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Quantitative assessment of the associations between ABCA1 gene polymorphism and glaucoma risk, evidence from a meta-analysis.
Medicine (Baltimore)
November 2024
Department of Ophthalmology, Chong Gang General Hospital, Chongqing, China.
Article Synopsis
- * A thorough search of major scientific databases revealed a significant association between ABCA1 polymorphisms and glaucoma risk, particularly in Asian populations, while no such link was found in Caucasian or mixed groups.
- * The findings suggest that genetic susceptibility to glaucoma may vary by ethnicity, emphasizing the need to consider these differences in future genetic research.
[Homozygous ABCA1 gene mutated Tangier disease complicated with diabetes mellitus: a case report].
Zhonghua Nei Ke Za Zhi
September 2024
Departments of Endocrinology, Minhang Hospital, Fudan University, Shanghai 201100, China.
Atypical Presentation of Tangier Disease-Expanding the Clinical Spectrum.
J Clin Neuromuscul Dis
September 2023
Departments of Neurology and.
Tangier disease is an autosomal recessive multisystem metabolic disorder with neuromuscular manifestations including peripheral neuropathy such as multifocal mononeuropathy or pseudosyringomyelia patterns. We report a novel phenotype of Tangier disease with predominant anterior horn cell involvement. A 16-year-old adolescent girl born to consanguineous parents had a 1-year history of hip girdle weakness with waddling gait and progressive atrophy of the right leg.
View Article and Find Full Text PDFPrimary open-angle glaucoma risk prediction with ABCA1 and LOC102723944 variants and their genotype-phenotype correlations in southern Chinese population.
Mol Genet Genomics
November 2023
Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, Guangdong, Shantou, China.
Glaucoma is a leading cause of irreversible visual impairment and blindness worldwide. Previous genome-wide association studies have identified caveolin-1 (CAV1), ATP-binding cassette A1 (ABCA1), and forkhead box C1 (FOXC1) loci associated with primary open angle glaucoma (POAG), a major subtype of glaucoma. This study aimed to fine map the association pattern of FOXC1 locus with POAG and determine the correlations of FOXC1, ABCA1, and CAV1 variants with ocular and lipidemic parameters in southern Chinese population.
View Article and Find Full Text PDFRare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.
Front Genet
April 2023
Grupo de Investigação Cardiovascular, Unidade de Investigação e Desenvolvimento, Departamento de Promoção da saúde e doenças não transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal.
Article Synopsis
- The study investigates 7 rare cases of dyslipidaemia linked to low levels of LDL or HDL cholesterol, utilizing advanced genetic testing methods including Next Generation Sequencing (NGS) to identify specific genetic mutations.
- Among the patients, distinct conditions like Fish Eye Disease and Abetalipoproteinemia were diagnosed, with new and rare genetic variants identified, highlighting the role of genetic factors in these lipid disorders.
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