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Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering.
Ann Hum Genet
January 2025
Department of Genetics, Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, Tamil Nadu, India.
Article Synopsis
- Developmental stuttering is a complex speech disorder with a low genetic explanation rate; previous gene research has only accounted for about 2.1% - 3.7% of chronic cases, primarily focusing on certain lysosomal and signaling genes.* -
- This study aimed to identify new genetic factors linked to stuttering in a large family, using exome sequencing, which revealed a novel variant in the NAGPA gene and others in different genes associated with severe stuttering.* -
- The findings suggest that genetic diversity may influence stuttering, especially highlighting potential links between dopamine signaling and the disorder, indicating the need for further screening in larger populations.*
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.
Mov Disord
October 2024
Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Background: Progressive supranuclear palsy (PSP) is largely a sporadic disease with few reported familial cases. Genome-wide association studies (GWAS) in sporadic PSP in Caucasian populations have identified MAPT as the most commonly associated genetic risk locus with the strongest effect size. At present there are limited data on genetic factors associated with PSP in Asian populations.
View Article and Find Full Text PDFAssociation between inflammatory bowel disease and osteoporosis in European and East Asian populations: exploring causality, mediation by nutritional status, and shared genetic architecture.
Front Immunol
August 2024
Orthopedics and Traumatology, Affiliated Hospital of Liaoning University of Traditional Chinese Medicine, Shenyang, China.
Background: While previous research has established an association between inflammatory bowel disease (IBD) and osteoporosis (OP), the nature of this association in different populations remains unclear.
Objective: Our study used linkage disequilibrium scores(LDSC) regression analysis and Mendelian randomization(MR) to assess the genetic correlation and causal relationship between IBD and OP in European and East Asian populations.
Methods: We performed separate genetic correlation and causal analyses for IBD and OP in European and East Asian populations, used the product of coefficients method to estimate the mediating effect of nutritional status on the causal relationship, and used multi-trait analysis to explore the biological mechanisms underlying the IBD-nutrition-OP causal pathway.
Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
Mov Disord
October 2024
Veterans Affairs Puget Sound Health Care System, Seattle, Washington, USA.
Background: Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European-derived families, and little is known about their role in Latin American populations.
View Article and Find Full Text PDFKufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.
Neurogenetics
October 2024
Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, B-3000, Belgium.
Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-Rakeb syndrome. In addition to motor symptoms, a variety of other neurological and psychiatric symptoms may occur in affected individuals, including supranuclear gaze palsy and cognitive decline. Although psychotic symptoms are often reported, response to antipsychotic therapy is not well described in previous case reports/series.
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