Quiet boy with a missing piece of chromosome
“With 22q there can be up to 180 symptoms or side effects that come with this chromosome deletion. Caleb has been blessed with a few of them but he's not as extreme as some children are, thank God. He has learning challenges in school with math as far ...
Royal Gazette - Wed, 19 Nov 2014 04:11



Bradford teen with mental age of five ordered to have a fitness-to-work test
Ellie McDonald, 19, suffers from the extremely rare genetic disorder called Chromosome 7 Deletion, which means she is unable to eat, sleep or walk without the help of mother Louise. In preparation for Ellie leaving her special needs school, her mother ...
Daily Mail - Wed, 26 Nov 2014 05:29

Cohesin and chromosome loops
They showed that deletion of CTCF sites at five key ESC genes led to the altered expression of nearby genes, providing evidence that these structures have a functional role. The authors suggest that association of enhancers and target genes in ...
Nature.com - Sun, 23 Nov 2014 22:36

Stem cells to repair broken chromosomes
It's caused by a loss of part of a chromosome, chromosome 17, the tip of the short arm, AND about two million base payers or more are deleted on one of the chromosomes to cause the disease of lissencephaly, it's a special type called Miller Dieker ...
KLAS-TV - Fri, 07 Nov 2014 13:32



The new genetic disorder every mom needs to know about
It's the most common deletion syndrome, meaning there is a missing section of a chromosome from the 46 chromosomes that make up our DNA. Unlike conditions like Turner Syndrome, where a whole chromosome is missing, or Down Syndrome, where ...
MyFox Chicago - Thu, 30 Oct 2014 16:32

Rad18 and Rnf8 facilitate homologous recombination by two distinct ...
Thus, Rad18 and Rnf8 promote HR-dependent repair in a manner distinct from Ubc13. Remarkably, deletion of Ku70, a protein essential for nonhomologous end joining (NHEJ) significantly restored tolerance of RAD18−/− and RNF8−/− cells to camptothecin and ...
Nature.com - Mon, 24 Nov 2014 02:55

The phenotypic manifestations of rare genic CNVs in autism spectrum disorder
These findings add to previous reports by specifically implicating deletions, as opposed to duplications, associated with advanced paternal age. Although chromosomal aberrations are associated with advanced paternal age,60 a well-documented risk factor ...
Nature.com - Tue, 25 Nov 2014 00:55

Cks1 is a critical regulator of hematopoietic stem cell quiescence and cycling ...
For instance, p27 has been shown to be important for regulation of cell cycle activity of more committed HPC, but lack of p27 alone did not affect HSCs number or cycling.6 Conditional deletion of p57 in hematopoietic cells demonstrated that p57 is a ...
Nature.com - Mon, 24 Nov 2014 02:56


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Last update: September 2014