Achondrogenesis

09/15/1997 - "Parallel in vitro studies in a patient with achondrogenesis 1B indicated that the severity of the clinical phenotype seems to be correlated to the residual activity of the sulfate transporter. "
08/01/1999 - "We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. "
08/01/2013 - "Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB. "
03/15/2005 - "Mutations in the diastrophic dysplasia sulfate transporter (DTDST or SLC26A2) cause a family of recessively inherited chondrodysplasias including, in order of decreasing severity, achondrogenesis 1B, atelosteogenesis 2, diastrophic dysplasia (DTD) and recessive multiple epiphyseal dysplasia. "
08/30/2004 - "Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2). "

02/01/1992 - "Collagen extracted either from cartilage or synthesized in vitro was analyzed to identify possible molecular defects in the cartilaginous matrix of a male fetus suffering from a mild form of type II achondrogenesis (Langer-Saldino). "
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. "
12/01/2001 - "This entity, together with achondrogenesis II (and other dysplasias), forms part of the same spectrum of collagen type II abnormalities produced by a defect in the gene (COL2A1) that codifies collagen II, located in chromosome 12 I(12q13.1-13.2). "
07/01/2007 - "Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II. Although the extracellular cartilage matrix was severely altered, all of the investigated matrix molecules (collagens, aggrecan, matrilins, cartilage oligomeric protein [COMP]) showed a normal distribution pattern. "

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."

02/15/1994 - "The significance of the type II collagen reduction in the patient's cartilage is unclear but it is unlikely to be the primary defect in achondrogenesis type I."
04/01/1989 - "The data obtained suggest that the primary defect in type II achondrogenesis involves ChS or type II collagen synthesis."
01/01/1988 - "Type II collagen deficiency in achondrogenesis (Langer-Saldino)."
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. "
12/01/1988 - "Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen."

12/01/1994 - "Impaired synthesis of sulfated proteoglycans was observed also in fibroblast cultures of the achondrogenesis IB patient. "
02/07/2019 - "However, a similar defect in chondrocyte maturation is observed in both disorders, which produces a cellular achondrogenesis phenotype of different severity, ensuing from aberrant glycan processing and impaired extracellular matrix proteoglycan secretion by the Golgi apparatus."
08/02/1996 - "To ascertain the consequences of the sulfate transport defect on proteoglycan synthesis, we studied the structure and sulfation of proteoglycans in cartilage tissue and in fibroblast and chondrocyte cultures from a fetus with achondrogenesis 1B. "
03/10/1997 - "Furthermore, in both achondrogenesis and colon cancer, the reduced ability to sulphate proteoglycans is due to genetic defects in cellular sulfate transporters. "
03/01/1989 - "Impairments in the rate of chondroitin sulfate sulfatation were detected in achondrogenesis of the II type and in diastrophic dysplasia; an extraction ability and amount of proteoglycan fractions, relative content of glycosaminoglycans and binding proteins were altered in some other forms of osteochondrodysplasias. "

10/01/2004 - "When comparing the sulfate transport capacity of each DTDST mutation with the chondrodysplasia in which it has been identified, we find that individuals with severe achondrogenesis 1B phenotype have null mutations on both DTDST alleles. "
08/02/1996 - "To ascertain the consequences of the sulfate transport defect on proteoglycan synthesis, we studied the structure and sulfation of proteoglycans in cartilage tissue and in fibroblast and chondrocyte cultures from a fetus with achondrogenesis 1B. "

10/01/2022 - "Genotype-protein phenotype annotations highlighted that the clinically severe achondrogenesis 1B causative c.796dupA(p.Thr266Asnfs*12) and c.1724delA(p.Lys575Serfs*10)variants impact SLC26A2 protein structure by deletion of the protein core and transmembrane STAS domains, respectively. "
07/01/2007 - "Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II. Although the extracellular cartilage matrix was severely altered, all of the investigated matrix molecules (collagens, aggrecan, matrilins, cartilage oligomeric protein [COMP]) showed a normal distribution pattern. "

08/01/1980 - "Normal lipid composition of fibroblasts from a case of type II achondrogenesis."
03/01/1973 - "Family with probable achondrogenesis and lipid inclusions in fibroblasts."

07/01/2007 - "Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II. Although the extracellular cartilage matrix was severely altered, all of the investigated matrix molecules (collagens, aggrecan, matrilins, cartilage oligomeric protein [COMP]) showed a normal distribution pattern. "

07/01/2007 - "Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II. Although the extracellular cartilage matrix was severely altered, all of the investigated matrix molecules (collagens, aggrecan, matrilins, cartilage oligomeric protein [COMP]) showed a normal distribution pattern. "