Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.     

Inhibition of phospholipase A by a naturally occurring peptide inBothrops venoms

Zusammenfassung Im Schlangengift vonBothrops befindet sich ein Peptid, welches als Phospholipase-Hemmer beschrieben wird.     

Initial movement of the Karakorum Fault in western Tibet： constraints from SHRIMP U-Pb dating of zircons

The Karakorum Fault zone(KFZ)plays an important role in understanding the formation,evolvement and deformation of the Tibetan Plateau.The high-T dextral shearing metamorphic rocks,e.g.,mylonites or mylonitized gneisses-granites,locally crop out along the southeastern part of the KFZ in the Ayila Ri’gyüRange area.The SHRIMP U-Pb dating of the syn-kinematic crystallized zircons indicates that the initial age of the KFZ is~27 Ma,~10 Ma older than previous results.The extensive high-T dextral shearing along the KFZ started at least at 27-20 Ma,accompanied by the syn-kinematic emplacement of leuco-granites.Deformation and concomitant fluid circulation during shearing most likely occurred as early as at 25-13 Ma.The KFZ probably grew from southeast to northwest along the fault as a result of continuous convergence between the India plate and Eurasia plate.     

A map of the day-night contrast of the extrasolar planet HD 189733b

'Hot Jupiter' extrasolar planets are expected to be tidally locked because they are close (<0.05 astronomical units, where 1 au is the average Sun-Earth distance) to their parent stars, resulting in permanent daysides and nightsides. By observing systems where the planet and star periodically eclipse each other, several groups have been able to estimate the temperatures of the daysides of these planets. A key question is whether the atmosphere is able to transport the energy incident upon the dayside to the nightside, which will determine the temperature at different points on the planet's surface. Here we report observations of HD 189733, the closest of these eclipsing planetary systems, over half an orbital period, from which we can construct a 'map' of the distribution of temperatures. We detected the increase in brightness as the dayside of the planet rotated into view. We estimate a minimum brightness temperature of 973 +/- 33 K and a maximum brightness temperature of 1,212 +/- 11 K at a wavelength of 8 mum, indicating that energy from the irradiated dayside is efficiently redistributed throughout the atmosphere, in contrast to a recent claim for another hot Jupiter. Our data indicate that the peak hemisphere-integrated brightness occurs 16 +/- 6 degrees before opposition, corresponding to a hotspot shifted east of the substellar point. The secondary eclipse (when the planet moves behind the star) occurs 120 +/- 24 s later than predicted, which may indicate a slightly eccentric orbit.