3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000443
Abstract: The 3MC syndromes types 1–3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive facial… read more here.
Keywords: molecular findings; findings previously; phenotypic; spectrum 3mc ... See more keywords
AUTS2 Syndrome: Molecular Mechanisms and Model Systems
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.858582
Abstract: AUTS2 syndrome is a genetic disorder that causes intellectual disability, microcephaly, and other phenotypes. Syndrome severity is worse when mutations involve 3’ regions (exons 9-19) of the AUTS2 gene. Human AUTS2 protein has two major… read more here.
Keywords: model systems; molecular mechanisms; syndrome molecular; auts2 syndrome ... See more keywords
The Serotonin Syndrome: From Molecular Mechanisms to Clinical Practice
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DOI: 10.3390/ijms20092288
Abstract: The serotonin syndrome is a medication-induced condition resulting from serotonergic hyperactivity, usually involving antidepressant medications. As the number of patients experiencing medically-treated major depressive disorder increases, so does the population at risk for experiencing serotonin… read more here.
Keywords: clinical practice; serotonin syndrome; mechanisms clinical; syndrome molecular ... See more keywords
Metabolic Syndrome: From Molecular Mechanisms to Novel Therapies
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DOI: 10.3390/ijms221810038
Abstract: The metabolic syndrome (MetS) consists of a cluster of metabolic abnormalities including central obesity, insulin resistance, glucose intolerance, hypertension, and atherogenic dyslipidemia [...]. read more here.
Keywords: syndrome molecular; metabolic syndrome; molecular mechanisms; novel therapies ... See more keywords
Fragile X Syndrome: From Molecular Aspect to Clinical Treatment
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DOI: 10.3390/ijms23041935
Abstract: Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the full mutation as well as highly localized methylation of the fragile X mental retardation 1 (FMR1) gene on the long arm of the X… read more here.
Keywords: molecular aspect; aspect clinical; clinical treatment; treatment ... See more keywords