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 ...
Fox News - Sun, 26 Oct 2014 03:04

The Brain Wave: Research shows insight into learning and memory
Mutations in a single gene can cause separate disorders with notably different symptoms; for example, the same deletion on a segment of chromosome 15 can cause either Angelman syndrome or Prader-Willi syndrome, depending on whether the maternal or ...
Johns Hopkins News-Letter - Thu, 30 Oct 2014 10:03

Autism-linked deletion sparks symptoms via many genes
Deletion or duplication of 16p11.2, a chromosomal region linked to autism, may trigger symptoms via the interactions of genes both within and outside the region at a key point in development. Researchers presented these preliminary results Sunday at ...
SFARI News - Thu, 23 Oct 2014 07:23

PRC2 loss amplifies Ras signaling in cancer
... deletions of one allele of NF1 (encoding the Ras GTPase–activating protein NF1), together with inactivating mutations of the remaining NF1 allele, promote Ras activation and thereby drive tumorigenesis6 Notably, SUZ12 is located on chromosome 17q11 ...
Nature.com - Tue, 28 Oct 2014 23:43

​Cyclin C is a haploinsufficient tumour suppressor
Furthermore, the ​cyclin C encoding gene ​CCNC is heterozygously deleted in a significant fraction of human T-ALLs, and these tumours express reduced ​cyclin C levels. We also describe point mutations in human T-ALL that render ​cyclin-C–CDK ...
Nature.com - Sun, 26 Oct 2014 12:29

Frequent intragenic rearrangements of DPYD in colorectal tumours
DPYD is present as a single copy gene and is located on chromosome 1p21.3, and deletions and amplifications of the chromosome 1p22 region have been observed in many cancers, including colorectal cancer.45,46 The entire genomic region of the FRA1E ...
Nature.com - Tue, 28 Oct 2014 03:56

This Week in PNAS
Jeramiah Smith, assistant professor of biology at the University of Kentucky, discusses the use of PicoPLEX DNA-seq for de novo sequencing of single amphibian chromosomes, while John Langmore, co-founder and chief scientific officer of Rubicon, details ...
BioInform (blog) - Tue, 28 Oct 2014 09:07

Vanda reports total revenues of $14.8 million for third quarter 2014
SMS is a rare genetic disorder caused by a deletion on chromosome 17 and estimated to affect approximately 1 in 20,000 people. One of the cardinal features is a disruption of the sleep-wake cycle. Vanda has initiated an observational study in patients ...
News-Medical.net - Mon, 27 Oct 2014 05:56


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Last update: September 2014