Hypochondroplasia (HCH) is an autosomal dominant condition characterised by short stature, micromelia, and lumbar lordosis. In a series of 29 HCH probands (13 sporadic cases, 16 familial cases), we tested their DNA for the N540K recurrent mutation previously described in the proximal tyrosine kinase domain of the FGFR3 gene on chromosome 4p16.3, and we detected this mutation in 21/29 HCH patien...

Sphingomonas paucimobilis UT26 utilizes gamma-hexachlorocyclohexane (gamma-HCH) as a sole source of carbon and energy. In our previous study, we cloned and characterized genes that are involved in the conversion of gamma-HCH to maleylacetate (MA) via chlorohydroquinone (CHQ) in UT26. In this study, we identified and characterized an MA reductase gene, designated linF, that is essential for the ...

background: hypothyroidism (ht), a relatively common condition among general population is associated with lipid profile abnormalities. the present study was designed to determine the contributive role of ht in the development of hypercholesterolemia (hch). methods: one hundred thirty six consecutive patients with ht and 272 euthyroid controls entered the study. serum total cholesterol (ch) lev...

BACKGROUND Here we report specific activities of all seven naturally occurring LinA variants towards three different isomers, α, γ and δ, of a priority persistent pollutant, hexachlorocyclohexane (HCH). Sequence-structure-function differences contributing to the differences in their stereospecificity for α-, γ-, and δ-HCH and enantiospecificity for (+)- and (-)-α -HCH are also discussed. METH...

Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). A second, as yet unidentified, gene also causes HCH. In this study, we used sequencing analysis to determine the frequency of FGFR3 mutations for each phenotype in 324 cases from the International Skeletal Dysplas...

Persistent organochlorine compounds, including hexachlorocyclohexanes (HCHs), dichlorodiphenyltrichloroethanes (DDTs) and polychlorinated biphenyls (PCBs) were analyzed in surface water and sediments from Baiyangdian Lake, North China. Total concentrations of HCHs, DDTs and PCBs in surface water were in the range of 3.13-10.60, 4.05-20.59 and 19.46-131.62 ng/L, respectively, and total concentra...

Early rehabilitative therapy is important for patients with hypertensive cerebral hemorrhage to improve long-term function of the extremities. Vascular endothelial growth factor (VEGF) is closely associated with the pathogenesis of hypertension. To identify the markers contributing to the genetic susceptibility to hypertensive cerebellar hemorrhage (HCH) and rehabilitative treatment, we examine...

The effects of xenoestrogens have been extensively studied in rodents, generally under single, high-dose conditions. Using a continuous-release, low-dose system in ovariectomized mice, we correlated the estrogenic end points of uterine epithelial height (UEH) and vaginal epithelial thickness (VET) with concentrations of two organochlorine pesticide isomers in fat and blood. Silastic capsules co...

Hexachlorocyclohexane (HCH) is an organochlorine insecticide which has been banned in technologically advanced countries. However, it is still in use in tropical countries for mosquito control and thus new areas continue to be contaminated. Anaerobic degradation of HCH isomers have been well documented but until recently there have been only a few reports on aerobic microbial degradation of HCH...