Role of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
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Prevalence and diagnostic dilemma of chromosomal abnormalities in the Niger Delta area of Nigeria; Is prenatal diagnosis worthwhile? [PDF]
Niger Med JAbbey M +15 more
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Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues
ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang +7 more
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Influence of parental age on chromosomal abnormalities in PGT-A embryos: exponentially increasing in the mother and completely null in the father. [PDF]
J Assist Reprod GenetMatorras R +9 more
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Biomarkers of lung congestion and injury in acute heart failure
ESC Heart Failure, Volume 12, Issue 2, Page 781-789, April 2025.Abstract Acute heart failure (AHF) classification and management are primarily based on lung congestion and/or hypoperfusion. The quantification of the vascular and tissue lung damage is not standard practice though biomarkers of lung injury may play a relevant role in this context.
Marco Guazzi +9 more
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HMGA2 overexpression with specific chromosomal abnormalities predominate in CALR and ASXL1 mutated myelofibrosis. [PDF]
LeukemiaHanda S +9 more
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Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
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Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities. [PDF]
AJNR Am J NeuroradiolMalik P +5 more
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Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review
Epileptic Disorders, EarlyView.Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
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