Chondrodysplasias due to proteoglycan defects
نویسندگان
چکیده
منابع مشابه
MINI REVIEW Chondrodysplasias due to proteoglycan defects
The proteoglycans, especially the large chondroitin sulfate proteoglycan aggrecan, have long been viewed as important components of the extracellular matrix of cartilage. The drastic change in expression during differentiation from mesenchyme to cartilage, the loss of tissue integrity associated with proteoglycan degradation in several disease processes and, most important, the demonstration of...
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Defects in thyroid hormone production, transport and utilization are classified. Particular attention is given to inherited intrathyroidal defects in hormone synthesis which impair thyroid function and lead to goitre formation and hypothyroidism. Anomalies in biosynthesis may also result from disease or drugs. Reference is made to the derangement of iodine metabolism that results from iodine de...
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Congenital hypothyroidism (CH) occurs in 1 in 3000– 4000 newborns. Early diagnosis and therapy are absolutely critical because, when untreated, hypothyroid subjects develop severe and irreversible mental retardation. Thyroid dysgenesis (agenesis, ectopic location or hypoplasia) is the most common cause of CH. Tissue-specific transcription factors play a major role in organogenesis and cell diff...
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Human chondrodysplasias are a group of conditions that affect the cartilage. It involves the growth, organization and development of the skeleton. The majority of bones in the skeleton are generated through two different mechanisms: the intramembranous and the endochondral ossifications. In the intramembranous process, mesenchymal cells originating from the neural crest and the cephalic mesoder...
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Ciliary chondrodysplasias represent a heterogenous group of rare, nearly exclusively autosomal recessively inherited developmental conditions. While the skeletal phenotype, mainly affecting limbs, ribs and sometimes the craniofacial skeleton, is predominant, extraskeletal disease affecting the kidneys, liver, heart, eyes and other organs and tissues is observed inconsistently. Significant letha...
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ژورنال
عنوان ژورنال: Glycobiology
سال: 2002
ISSN: 0959-6658,1460-2423
DOI: 10.1093/glycob/12.4.57r