CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.     

Diagnosis of the presence of meconium in amniotic fluid by dispersion curves of the longitudinal relaxations of protons]

Dispersion curves of the longitudinal relaxation T1 of protons in healthy amniotic fluid in a meconium solution are distinct at low Larmor frequencies (V0 less than 100 kHz). We are thus able to distinguish these fluids by T1 measurements in this range.     

A common inversion under selection in Europeans

A refined physical map of chromosome 17q21.31 uncovered a 900-kb inversion polymorphism. Chromosomes with the inverted segment in different orientations represent two distinct lineages, H1 and H2, that have diverged for as much as 3 million years and show no evidence of having recombined. The H2 lineage is rare in Africans, almost absent in East Asians but found at a frequency of 20% in Europeans, in whom the haplotype structure is indicative of a history of positive selection. Here we show that the H2 lineage is undergoing positive selection in the Icelandic population, such that carrier females have more children and have higher recombination rates than noncarriers.     

Mutations in different components of FGF signaling in LADD syndrome

Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3) in LADD families, and in one further LADD family, we detected a mutation in the gene encoding fibroblast growth factor 10 (FGF10), a known FGFR ligand. These findings increase the spectrum of anomalies associated with abnormal FGF signaling.     

NVF/DMAM的共聚反应和相应共聚物的玻璃化温度(NVF-体系的共聚反应及其共聚物性能…Ⅳ)

用N-乙烯基甲酰胺与甲基丙烯酸缩水甘油酯进行不同摩尔配比的共聚反应,分析研究不同摩尔配比的共聚反应过程.并对共聚产物进行元素分析,测定相应共聚物的玻璃化转变温度.为N-乙烯基甲酰胺与它的共聚物代替聚丙烯酰胺及其相应系列共聚物的开发提供了实验依据.     

NVF/DMAM的共聚反应和相应共聚物的玻璃化温度(NVF-体系的共聚反应及其共聚物性能…Ⅲ)

用N-乙烯基甲酰胺与N,N-二甲基丙烯酰胺进行不同摩尔配比的共聚反应,分析研究不同摩尔配比的共聚反应过程.并对共聚产物进行元素分析和红外光谱分析,测定了相应共聚物的玻璃化转变温度.为N-乙烯基甲酰胺与它的共聚物代替聚丙烯酰胺及其相应系列共聚物的开发提供了实验依据.     

N-乙烯基甲酰胺与乙烯基环己酰胺的共聚反应

N-乙烯基甲酰胺（NVV）是丙烯酰胺（AM）的同分异构体，用N-乙烯基甲酰胺聚合物代替聚丙烯酰胺及其共聚物，可减少二次环境污染．用N-乙烯基甲酰胺与丙烯酰胺进行不同摩尔配比的共聚反应，然后用乙烯基环己酰胺（NVCA）代替丙烯酰胺与N-乙烯基甲酰胺继续进行不同摩尔配比的共聚反应，观察不同单体，不同摩尔配比的共聚反应过程．对共聚产物进行元素分析和红外光谱分析，测定了相应共聚物的玻璃化转变温度．     

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding NR2 subunits each form highly Ca2(+)-permeable cation channels which are blocked by extracellular Mg2(+) in a voltage-dependent manner. Either GRIN2B or GRIN2A, encoding the NMDA receptor subunits NR2B and NR2A, was found to be disrupted by chromosome translocation breakpoints in individuals with mental retardation and/or epilepsy. Sequencing of GRIN2B in 468 individuals with mental retardation revealed four de novo mutations: a frameshift, a missense and two splice-site mutations. In another cohort of 127 individuals with idiopathic epilepsy and/or mental retardation, we discovered a GRIN2A nonsense mutation in a three-generation family. In a girl with early-onset epileptic encephalopathy, we identified the de novo GRIN2A mutation c.1845C>A predicting the amino acid substitution p.N615K. Analysis of NR1-NR2A(N615K) (NR2A subunit with the p.N615K alteration) receptor currents revealed a loss of the Mg2(+) block and a decrease in Ca2(+) permeability. Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected.