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Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
Published 2024-08-01Get full text
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1042
The role of the corticotropin-releasing hormone and its receptors in the regulation of stress response
Published 2021-04-01“…In this regard, the study of the participation of the CRH system and its receptors in negative effects on hormone-dependent systems, as well as the possibility of preventing them, is a promising task of modern physiological genetics. In this review, attention will be paid to the role of CRH in the regulation of response to stress, as well as to the involvement of extrahypothalamic CRH in pathophysiology and the correction of mental disorders.…”
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Lack of GAGA protein in Trl mutants causes massive cell death in Drosophila spermatogenesis and oogenesis
Published 2021-06-01Get full text
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1045
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Untangling the Web of Systemic Autoinflammatory Diseases
Published 2014-01-01“…Further research should enhance our understanding of the genetics behind SAIDs, unearth triggers of inflammatory attacks, and result in improvement for their diagnosis and treatment.…”
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The glucocorticoid hypothesis of depression: history and perspectives
Published 2016-05-01Get full text
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1052
Serotonergic Modulation of Conditioned Fear
Published 2012-01-01“…Understanding how neuromodulators drive the associated learning and memory processes, including memory consolidation, retrieval/expression, and extinction (recall), is essential in the understanding of (individual differences in vulnerability to) these disorders and their treatment. The human and rodent studies I review here together reveal, amongst others, that acute selective serotonin reuptake inhibitor (SSRI) treatment facilitates fear conditioning, reduces contextual fear, and increases cued fear, chronic SSRI treatment reduces both contextual and cued fear, 5-HT1A receptors inhibit the acquisition and expression of contextual fear, 5-HT2A receptors facilitates the consolidation of cued and contextual fear, inactivation of 5-HT2C receptors facilitate the retrieval of cued fear memory, the 5-HT3 receptor mediates contextual fear, genetically induced increases in serotonin levels are associated with increased fear conditioning, impaired cued fear extinction, or impaired extinction recall, and that genetically induced 5-HT depletion increases fear conditioning and contextual fear. …”
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1053
Sex Differences in Parkinson’s Disease: A Narrative Review
Published 2024-12-01“…Abstract Sex differences in epidemiology, clinical features, and therapeutical responses are emerging in several movement disorders, even though they are still not widely recognized. …”
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Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
Published 2019-01-01Get full text
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Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations
Published 2010-01-01Get full text
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