MMP21 is mutated in human heterotaxy and is required for normal left-right ...
Parametric genome-wide linkage analysis performed on families 6 and 7 (analyzed simultaneously) demonstrated a linkage peak with a logarithm of odds (LOD) score of 3.508 on a region of chromosome 10 containing MMP21 (Supplementary Fig. 4); no other ... - Mon, 05 Oct 2015 08:22

More complex transcriptional regulation and stress response by MOF
MOF was originally identified in Drosophila as a dosage-compensation factor in males where transcription from genes located on the X-chromosome must be increased two-fold as compared with females to compensate for not having two copies of that ... - Mon, 05 Oct 2015 02:56

Genome-wide meta-analysis reveals common splice site acceptor variant in ...
We identified genome-wide significant association in the alpha-4 nicotinic receptor subunit (CHRNA4) gene on chromosome 20q13: lowest P=8.0 × 10−9 across all the samples for rs2273500-C (frequency=0.15; odds ratio=1.12 and 95% confidence interval=1.08 ... - Tue, 06 Oct 2015 06:41

A novel locus of resistance to severe malaria in a region of ancient balancing ...
Using the human reference sequence and mapped sequence read data from the 1000 Genomes Project, we identified the boundaries of a 350 kb region of sequence homology surrounding these genes as well as a set of segregating gene deletions (Extended Data ... - Wed, 30 Sep 2015 09:50

The EGFR-HER2 module: a stem cell approach to understanding a prime target and ...
Whole-genome and single chromosome duplications, which occurred in the course of evolution, expanded the primordial EGFR module, such that 4 receptors (EGFR, HER2/ERBB2, HER3/ERBB3 and HER4/ERBB4) and 11 growth factors exist in mammals. ..... Genetic ... - Mon, 05 Oct 2015 03:01

New Autism Genes Are Revealed in Largest-Ever Study
A case in point is DiGeorge syndrome, a medical condition caused by a CNV deletion on chromosome 22, often resulting in a diagnosis of ASD. "We have solved a decades-old question about which of the many genes deleted in DiGeorge Syndrome is the ...
Drug Discovery & Development - Mon, 28 Sep 2015 15:41

Negative regulation of RNA-binding protein HuR by tumor-suppressor ECRG2
ECRG2-mediated growth suppression was associated with activation of caspases and marked reduction in the levels of apoptosis inhibitor, X chromosome-linked inhibitor of apoptosis protein (XIAP). ECRG2, via RNA-binding protein human antigen R ... - Mon, 05 Oct 2015 02:56

Human genomics: The end of the start for population sequencing
In the second paper (page 75), Sudmant et al. explore more-complex changes that affect larger portions of the chromosome. These structural variants, which can be up to 500,000 bases long, ... Both studies make huge strides in increasing the accuracy ... - Wed, 30 Sep 2015 09:57

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Last update: September 2014