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| http://dx.doi.org/10.1177/1535759721990043 | DOI Listing |
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Comparative chloroplast genome analysis of five widespread species ( L.) and development of molecular markers for their discrimination.
Front Genet
December 2024
College of Smart Agriculture, Chongqing University of Arts and Sciences, Chongqing, China.
Background: Zanthoxylum L., an important genus in the Rutaceae family, has great edible and medical values. However, the high degree of morphological similarity among species and the lack of sufficient chloroplast (cp) genomic resources have greatly impeded germplasm identification and phylogenetic analyses of
Methods: Here we assembled cp genomes of five widespread species (, , , and ) in China as a case study, comparative analysis of these assembled cp genomes.
The Association of Mitochondrial tRNA G5783A Mutation with Major Depressive Disorder in Two Han Chinese Families.
Neuropsychiatr Dis Treat
January 2025
Department of Psychiatry, Suzhou Guangji Hospital, Suzhou, People's Republic of China.
Objective: In this study, we examined the genetic, medical, and molecular traits of two Han Chinese families with the tRNA G5783A mutation to investigate the relationship between mitochondrial DNA (mtDNA) mutations and major depressive disorder (MDD).
Methods: Clinical data and comprehensive mitochondrial genomes were collected from the two families. Variants were assessed for evolutionary conservation, allelic frequencies, and their structural and functional impacts.
Two Novel Biallelic Variants in the Gene: The First Italian Case and a Literature Review.
Genes (Basel)
December 2024
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old girl presenting interstitial lung disease, supratentorial leukoencephalopathy with brain cysts, hepatic dysfunction, hypoalbuminemia, skin and joint hyperlaxity, growth retardation, and dysmorphic features.
View Article and Find Full Text PDFHuman genetic variants can affect TB and HIV drug metabolism, which may lead to toxicity or treatment failure. We evaluated associations between genetic variants of antiretroviral therapy (ART) and HIV-1 outcomes among TB/HIV patients. We included RePORT-Brazil participants with TB/HIV who initiated standard TB treatment [2 months of isoniazid/rifampicin (or rifabutin)/pyrazinamide/ethambutol, then 4 months or more of isoniazid/rifampicin (or rifabutin)], and ART.
View Article and Find Full Text PDFNovel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.
Neurogenetics
January 2025
Department of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Background: Mutations in the LARS2 gene are correlated with Perrault syndrome, a rare autosomal recessive genetic disorder, that is typically characterized by sensorineural hearing loss and ovarian insufficiency.
Methods: Whole-exome sequencing and mutational analysis were employed to identify hearing loss-causing genes in a Chinese family from the Guangxi Zhuang Autonomous Region. Clinical phenotypes, audiological data, and color Doppler ultrasound of the family were collected, and a series of computer software were used to analyze the impact of genetic variations on protein structure and function.
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