Y male sex chromosomes degenerate
Previous work in the Peichel lab (Ross and Peichel, 2008) provided cytogenetic evidence that the Y chromosome structurally diverged from the X through 3 inversions and a large deletion (6Mb). The new report reanalyzed these regions with higher ...
Fred Hutch News Service - Mon, 18 May 2015 11:00

X-linked Gene Mutations Cause Some Cases Of Male Infertility
First, the research team scanned the genomes of 15 men with azoospermia and found a deletion in part of the DNA coding of the testis-expressed gene 11 (TEX11) on the X-chromosome, which men inherit from their mothers. The alteration caused meiotic ...
Science 2.0 - Thu, 21 May 2015 08:56



Ibrutinib in the Management of B-cell Malignancies
Patients were stratified based on resistance to purine analogue or whether they had chromosome deletion 17p13.1. Ibrutinib was given at 420 mg daily until progression or toxicity; ofatumumab was given intravenously at 300 mg on week 1, then 2000 mg ...
Targeted Oncology - Fri, 22 May 2015 09:26

European Medicines Agency Issues Positive Opinion, Recommends Full ...
... refractory mantle cell lymphoma (MCL) and adult patients with chronic lymphocytic leukemia (CLL) who have received at least one prior therapy or in first line in the presence of 17p deletion or TP53 mutation in patients unsuitable for chemo ...
PR Newswire (press release) - Fri, 22 May 2015 05:00

Identification of genomic features in the classification of loss- and gain-of ...
... Gene2Pubmed [14]. Next, we tagged the mutations and their locations using tmVar, which is a previously published software, to extract mutation information from the literature : substitutions, insertions, deletions, and SNP and frameshift mutations ...
BMC Blogs Network - Wed, 20 May 2015 08:11

Pathei Mathos: What I Relearned the Last 12 Months
Three weeks ago, after genetic testing, doctors diagnosed her with something known as Smith-Magenis syndrome, described as a “deletion of genetic material from a specific region of chromosome 17 (17p11.2). Although this region contains multiple genes, ...
PJ Media - Mon, 18 May 2015 21:28



Walking with Angelman, From the Cellular to the Human
Braffith's daughter has what geneticists call a deletion. A single gene, UBE3A, is deleted on the 15th chromosome she inherited from her mother. She has a normal copy from her father, but for reasons no one yet understands, only the mother's copy is ...
UConn Today (blog) - Thu, 14 May 2015 06:34



ZooMontana hosts Montana's first 22q at the Zoo event
About one in 4,000 to 6,000 babies is born with the condition, whose hallmark is a deletion of a portion of the 22nd chromosome, hence its name. It's estimated that two to three babies are born with 22q in Montana each year. The condition that can be ...
Great Falls Tribune - Tue, 12 May 2015 14:23


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Last update: September 2014