis of the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. [europepmc]
• Mutant Presenilin 1 Dysregulates Exosomal Proteome Cargo Produced by Human-Induced Pluripotent Stem Cell Neurons. [europepmc]
• Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential. [europepmc]
• Establishing an Ehlers-Danlos Syndrome Clinic: Lessons Learned. [europepmc]
• Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review. [europepmc]
• High overlap in patients diagnosed with hypermobile Ehlers-Danlos syndrome or hypermobile spectrum disorders with fibromyalgia and 40 self-reported symptoms and comorbidities. [europepmc]
• Case report: further delineation of AEBP1 -related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature. [europepmc]
• Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. [europepmc]
• ACLP Activates Cancer-Associated Fibroblasts and Inhibits CD8+ T-Cell Infiltration in Oral Squamous Cell Carcinoma. [europepmc]
• Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. [europepmc]
• Phenotypic Clusters and Multimorbidity in Hypermobile Ehlers-Danlos Syndrome. [europepmc]