• Functional classification of DNA variants by hybrid minigenes: identification of 30 spliceogenic variants of BRCA2 exons 17 and 18 

  Fraile-Bethencourt, Eugenia; Díez-Gómez, Beatriz; Velásquez-Zapata, Valeria; Acedo, Alberto; Sanz, David J.; Velasco, Eladio A. (Public Library of Science, 2017)

  Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic ...
• The regulation of monoamine oxidase A gene expression by distinct variable number tandem repeats 

  Manca, Maurizio; Pessoa, Veridiana; Lopez, Ana Illera; Harrison, Patrick T.; Miyajima, Fabio; Sharp, Helen; Pickles, Andrew; Hill, Jonathan; Murgatroyd, Chris; Bubb, Vivien J.; Quinn, John P. (Humana Press, 2018)

  The monoamine oxidase A (MAOA) uVNTR (upstream variable number tandem repeat) is one of the most often cited examples of a gene by environment interaction (GxE) in relation to behavioral traits. However, MAOA possesses a ...
• Sensorimotor control of breathing in the mdx mouse model of Duchenne muscular dystrophy 

  Burns, David P.; Roy, Arijit; Lucking, Eric; McDonald, Fiona B.; Gray, Sam; Wilson, Richard J.; Edge, Deirdre; O'Halloran, Ken D. (John Wiley & Sons, Inc., 2017-09-26)

  Patients with Duchenne muscular dystrophy (DMD) hypoventilate with consequential arterial blood gas derangement relevant to disease progression. Whereas deficits in DMD diaphragm are recognized, there is a paucity of ...
• Intrarenal Mas and AT(1) receptors play a role in mediating the excretory actions of renal interstitial angiotensin-(1-7) infusion in anaesthetized rats 

  O'Neill, Julie; Healy, Vincent; Johns, Edward J. (John Wiley & Sons, Inc., 2017-09-21)

  New Findings What is the central question of this study? Dietary sodium manipulation alters the magnitude of angiotensin‐(1–7) [Ang‐(1–7)]‐induced natriuresis. The present study sought to determine whether this was related ...
• Diaphragm muscle weakness following acute sustained hypoxic stress in the mouse is prevented by pretreatment with N-acetyl cysteine 

  O'Leary, Andrew J.; Drummond, Sarah E.; Edge, Deirdre; O'Halloran, Ken D. (Hindawi Ltd., 2018)

  Oxygen deficit (hypoxia) is a major feature of cardiorespiratory diseases characterized by diaphragm dysfunction, yet the putative role of hypoxic stress as a driver of diaphragm dysfunction is understudied. We explored ...

View more