Connective tissue disorders research

The paper constructs PPI networks for SMDS and GPX4 to identify novel interactors and potential drug targets related to the disorder.

The paper shows that (-)-epicatechin from Theobroma cacao improves bone growth in a mouse model of achondroplasia by rescuing ciliogenesis defects.

This study shows that collagen XII deficiency in mice causes patella dislocation and myopathy, with altered gene expression in tenocytes and human patients showing similar patella instability.

This paper identifies novel genetic loci for thoracic and abdominal aortic aneurysms using GWAS in the UK Biobank and finds distinct genetic architectures and shared pathophysiology with Marfan syndrome.

This study assesses dysautonomia prevalence and its association with exercise intolerance and cardiac atrophy in patients with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

This study examines tendon and motor phenotypes in Crtap-/- mice, finding thinner tendons, altered collagen structure, and motor impairments linked to tendon/ligament dysfunction in OI.

The paper identifies Fibronectin 1 as a genetic modifier in a Col4a1 mutant mouse model of Gould syndrome, showing it suppresses ocular and muscular phenotypes through increased expression and integrin signaling.

This study shows that epigenetic modulation, specifically targeting H3K27 acetylation, can reduce aortic root aneurysm in SGS and MFS mouse models by inhibiting TGFβ target gene expression.

The paper shows that combining the phosphatase inhibitor LB-100 with the NPR2 agonist BMN-111 enhances bone growth in a mouse model of achondroplasia.

The paper investigates HSPG2 as a modifier gene for Marfan syndrome, finding lower HSPG2 expression in mice with severe phenotypes.

This study generates a novel mouse model of arterial tortuosity syndrome by knocking out Slc2a10 and Gulo, revealing mitochondrial respiration defects and compromised extracellular matrix formation.

The paper investigates how different FBN1 truncating mutations cause distinct clinical phenotypes in Marfan syndrome and Marfanoid-progeroid-lipodystrophy syndrome through molecular and genetic analysis.

The paper investigates symptom overlap between autism and Ehlers-Danlos syndrome/hypermobility spectrum disorders, finding shared immune, autonomic, and endocrine dysregulation and suggesting potential hereditary connective tissue disorder links.

The paper identifies signaling pathway abnormalities in vEDS mouse models that contribute to arterial rupture.

The paper identifies two COL5A1 mutations in dogs with EDS-like symptoms, confirming a genetic basis for the condition and demonstrating the utility of DNA sequencing in diagnosis.

The paper evaluates the construct validity of PROMIS instruments in osteogenesis imperfecta (OI) and explores using a registry to recruit participants for health status surveys.

This study describes the dental and craniofacial characteristics of OI type V, finding missing permanent teeth but not dentinogenesis imperfecta, and a distinct craniofacial phenotype compared to other OI types.

This study identifies pathogenic variants in 6 genes in 10.8% of aortic dissection patients using whole exome sequencing, highlighting clinical implications for genetic testing and family screening.

This study shows zebrafish mutants with type I collagen mutations closely mimic human collagenopathies, revealing phenotypic variability linked to disease severity and potential for identifying genetic modifiers.

This study shows that ADAMTSL2 deletion in limb soft tissues, particularly tendons, causes disproportionate limb shortening by affecting tendon growth and fibrillin microfibril formation, suggesting a new mechanism for geleophysic dysplasia.

The paper identifies a mutation in LMOD1 associated with thoracic aortic aneurysms and dissections in a British family and validates its pathogenicity using zebrafish models.