Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-Li-Bhoj Syndrome with 38 Additional Individuals

Medicine, Neurology, Life Sciences, Genetics,
Bryant-Li-Bhoj Syndrome   Phenotypic Spectrum   Neurodevelopmental Disorder   Neurodegenerative Disorder   H3.3  

Many Scientists Discover Expansion of Phenotypic Spectrum in Bryant-Li-Bhoj Syndrome Research Background Bryant-Li-Bhoj Syndrome (BLBS) was classified by OMIM in 2022 (OMIM: 619720, 619721), caused by germline variants in the H3.3 (H3F3A and H3F3B) genes. This syndrome is characterized by developmental delay/intellectual disability, craniofacial an...

Upstream Open Reading Frame-Introducing Variants in Patients with Primary Familial Brain Calcification

Medicine, Neurology, Life Sciences, Biochemistry, Genetics,
Primary Familial Brain Calcification   Genetic Variants   5' UTR   Protein Expression   Reporter Assay   Pathogenic Variants   Genetic Diagnosis  

Research Background and Problem Statement Primary Familial Brain Calcification (PFBC) is a rare neurological disorder characterized by microvascular calcification in the basal ganglia and other brain regions. Although at least six genes associated with PFBC have been identified (including SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, and JAM2), the pathogen...

Utilizing a Yeast Genetic Model to Validate the Pathogenicity of ACTA2 Variants Associated with Aortic Aneurysms

Medicine, Cardiovascular System, Life Sciences, Genetics,
ACTA2 gene   aortic aneurysms   yeast genetic model   pathogenicity validation   cytoskeleton   protein  

Pathological Study of a New ACTA2 Mutation Causing Aortic Aneurysm: Validation Using a Yeast Model Research Background Thoracic aortic aneurysm and dissection (TAAD) is a potentially fatal vascular disease with mechanisms that are still not fully understood. The ACTA2 gene encodes α-smooth muscle actin, a key component of the vascular smooth muscle...

Widespread Exclusive Yin Yang Haplotypes in the Human Genome

Life Sciences, Cell Biology, Biochemistry, Genetics,
human genome   yin yang haplotypes   genetic variation   gene association   systematic search  

Unique Yin Yang Haplotypes Widely Present in the Human Genome Research Background In genomic studies, yin yang haplotypes refer to pairs of haplotypes that differ at every site. While previous independent reports have indicated the existence of unique yin yang haplotypes, no systematic search had been conducted. Therefore, to better understand the ...

Genome, HLA and Polygenic Risk Score Analyses for Prevalent and Persistent Cervical Human Papillomavirus (HPV) Infections

Medicine, Infectious Diseases, Obstetrics and Gynecology, Oncology, Life Sciences, Biochemistry, Immunology, Genetics,
Genome   HLA   Polygenic Risk Score   Cervical HPV   Persistent Infection  

Genome-wide and Polygenic Risk Score Analysis of High-Risk Human Papillomavirus (hrHPV) Infection in the Cervix Background Cervical high-risk human papillomavirus (hrHPV) infection is the second largest carcinogenic infection globally, accounting for approximately 31.4% of all infection-related cancers (about 690,000 cases out of 2.2 million cancer...