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Cysteine string protein-α is essential for the high calciumsensitivity of exocytosis in a vertebrate synapse
(Wiley, 2008)
Cysteine string protein (CSPa) is a synaptic vesicle protein present in most central and peripheral nervous system synapses. Previous studies demonstrated that the deletion of CSPa results in postnatal sensorial and motor ...
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Effects of choral singing versus health education on cognitive decline and aging: a randomized controlled trial
(Impact Journals, 2020)
We conducted a randomized controlled trial to examine choral singing’s effect on cognitive decline in aging. Older Singaporeans who were at high risk of future dementia were recruited: 47 were assigned to choral singing ...
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May anomalous X chromosome methylation be responsible for the spontaneous abortion of a male foetus?
(Indian Academy of Sciences, 2008-12-01)
Pregnancy loss is an important reproductive problem which appears to be highly associated with genetic factors. A spontaneous abortion occurred before prenatal diagnosis could be performed, in a woman who carried a fragile ...
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Orai1α, but not Orai1β, co-localizes with TRPC1 and is required for its plasma membrane location and activation in HeLa cells
(Springer, 2022)
The identification of two variants of the canonical pore-forming subunit of the Ca2+ release-activated Ca2+ (CRAC) channel Orai1, Orai1α and Orai1β, in mammalian cells arises the question whether they exhibit different ...
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Differential impairment of catecholaminergic cell maturation and survival by genetic mitochondrial complex II dysfunction
(2012)
The SDHD gene (subunit D of succinate dehydrogenase) has been shown to be involved in the generation of paragangliomas and pheochromocytomas. Loss of heterozygosity of the normal allele is necessary for tumor transformation ...
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Examining the immune signatures of SARS-CoV-2 infection in pregnancy and the impact on neurodevelopment: protocol of the SIGNATURE longitudinal study
(FRONTIERS MEDIA SA, 2022)
The COVID-19 pandemic represents a valuable opportunity to carry out cohort studies that allow us to advance our knowledge on pathophysiological mechanisms of neuropsychiatric diseases. One of these opportunities is ...
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Brugada syndrome masked by complete left bundle branch block: A clinical and functional study of its association with the p.1449Y>H SCN5A variant
(Wiley Periodicals, LLC., 2021-07)
SCN5A gene variants are associated with both Brugada syndrome and conduction disturbances, sometimes expressing an overlapping phenotype. Functional consequences of SCN5A variants assessed by patch‐clamp electrophysiology ...
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Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy
(OXFORD UNIV PRESS, 2016)
Spinal muscular atrophy (SMA) is the most frequent genetic cause of infant mortality. The disease is characterized by progressive muscle weakness and paralysis of axial and proximal limb muscles. It is caused by homozygous ...
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Hepatocellular carcinoma risk-stratification based on ASGR1 in circulating epithelial cells for cancer interception
(Frontiers, 2022-11-28)
Purpose: Lack of diagnostic and prognostic biomarkers in hepatocellular carcinoma impedes stratifying patients based on their risk of developing cancer. The aim of this study was to evaluate phenotypic and genetic heterogeneity ...