Hypochondrogenesis

09/01/1994 - "The expression of type I, II and III collagens genes was examined in human normal and hypochondrogenesis cartilage canals employing electrophoretic analysis, immunohistochemistry and in situ hybridization techniques. "
09/01/1994 - "Localization of the expression of type I, II and III collagen genes in human normal and hypochondrogenesis cartilage canals."
11/05/1992 - "An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis."
12/01/1988 - "We have extended the study of a mild case of type II achondrogenesis-hypochondrogenesis to include biochemical analyses of cartilage, bone, and the collagens produced by dermal fibroblasts. "
01/01/2016 - "These mutations disrupt the collagen triple helix and are common in achondrogenesis type II and hypochondrogenesis. "

04/01/2000 - "Study of the clinical, radiographic, and morphological features of the seven cases supports evidence for a phenotypic continuum between achondrogenesis II-hypochondrogenesis and lethal SEDC and suggests a relationship between the amount of type I collagen in the cartilage and the severity of the phenotype."
01/01/1992 - "The only known type I collagen defects producing skeletal dysplasias--osteogenesis imperfecta, as well as the 'family' of established type II collagen disorders--achondrogenesis type II, hypochondrogenesis and spondyloepiphyseal dysplasia congenita are discussed. "

12/01/2001 - "In the absence of histological, chondro-osseus and molecular studies, detailed clinical and radiological studies, as well as the lethal evolution during the neonatal period, guided the diagnosis of hypochondrogenesis. "

11/20/1995 - "Type II collagen, which has been found to be abnormal in some patients with hypochondrogenesis, is considered to have a limited tissue distribution, and has not been detected as yet in human myocardium. "
11/05/1992 - "We report the detection and partial characterization of a defect in type II collagen in a perinatal lethal form of hypochondrogenesis. "
05/15/1992 - "Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis."
10/01/2021 - "The human inherited cartilage disease, Hypochondrogenesis, is caused by mutations in the collagen type II gene, COL2A1. "
11/05/1989 - "These findings confirm the proposal that new dominant mutations in the type II procollagen gene may account for some cases of Type II achondrogenesis-hypochondrogenesis. "

02/01/1995 - "We confirm previous observations in three cases of hypochondrogenesis that glycine substitutions in the alpha 1(II) chain can result in a phenotype at the most severe end of the type II collagenopathy spectrum."
02/01/1997 - "The single base substitution in Col2a1 resulted in a glycine to serine mutation within the helical domain and corresponded to one previously identified in a patient with the lethal human chondrodysplasia, hypochondrogenesis (Horton et al. [1992] Proc. "
05/01/1995 - "The proband with hypochondrogenesis had a heterozygous single-base mutation that substituted serine for glycine at position 805. "
05/01/1995 - "Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships."

02/01/1997 - "The single base substitution in Col2a1 resulted in a glycine to serine mutation within the helical domain and corresponded to one previously identified in a patient with the lethal human chondrodysplasia, hypochondrogenesis (Horton et al. [1992] Proc. "
05/01/1995 - "The proband with hypochondrogenesis had a heterozygous single-base mutation that substituted serine for glycine at position 805. "
05/01/1995 - "Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships."

02/17/2006 - "Taken together, these data for the first time demonstrated a role for RA-induced hypochondrogenesis through regulation of the TGF-beta3 pathway and suggested a role for TbetaRII /Smad in retinoid-induced cleft palate."

05/15/1992 - "A subtle mutation in the type II collagen gene COL2A1 was detected in a case of human hypochondrogenesis by using a chondrocyte culture system and PCR-cDNA scanning analysis. "

08/01/1995 - "An excess of retinoic acid (RA) in the mouse embryo in utero produces hypochondrogenesis and severe limb bone deformities. "

09/01/1994 - "In the case of hypochondrogenesis, type II collagen was less abundant than in normal cartilage, whereas the corresponding mRNA level was equivalent. "