linkstream2 microblog

QT:{{”

…Recurrent mutations in the potassium channel gene KCNJ5 that result in cell depolarization and Ca(2+) influx cause ∼40% of these tumors. We identified 5 somatic mutations (4 altering Gly403 and 1 altering Ile770) in CACNA1D, encoding a voltage-gated calcium channel, among 43 APAs without mutated KCNJ5…. We also identified de novo germline mutations at identical positions in two children with a previously undescribed syndrome featuring primary aldosteronism and neuromuscular abnormalities….
“}}

http://www.ncbi.nlm.nih.gov/pubmed/23913001

Nat Genet. 2013 Sep;45(9):1050-4. doi: 10.1038/ng.2695. Epub 2013 Aug 4.

Somatic and germline CACNA1D calcium channel mutations in
aldosterone-producing adenomas and primary aldosteronism.

Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Åkerström G, Björklund P, Carling T, Fahlke C, Hidalgo P,Lifton RP.

@stevenstrogatz27: David Brooks was right: This @NewYorker article about Aaron Swartz by Larissa MacFarquhar is outstanding

The Tragedy of Aaron #Swartz: Such a smart person (eg developer of RSS). Such an avoidable end.
http://www.newyorker.com/reporting/2013/03/11/130311fa_fact_macfarquhar HT @stevenstrogatz

@mims2m:
Weekend read: Why you need middle management, you feckless layabout

Hierarchy is good: Nice argument that hierarchies are essential in any #social setting
http://www.linkedin.com/today/post/article/20140112221140-15893932-hierarchy-is-good-hierarchy-is-essential-and-less-isn-t-always-better HT @Chris_Gammell @mims (1/2)

.@Chris_Gammell @mims Perhaps related to middle managers being fundamental for info flow in molecular #networks
http://www.ncbi.nlm.nih.gov/pubmed/20351254 (2/2)

http://www.linkedin.com/today/post/article/20140112221140-15893932-hierarchy-is-good-hierarchy-is-essential-and-less-isn-t-always-better

http://yalecollege.yale.edu/content/open-letter-yale-community-dean-mary-miller

http://www.biogazelle.com/seven-tips-bio-statistical-analysis-gene-expression-data

http://www.nytimes.com/2014/01/21/science/seeing-x-chromosomes-in-a-new-light.html?smid=tw-nytimesscience&seid=auto

@jflier: Superb article on the mysteries of the X chromosome by @carlzimmer http://t.co/xyDqwccdqA

A Cambrian moment
http://www.economist.com/news/special-report/21593580-cheap-and-ubiquitous-building-blocks-digital-products-and-services-have-caused … HT @CraigAPeterson @StefanGlaenzer (1/2)

.@CraigAPeterson @StefanGlaenzer Insightful? Are AWSesque platforms equivalent of 1 in a billion yr opportunity for startups? Not sure (2/2)

http://www.slate.com/blogs/bad_astronomy/2014/01/17/infinite_series_when_the_sum_of_all_positive_integers_is_a_small_negative.html

http://www.plosbiology.org/article/info%3Adoi%2F10.1371%2Fjournal.pbio.1001744

QT:{{”
We discovered abundant (12 to 24%) monoallelic expression of autosomal genes and that expression of the two alleles occurs independently. The monoallelic expression appeared random and dynamic because there was considerable variation among closely related embryonic cells. Similar patterns of monoallelic expression were observed in mature cells. Our allelic expression analysis also demonstrates the de novo inactivation of the paternal X chromosome.
“}}

http://www.sciencemag.org/content/343/6167/193.full