Publications by authors named "Gustavo Jose Pereira"

Polybrominated Diphenyl Ethers (PBDEs) are a major class of brominated flame retardants, and their widespread use has led them to be considered contaminants with emerging concern. PBDEs have been detected in the indoor air, house dust, food, and all environmental compartments. The congener BDE-47 (2,2',4,4'-tetrabromodiphenyl ether) is the most prevalent, and hepatotoxicity, neurotoxicity, immunological changes, endocrine disruption, and genotoxic potential have been related to its exposure.

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We report five individuals with loss-of-function of the X-linked AMMECR1: a girl with a balanced X-autosome translocation and inactivation of the normal X-chromosome; two boys with maternally inherited and de novo nonsense variants; and two half-brothers with maternally inherited microdeletion variants. They present with short stature, cardiac and skeletal abnormalities, and hearing loss. Variants of unknown significance in AMMECR1 in four male patients from two families with partially overlapping phenotypes were previously reported.

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Article Synopsis
  • The study shows that hypertension increases skeletal muscle fibrosis, particularly in the tibialis anterior muscle of spontaneously hypertensive rats (SHR) compared to normotensive rats (Wistar rats, WR).
  • treatments targeting angiotensin II (AngII) receptors, specifically using a microRNA (Lv-mirAT1a) that inhibits AngII receptor type 1 (AT1), significantly reduced fibrosis in hypertensive muscle by 50%.
  • Overall, the findings suggest that targeting the AngII-AT1 pathway could be an effective strategy to mitigate muscle fibrosis in hypertensive individuals without affecting other organs.
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