58 research outputs found
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 mutations have been implicated in a similar phenotype. Studying FBLN4, FBLN5, and LTBP4 in 12 families with ARCL type I, we found bi-allelic FBLN5 mutations in two probands, whereas nine probands harbored biallelic mutations in LTBP4. FBLN5 and LTBP4 mutations cause a very similar phenotype associated with severe pulmonary emphysema, in the absence of vascular tortuosity or aneurysms. Gastrointestinal and genitourinary tract involvement seems to be more severe in patients with LTBP4 mutations. Functional studies showed that most premature termination mutations in LTBP4 result in severely reduced mRNA and protein levels. This correlated with increased transforming growth factor-beta (TGFβ) activity. However, one mutation, c.4127dupC, escaped nonsense-mediated decay. The corresponding mutant protein (p.Arg1377Alafs(*) 27) showed reduced colocalization with fibronectin, leading to an abnormal morphology of microfibrils in fibroblast cultures, while retaining normal TGFβ activity. We conclude that LTBP4 mutations cause disease through both loss of function and gain of function mechanisms
Light Vector Mesons in the Nuclear Medium
The light vector mesons (, , and ) were produced in
deuterium, carbon, titanium, and iron targets in a search for possible
in-medium modifications to the properties of the meson at normal nuclear
densities and zero temperature. The vector mesons were detected with the CEBAF
Large Acceptance Spectrometer (CLAS) via their decays to . The rare
leptonic decay was chosen to reduce final-state interactions. A combinatorial
background was subtracted from the invariant mass spectra using a
well-established event-mixing technique. The meson mass spectrum was
extracted after the and signals were removed in a nearly
model-independent way. Comparisons were made between the mass spectra
from the heavy targets () with the mass spectrum extracted from the
deuterium target. With respect to the -meson mass, we obtain a small
shift compatible with zero. Also, we measure widths consistent with standard
nuclear many-body effects such as collisional broadening and Fermi motion.Comment: 15 pages, 18 figures, 3 table
Inner ridge cells may be the main source of tectorial membrane type II collagen:evidence from quantitative mRNA in situ hybridization
GNAZ in human fetal cochlea:expression, localization, and potential role in inner ear function
Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family
Acclimation response of signalling molecules for high temperature stress on photosynthetic characteristics in rice genotypes
Not AvailableThree signalling molecules viz. salicylic acid, calcium (calcium chloride) and brassinosteroid (24-epibrassinolide) were exogenously applied at pre-anthesis stage to investigate their role in ameliorating high temperature effects on CO2 assimilation, chlorophyll fluorescence, photosynthesis pigments and their correlation with grain yield in two contrasting rice genotypes (Pusa Sugandh 5 and Nerica L 44). Three different concentrations of salicylic acid (SA) (0.1, 0.25 and 0.5 mM), calcium (Ca) (10, 50 and 100 mM of CaCl2) and brassinosteroid (BR) (0.5, 1 and 1.5 ppm of 24-epibrassinolide) were applied thrice through foliar spray at pre-anthesis stage. After foliar spray, one set of plants was exposed to high temperature stress (36 ± 1.7 C) using temperature tunnel for a period of 2 weeks. High temperature significantly decreased the net photosynthetic rate (PN), photosynthetic water use efficiency (PWUE), stomatal conductance (gs), total chlorophyll content as well as relative efficiency of PSII photochemistry (Fv/Fm) in both the genotypes. Transpirational water loss (E) and internal CO2 concentration (Ci) increased under high temperature stress. Lower concentration of SA (SA1 and SA2) and Ca (Ca1 and Ca2) improved PWUE by enhancing PN and reducing E as well as Ci. Similarly, all three concentrations of BR showed alleviation of high temperature stress effects on photosynthetic activity. The amelioration effect of signalling molecules for high temperature stress effects were more pronounced in PS 5 compared to Nerica L-44. Regression analysis indicated involvement of these molecules to nullify the effects of high temperature stress on PN in relation with grain yield per plant in both rice genotypes and was significant in PS 5. The findings of the study conclude that application of above signalling molecules may negate the high temperature stress induced reductions in PSII efficiency, PWUE, chlorophyll pigments and gaseous exchange in rice at pre-anthesis stage.Not Availabl
Clinical Characteristics of a Dutch DFNA9 Family with a Novel <i>COCH</i> Mutation, G87W
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