A second hit? Pulmonary arterial hypertension, BMPR2 mutation, and exposure to prescription amphetamines
Sign Up to like & getrecommendations! Published in 2022 at "Pulmonary Circulation"
DOI: 10.1002/pul2.12053
Abstract: Abstract The second hit hypothesis in pulmonary hypertension refers to the development of pulmonary vascular disease in individuals at risk, after an additional exposure or “hit” to factors with potential injury to the pulmonary circulation,… read more here.
Keywords: second hit; hypertension; prescription amphetamines; exposure prescription ... See more keywords
Second hit hypothesis in dystonia: Dysfunctional cross talk between neuroplasticity and environment?
Sign Up to like & getrecommendations! Published in 2021 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2021.105511
Abstract: One of the great mysteries in dystonia pathophysiology is the role of environmental factors in disease onset and development. Progress has been made in defining the genetic components of dystonic syndromes, still the mechanisms behind… read more here.
Keywords: second hit; dystonia; evidence; hit hypothesis ... See more keywords
In Search of the Second Hit in Pulmonary Arterial Hypertension.
Sign Up to like & getrecommendations! Published in 2019 at "Circulation Research"
DOI: 10.1161/circresaha.118.314270
Abstract: Since the discovery of mutations in BMPR2 (bone morphogenetic protein receptor type II) gene in patients with pulmonary arterial hypertension (PAH), growing evidence from human genetics has supported a critical role for imbalanced signaling of… read more here.
Keywords: second hit; arterial hypertension; pulmonary arterial; search second ... See more keywords
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy
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DOI: 10.1172/jci99384
Abstract: DEP domain–containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid–sensing branch of the mTORC1 pathway. So far, its function in the brain remains largely unknown. Germline loss-of-function mutations in DEPDC5 have… read more here.
Keywords: focal cortical; second hit; cortical dysplasia; depdc5 ... See more keywords
Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis
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DOI: 10.1371/journal.pgen.1009112
Abstract: We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected carrier parents.… read more here.
Keywords: neurodevelopmental defects; phenotypic; second hit; hit genes ... See more keywords