Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1
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Genome-wide association study of Tourette's syndromeThe new collagen gene COL27A1 contains SOX9-responsive enhancer elementsFrom Genetics to Epigenetics: New Perspectives in Tourette Syndrome ResearchCollagens.A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen familyCollagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagensThe transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturationCREB-AP1 protein complexes regulate transcription of the collagen XXIV gene (Col24a1) in osteoblastsIsoform-specific heparan sulfate binding within the amino-terminal noncollagenous domain of collagen alpha1(XI)Collagen XXVII organises the pericellular matrix in the growth plateThe fibrillar collagen familyEndoplasmic Reticulum Stress and Unfolded Protein Response in Cartilage Pathophysiology; Contributing Factors to Apoptosis and Osteoarthritis.Invertebrate data predict an early emergence of vertebrate fibrillar collagen clades and an anti-incest model.Distinct maturations of N-propeptide domains in fibrillar procollagen molecules involved in the formation of heterotypic fibrils in adult sea urchin collagenous tissues.Kudoa trifolia sp. n. - molecular phylogeny suggests a new spore morphology and unusual tissue location for a well-known genus.Type XXVII collagen at the transition of cartilage to bone during skeletogenesis.Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growthThe expression and function of microRNAs in chondrogenesis and osteoarthritis.Demosponge and sea anemone fibrillar collagen diversity reveals the early emergence of A/C clades and the maintenance of the modular structure of type V/XI collagens from sponge to human.Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome.Collagen Type IV and Laminin Expressions during Cartilage Repair and in Late Clinically Failed Repair Tissues from Human Subjects.Molecular recognition in the assembly of collagens: terminal noncollagenous domains are key recognition modules in the formation of triple helical protomers.Tendon and ligament injuries: the genetic component.Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.The minor collagens in articular cartilage.Collagen XXIV (Col24a1) gene expression is a specific marker of osteoblast differentiation and bone formation.Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone.Genome-wide analysis reveals differential selection involved with copy number variation in diverse Chinese Cattle.Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations.Network Analysis Reveals Putative Genes Affecting Meat Quality in Angus Cattle.Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
P2860
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P2860
Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1
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2003 nî lūn-bûn
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2003 թուականի Մարտին հրատարակուած գիտական յօդուած
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2003 թվականի մարտին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年论文
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name
Identification, characterizati ...... brillar collagen gene, COL27A1
@ast
Identification, characterizati ...... brillar collagen gene, COL27A1
@en
Identification, characterizati ...... brillar collagen gene, COL27A1
@nl
type
label
Identification, characterizati ...... brillar collagen gene, COL27A1
@ast
Identification, characterizati ...... brillar collagen gene, COL27A1
@en
Identification, characterizati ...... brillar collagen gene, COL27A1
@nl
prefLabel
Identification, characterizati ...... brillar collagen gene, COL27A1
@ast
Identification, characterizati ...... brillar collagen gene, COL27A1
@en
Identification, characterizati ...... brillar collagen gene, COL27A1
@nl
P3181
P1433
P1476
Identification, characterizati ...... brillar collagen gene, COL27A1
@en
P2093
James M Pace
Marcella Corrado
P3181
P356
10.1016/S0945-053X(03)00007-6
P407
P577
2003-03-01T00:00:00Z