Autosomal dominant and recessive osteochondrodysplasias associated with the COL 11A2 locus
Article Abstract:
Experimental studies indicate that a mutation in the splice donor site that yields an 'in-frame' exon skipping in the COL11A2 gene, is responsible for the autosomal dominant stickler syndrome that causes osteoarthritis, spondyloepiphyseal dysplasia and sensori-neural hearing loss. COL11A2 gene codes for the alpha-2(XI) chain of minor fibrillar collagen XI. Substitution of glycine by arginine in the alpha-2(XI) collagen causes an autosomal recessive disorder, the characteristics of which correspond to the COL11A2 locus, indicating that collagen XI gene mutations are responsible for several developmental defects.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1995
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Morphogenesis
Article Abstract:
Researches on developmental embryology have focused mainly on the genetic pathways underlying cell division, differentiation and cell fate determination. The major challenge to researchers is to highlight the role of conserved morphogenesis in creating functional organs. The morphogenetic code falls under two categories, namely, the basic subroutines defining mechanical operations and the manner by which the subroutines are coordinated with cell fate determination and cell proliferation.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1999
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Bone morphogenesis and modeling: soluble signals sculpt osteosomes in the solid state
Article Abstract:
Bone formation by osteoblasts and bone modeling and remodeling by osteoclasts are parts of a closely integrated homeostatic system. The protein osteoprotegerin (OPG) protects bone from resorption. OPG may have a clinical utility in osteoporosis, a systemic skeletal disease characterized by low bone mass, loss of trabeculae architecture and deterioration of bone trabeculae microarchitecture, especially in postmenopausal women.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1997
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