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Lymphangioleiomyomatosis Biomarkers Linked to Lung Metastatic Potential and Cell Stemness
(Public Library Science, 2015-07-07)
Lymphangioleiomyomatosis (LAM) is a rare lung-metastasizing neoplasm caused by the proliferation of smooth muscle-like cells that commonly carry loss-of-function mutations in either the tuberous sclerosis complex 1 or 2 ...
Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
(Public Library of Science, 2013-09-18)
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride ...
Surface Expression and Subunit Specific Control of Steady Protein Levels by the Kv7.2 Helix A-B Linker
(Public Library of Science, 2013-10-24)
Kv7.2 and Kv7.3 are the main components of the neuronal voltage-dependent M-current, which is a subthreshold potassium conductance that exerts an important control on neuronal excitability. Despite their predominantly ...
Adenylate Cyclase Toxin Promotes Internalisation of Integrins and Raft Components and Decreases Macrophage Adhesion Capacity
(Public Library of Science, 2011-02-23)
Bordetella pertussis, the bacterium that causes whooping cough, secretes an adenylate cyclase toxin (ACT) that must be post-translationally palmitoylated in the bacterium cytosol to be active. The toxin targets phagocytes ...
Accuracy in Copy Number Calling by qPCR and PRT : A Matter of DNA
(Public Library of Science, 2011-12-13)
The possible implication of copy number variation (CNV) in the genetic susceptibility to human disease needs to be assessed using robust methods that can be applied at a population scale. In this report, we analyze the ...
An Optical Fiber Bundle Sensor for Tip Clearance and Tip Timing Measurements in a Turbine Rig
(MDPI, 2013-06)
When it comes to measuring blade-tip clearance or blade-tip timing in turbines, reflective intensity-modulated optical fiber sensors overcome several traditional limitations of capacitive, inductive or discharging probe ...
Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene
(Public Library Science, 2015-07-06)
Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although ...
Second-to-Fourth Digit Ratio Has a Non-Monotonic Impact on Altruism
(PLoS ONE, 2013-05-10)
Gene-culture co-evolution emphasizes the joint role of culture and genes for the emergence of altruistic and cooperative behaviors and behavioral genetics provides estimates of their relative importance. However, these ...
Validity of Resting Energy Expenditure Predictive Equations before and after an Energy-Restricted Diet Intervention in Obese Women
(Public Library of Science, 2011-09-06)
Background: We investigated the validity of REE predictive equations before and after 12-week energy-restricted diet intervention in Spanish obese (30 kg/m(2)>BMI<40 kg/m(2)) women.-- Methods: We measured REE (indirect ...
Apaf-1 Inhibitors Protect from Unwanted Cell Death in In Vivo Models of Kidney Ischemia and Chemotherapy Induced Ototoxicity
(Public Library Science, 2014-10-20)
Background: Excessive apoptosis induces unwanted cell death and promotes pathological conditions. Drug discovery efforts aimed at decreasing apoptotic damage initially targeted the inhibition of effector caspases. Although ...