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Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.
BMC Pediatr
January 2025
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, 123 Tianfei Alley, Nanjing, 210004, People's Republic of China.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.
Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.
White matter hyperintensities (WMH) are areas of increased lucency visualized on T2-weighted magnetic resonance imaging (MRI), including fluid attenuated inversion recovery (FLAIR) sequences. Over the past 15 years we have been examining WMH in studies of cognitive aging among clinical, community-based, and populations at genetic risk to understand the role of vascular brain injury in Alzheimer's disease (AD) onset, symptom progression, and pathogenesis. Our findings suggest that regional WMH, particularly when distributed in posterior areas, increase risk for clinical AD and contribute to the clinical course of the disease, even among genetic population with relatively low rates of vascular risk factor, like adults with Down syndrome and with autosomal dominant genetic mutations for AD.
View Article and Find Full Text PDFBiomarkers.
Alzheimers Dement
December 2024
National Yang Ming Chiao Tung University, Hsinchu, Taiwan.
Background: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a monogenic subcortical ischemic vascular dementia (SIVD) caused NOTCH3 gene mutations. Many different neuroimaging methods have been used to investigate the association between neuroimaging changes and clinical symptoms. We investigated the correlation between peak width of skeletonized mean diffusivity (PSMD) values and cognitive functions in preclinical CADASIL patients without a history of stroke or dementia, comparing them to white matter hyperintensities (WMH) volumes.
View Article and Find Full Text PDFEvolved and Plastic Gene Expression in Adaptation of a Specialist Fly to a Novel Niche.
Mol Ecol
January 2025
Department of Biology, Lund University, Lund, Sweden.
How gene expression evolves to enable divergent ecological adaptation and how changes in gene expression relate to genomic architecture are pressing questions for understanding the mechanisms enabling adaptation and ecological speciation. Furthermore, how plasticity in gene expression can both contribute to and be affected by the process of ecological adaptation is crucial to understanding gene expression evolution, colonisation of novel niches and response to rapid environmental change. Here, we investigate the role of constitutive and plastic gene expression differences between host races, or host-specific ecotypes, of the peacock fly Tephritis conura, a thistle bud specialist.
View Article and Find Full Text PDFAlzheimer's Imaging Consortium.
Alzheimers Dement
December 2024
Stanford University, School of Medicine, Stanford, CA, USA.
Background: Alzheimer's disease (AD) is the most common form of dementia. Neuropathologically, AD stands out as a mixed proteinopathy. Beta-amyloid and tau biomarkers can now add in-vivo support to the AD diagnosis.
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