Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7606767 | PMC |
| http://dx.doi.org/10.1111/cea.13708 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Rationale: Koolen-De Vries syndrome (KdVS, OMIM: 612452), also known as 17q21.31 microdeletion syndrome, is an autosomal dominant genetic disease. In the study, we analyze of clinical phenotype and gene variation of a child with Koolen-De Vries syndrome, review the literature to improve the understanding of the disease.
View Article and Find Full Text PDFOptical Genome Mapping Reveals Complex and Cryptic Rearrangement Involving :: Fusion in Acute Promyelocytic Leukemia.
Genes (Basel)
October 2024
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Acute promyelocytic leukemia (APL) is an aggressive subtype of acute myeloid leukemia (AML), characterized by the hallmark translocation t(15;17) resulting in a :: fusion. Once diagnosed, APL is now considered to be one of the most treatable forms of AML. However, without early detection and treatment, the disease is associated with rapid deterioration and lethal side effects.
View Article and Find Full Text PDFClinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).
Iran J Public Health
June 2024
Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT, USA.
Background: Bone Morphogenetic Proteins and the related Growth and Differentiation Factors (GDFs) are much conserved signaling proteins. GDF5 is pivotal for skeletal development. Several skeletal dysplasia and malformation syndromes are known as a result of mutations in .
View Article and Find Full Text PDFGenetic architectures of the human hippocampus and those involved in neuropsychiatric traits.
BMC Med
October 2024
Department of Epidemiology and Biostatistics, School of Public Health, Wuhan University, Wuhan, 430071, China.
Article Synopsis
- The hippocampus is important for various neuropsychiatric traits, and understanding its subfields' genetic relationships is vital as it has high heritability and could serve as biomarkers for these conditions.
- Researchers examined MRI data from over 41,000 UK participants to conduct genome-wide association studies on 24 hippocampal and subfield volume traits and assessed their genetic correlations with 10 neuropsychiatric traits.
- They identified 352 genetic variants related to these traits and found specific genes associated with various conditions, concluding that changes in hippocampal structures are linked to an increased risk of Parkinson's disease.
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.
Cerebellum
December 2024
Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, Rome, 00185, Italy.
Article Synopsis
- * A specific case is presented of a 53-year-old male who experienced progressive myoclonus-ataxia and was found to have a new genetic variant (c.3835G > A) in the CACNA1G gene.
- * The study suggests that this novel variant may affect calcium channel activity and emphasizes the significance of genetic testing for understanding myoclonus-ataxia disorders.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!