Pages that link to "Q33909884"

The following pages link to Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. (Q33909884):

Displaying 50 items.

• Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations (Q22305374) (← links)
• Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta (Q24298392) (← links)
• Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta (Q24315740) (← links)
• Clinical assessment incorporating a personal genome (Q24612653) (← links)
• Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility (Q26828019) (← links)
• Treatment of osteogenesis imperfecta in adults (Q26853357) (← links)
• Heritable collagen disorders: the paradigm of the Ehlers-Danlos syndrome (Q27008370) (← links)
• A novel role of RNA helicase A in regulation of translation of type I collagen mRNAs (Q33292421) (← links)
• Segregation of type I collagen homo- and heterotrimers in fibrils (Q33730397) (← links)
• A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders (Q33768300) (← links)
• Carcinomas contain a matrix metalloproteinase-resistant isoform of type I collagen exerting selective support to invasion (Q33892014) (← links)
• A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement (Q33911125) (← links)
• Molecular mechanism of type I collagen homotrimer resistance to mammalian collagenases. (Q33991179) (← links)
• The genetic basis of aortic aneurysm (Q34083174) (← links)
• Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. (Q34088135) (← links)
• Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene (Q34138089) (← links)
• Nonsense-mediated decay in genetic disease: friend or foe? (Q34658988) (← links)
• Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model (Q35156234) (← links)
• Deficient degradation of homotrimeric type I collagen, α1(I)3 glomerulopathy in oim mice (Q35489554) (← links)
• The interface between catalytic and hemopexin domains in matrix metalloproteinase-1 conceals a collagen binding exosite. (Q35639806) (← links)
• Periostin regulates collagen fibrillogenesis and the biomechanical properties of connective tissues (Q36085689) (← links)
• Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? (Q36535540) (← links)
• Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay (Q36731022) (← links)
• Lessons on the pathogenesis of aneurysm from heritable conditions (Q36756427) (← links)
• Clinical genomic database (Q36932299) (← links)
• Allele dependent silencing of COL1A2 using small interfering RNAs (Q36973764) (← links)
• Allele dependent silencing of collagen type I using small interfering RNAs targeting 3'UTR Indels - a novel therapeutic approach in osteogenesis imperfecta (Q37119320) (← links)
• Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type (Q37789608) (← links)
• The Ehlers-Danlos syndrome, a disorder with many faces (Q37986887) (← links)
• Development and pathologies of the arterial wall (Q38144750) (← links)
• Genetics of ectopia lentis (Q38153726) (← links)
• The collagenopathies: review of clinical phenotypes and molecular correlations (Q38171408) (← links)
• Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure (Q38242108) (← links)
• Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. (Q38395351) (← links)
• The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections (Q38668091) (← links)
• Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review (Q38694212) (← links)
• The Ehlers-Danlos syndromes, rare types (Q38743626) (← links)
• Ehlers-Danlos syndrome, classical type (Q38758151) (← links)
• Pharmacological and biological therapeutic strategies for osteogenesis imperfecta. (Q38998578) (← links)
• RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events (Q40117572) (← links)
• Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs (Q40339136) (← links)
• Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications. (Q41513957) (← links)
• Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors (Q41875199) (← links)
• Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. (Q43169442) (← links)
• Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review (Q47859621) (← links)
• A novel algorithm for identification of activated cryptic 5' splice sites (Q51433900) (← links)
• The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects. (Q53359397) (← links)
• Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2. (Q53796736) (← links)
• Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations. (Q54482936) (← links)
• Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. (Q55059990) (← links)