Recessive LAMC3 mutations cause malformations of occipital cortical development

The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral occipital cortical gyration abnormalities. By using whole-exome sequencing, we initially identified a homozygous 2-bp deletion in LAMC3, the laminin γ3 gene, leading to an immediate premature termination codon. In two other affected individuals with nearly identical phenotypes, we identified a homozygous nonsense mutation and a compound heterozygous mutation. In human but not mouse fetal brain, LAMC3 is enriched in postmitotic cortical plate neurons, localizing primarily to the somatodendritic compartment. LAMC3 expression peaks between late gestation and late infancy, paralleling the expression of molecules that are important in dendritogenesis and synapse formation. The discovery of the molecular basis of this unusual occipital malformation furthers our understanding of the complex biology underlying the formation of cortical gyrations.     

Multiple newly identified loci associated with prostate cancer susceptibility

Prostate cancer is the most common cancer affecting males in developed countries. It shows consistent evidence of familial aggregation, but the causes of this aggregation are mostly unknown. To identify common alleles associated with prostate cancer risk, we conducted a genome-wide association study (GWAS) using blood DNA samples from 1,854 individuals with clinically detected prostate cancer diagnosed at 相似文献   

从高考数学谈高等数学与初等数学结合教学的必要性

高考是高等院校选拔人才的重要手段,其考试大纲和要求对中学教育起着引导作用,同时也对高等教育具有一定的启示作用。通过2018年四川高考数学一道题的解法和考生作答情况,对数学教育的现状和存在的问题进行分析,从而提出高等数学与初等数学结合的必要性和重要性。     

Social Innovation Action Research for Lifestyle Improvement of Child Labour in Tehran (Social Innovation’s Idea on Child Labour Lifestyle)

Systemic Practice and Action Research - Child labour has become an ever growing social problem in developing countries like Iran. This study presents a strategy for solving this problem regarding...     

Correction to: Social Innovation Action Research for Lifestyle Improvement of Child Labour in Tehran (Social Innovation’s Idea on Child Labour Lifestyle)

Systemic Practice and Action Research - A Correction to this paper has been published: https://doi.org/10.1007/s11213-021-09566-9