Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diverging results have been published concerning collagen metabolism in uterovaginal prolapse (UP). We have investigated collagen turnover in urogenital tissue in urologically healthy women with (UP patients) and without UP or any history of UP (controls). Markers of collagen turnover, carboxy-terminal propeptide of type I procollagen (PICP), amino-terminal propeptide of procollagen III (PIIINP) and carboxy-terminal telopeptide of type I collagen (ICTP) were assayed in urogenital tissue homogenates and serum. Tissue and serum concentrations of collagen turnover markers were related to UP and to menopausal/estrogen status. UP patients were significantly older than the controls. UP patients had significantly higher tissue PICP and PIIINP and significantly lower tissue ICTP levels than the controls, but the difference in ICTP disappeared after matching for menopausal/estrogen status and age. There were no associations between tissue collagen turnover markers on the one hand and menopausal/estrogen status or age on the other. The higher tissue concentrations of PICP and especially PIIINP in tissue from women with UP compared to controls, suggest an increased collagen breakdown in UP. This pattern differs from that in stress urinary incontinent women without UP, where tissue levels of collagen turnover markers are low, indicating reduced collagen breakdown.
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PMID:Markers of collagen synthesis and degradation in urogenital tissue and serum from women with and without uterovaginal prolapse. 1823 Jun 25

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal recessive (AR) forms are being identified, which are caused by defects in genes involved in collagen metabolism, bone mineralization, or osteoblast differentiation. Bi-allelic mutations in WNT1 have been associated with a rare form of AR OI, characterized by severe osteoporosis, vertebral compression, scoliosis, fractures, short stature, and variable neurological problems. Heterozygous WNT1 mutations have been linked to autosomal dominant early-onset osteoporosis. In this study, we describe the clinical and molecular findings in 10 new patients with AR WNT1-related OI. Thorough revision of the clinical symptoms of these 10 novel patients and previously published AR WNT1 OI cases highlight ptosis as a unique hallmark in the diagnosis of this OI subtype.
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PMID:Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. 3089 82