نتایج جستجو برای: aspm

تعداد نتایج: 234  

Journal: :Human molecular genetics 2012
Anne Genin Julie Desir Nelle Lambert Martine Biervliet Nathalie Van Der Aa Genevieve Pierquin Audrey Killian Mario Tosi Montse Urbina Anne Lefort Frederick Libert Isabelle Pirson Marc Abramowicz

Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an important brain size reduction present since birth, associated with mild-to-moderate mental handicap and no other neurological feature nor associated malformation. Here, we report a mutation of CASC5 (aka Blinkin...

2011
Marina L. Ellefson Francis J. McNally

In animals, the female meiotic spindle is positioned at the egg cortex in a perpendicular orientation to facilitate the disposal of half of the chromosomes into a polar body. In Caenorhabditis elegans, the metaphase spindle lies parallel to the cortex, dynein is dispersed on the spindle, and the dynein activators ASPM-1 and LIN-5 are concentrated at spindle poles. Anaphase-promoting complex (AP...

2012
Benjamin M. Peter Emilia Huerta-Sanchez Rasmus Nielsen

An outstanding question in human genetics has been the degree to which adaptation occurs from standing genetic variation or from de novo mutations. Here, we combine several common statistics used to detect selection in an Approximate Bayesian Computation (ABC) framework, with the goal of discriminating between models of selection and providing estimates of the age of selected alleles and the se...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید