Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).
about
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesAutosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathiaComplete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variantsStructural organization of the human and mouse laminin beta2 chain genes, and alternative splicing at the 5' end of the human transcriptA missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisisNuclear protein TIA-1 regulates COL2A1 alternative splicing and interacts with precursor mRNA and genomic DNA.Alternative splicing of type II procollagen: IIB or not IIB?Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosisRegulation of protein diversity by alternative pre-mRNA splicing with specific focus on chondrogenesis.Expression of two novel alternatively spliced COL2A1 isoforms during chondrocyte differentiationEgr-1 mediates transcriptional repression of COL2A1 promoter activity by interleukin-1beta.Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-aAlternative splicing of type II procollagen exon 2 is regulated by the combination of a weak 5' splice site and an adjacent intronic stem-loop cis element.Developmental expression of a type II collagen/beta-galactosidase fusion gene in transgenic mice.Up-regulation of type II collagen gene by 17β-estradiol in articular chondrocytes involves Sp1/3, Sox-9, and estrogen receptor α.
P2860
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P2860
Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Conservation of the sizes of 5 ...... type II procollagen (COL2A1).
@en
type
label
Conservation of the sizes of 5 ...... type II procollagen (COL2A1).
@en
prefLabel
Conservation of the sizes of 5 ...... type II procollagen (COL2A1).
@en
P2093
P2860
P356
P1433
P1476
Conservation of the sizes of 5 ...... type II procollagen (COL2A1).
@en
P2093
B de Crombrugghe
D J Prockop
K I Kivirikko
L Ala-Kokko
M Metsäranta
P2860
P304
P356
10.1042/BJ3080923
P407
P478
308 ( Pt 3)
P577
1995-06-01T00:00:00Z