Connective tissue disorders research

Theobroma cacao improves bone growth by modulating defective ciliogenesis in a mouse model of achondroplasia

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

Ablation of the FACIT collagen XII disturbs musculoskeletal ECM organization and causes patella dislocation and myopathy

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.

Identification of Novel Genetic Susceptibility Loci for Thoracic and Abdominal Aortic Aneurysms Via Genome-Wide Association Study Using the UK Biobank Cohort

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.

Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

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.

Tendon and Motor Phenotypes in the Crtap-/- Mouse Model of Recessive Osteogenesis Imperfecta

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.

Identification of Fibronectin 1 as a candidate genetic modifier in a Col4a mutant mouse model of Gould syndrome

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.

Epigenetic modulation in the pathogenesis and treatment of inherited aortic aneurysm conditions

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 phosphatase inhibitor LB-100 acts synergistically with the NPR2 agonist BMN-111 to improve bone growth

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.

Is HSPG2 a modifier gene for Marfan syndrome?

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

SLC2A knockout mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

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.

A variant in SMOC2, inhibiting BMP signaling by competitively binding to BMPR1B, causes multiple epiphyseal dysplasia

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

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.

Immune, Autonomic, and Endocrine Dysregulation in Autism and Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders Versus Unaffected Controls

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.

Targetable cellular signaling events drive arterial rupture in knock-in mouse models of vascular Ehlers-Danlos Syndrome

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

Identification of two independent COL5A1 variants in dogs with Ehlers Danlos syndrome

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.

Assessing Disease Experience across the Life Span for Individuals with Osteogenesis Imperfecta: Challenges and Opportunities for Patient-Reported Outcomes (PROs) Measurement

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.

Dental and facial characteristics of osteogenesis imperfecta type V

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.

Clinical implications of identifying pathogenic variants in aortic dissection patients with whole exome sequencing

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.

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

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.

Limb- and tendon-specific Adamtsl2 deletion identifies a soft tissue mechanism modulating bone length

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.

A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

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.