ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.
PLoS ONE, 2010 BackgroundFibrillins 1 (FBN1) and 2 (FBN2) are components of microfibrils, microfilaments that are present in many connective tissues, either alone or in association with elastin.
Gaynor Miller +13 more
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Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice.
PLoS Genetics, 2015 Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils. Mutations in the gene for fibrillin-1 cause the Marfan syndrome, while mutations in the gene for fibrillin-2 cause ...
Gerhard Sengle +8 more
doaj +1 more source
Онтологія вроджених вад скелету кисті [PDF]
, 2014 На підставі проведеного аналізу джерел літератури зроблена спроба узагальнити існуючі відомості про вроджені вади скелету кисті та запропоновано їх класифікацію і тлумачення згідно ...
Бірюк, Ігор Григорович +3 more
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Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures [PDF]
, 2015 Arthrogryposis multiplex congenita (AMC) is a syndrome characterized by nonprogressive multiple congenital joint contractures. The etiology of disease is multifactorial; it is most commonly suspected from absent fetal movements and genetic defects.
Cagkan Caglar +2 more
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Inheritance involved in the pathogenesis of idiopathic scoliosis [PDF]
, 2008 Idiopathic scoliosis is a common cause of spinal deformity in children and adolescents. Although the incidence of the scoliosis is up to 2 %-3 % of the world’s population, the pathogenesis is still obscure.
Fan, Xing, Li, Ming, Shangguan, Lei
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Genomic Analysis of Human Spinal Deformity and Characterization of a Zebrafish Disease Model [PDF]
, 2014 Scoliosis is characterized by a lateral curvature of the spine that requires long-term bracing and invasive spinal surgery in cases with progressive deformity.
Buchan, Jillian Gwen
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Mutation Analysis of Fibrillin-2 (FBN2) and Microfibril Associated Protein-3 (MFAP-3): Two Genes Associated with Congenital Contractural Arachnodactyly (CCA), also known as Beal\u27s Syndrome [PDF]
, 1996 Congenital Contractural Arachnodactyly (CCA), also known as Beal\u27s syndrome, is an autosomal dominant disorder characterized by multiple congenital joint contractures, arachnodactyly, dolichostenomelia, and scoliosis with only rare ocular or ...
Babcock, Darcie
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Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants [PDF]
, 2016 Rationale: Patients with idiopathic bronchiectasis are predominantly female and have an asthenic body morphotype and frequent nontuberculous mycobacterial respiratory infections.
Birchard, Katherine R. +5 more
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Aetiological factors for developmental defects of enamel [PDF]
, 2014 Developmental defects of enamel remain as a permanent record of a disturbance during amelogenesis. They may present in different forms, some of which may be perceived by an individual as being disfiguring and so requiring treatment to improve the ...
Wong, HM
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Characterisation of genetic regulatory effects for osteoporosis risk variants in human osteoclasts. [PDF]
, 2020 BACKGROUND: Osteoporosis is a complex disease with a strong genetic contribution. A recently published genome-wide association study (GWAS) for estimated bone mineral density (eBMD) identified 1103 independent genome-wide significant association signals.
Brown, Suzanne J +11 more
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