keyword
https://read.qxmd.com/read/38464909/underrepresentation-of-diverse-ancestries-drives-uncertainty-in-genetic-variants-found-in-cardiomyopathy-associated-genes
#21
JOURNAL ARTICLE
Michael B Rosamilia, Alexandra M Markunas, Priya S Kishnani, Andrew P Landstrom
BACKGROUND: Thousands of genetic variants have been identified in cardiomyopathy-associated genes. Diagnostic genetic testing is key for evaluation of individuals with suspected cardiomyopathy. While accurate variant pathogenicity assignment is important for diagnosis, the frequency of and factors associated with clinically relevant assessment changes are unclear. OBJECTIVES: The authors aimed to characterize pathogenicity assignment change in cardiomyopathy-associated genes and to identify factors associated with this change...
February 2024: JACC Adv
https://read.qxmd.com/read/38463519/the-analyses-of-human-mcph1-dna-repair-machinery-and-genetic-variations
#22
JOURNAL ARTICLE
Oluwafemi G Oluwole
Causal mutations in the MCPH1 gene have been associated with disorders like microcephaly, and recently congenital hearing impairment. This study examined the MCPH1 DNA repair machinery and identified genetic variations of interest in gnomAD database to discuss the biological roles and effects of rare variants in MCPH1-related diseases. Notably, MCPH1 coordinates two of the seven known mechanisms of DNA repair which confirmed its roles in neurogenesis and chromatin condensation. A pathogenic missense variant in MCPH1 p...
2024: Open Medicine (Warsaw, Poland)
https://read.qxmd.com/read/38460087/in-silico-prediction-of-functional-snps-interrupting-antioxidant-defense-genes-in-relation-to-covid-19-progression
#23
JOURNAL ARTICLE
Somayeh Hashemi Sheikhshabani, Soudeh Ghafouri-Fard, Zeinab Amini-Farsani, Parastoo Modarres, Sharareh Khazaei Feyzabad, Zahra Amini-Farsani, Nasibeh Shaygan, Mir Davood Omrani
The excessive production of reactive oxygen species and weakening of antioxidant defense system play a pivotal role in the pathogenesis of different diseases. Extensive differences observed among individuals in terms of affliction with cancer, cardiovascular disorders, diabetes, bacterial, and viral infections, as well as response to treatments can be partly due to their genomic variations. In this work, we attempted to predict the effect of SNPs of the key genes of antioxidant defense system on their structure, function, and expression in relation to COVID-19 pathogenesis using in silico tools...
March 9, 2024: Biochemical Genetics
https://read.qxmd.com/read/38455195/regulatory-effects-of-mangiferin-on-lps-induced-inflammatory-responses-and-intestinal-flora-imbalance-during-sepsis
#24
JOURNAL ARTICLE
Bo-Tao Chang, Yang Wang, Wen-Lian Tu, Zhi-Qing Zhang, Yan-Fang Pu, Li Xie, Fang Yuan, Ying Gao, Ning Xu, Qi Yao
Studies suggest that mangiferin (MAF) has good therapeutic effects on chronic bronchitis and hepatitis. Also, it is one of the antiviral ingredients in Anemarrhena asphodeloides Bunge. However, its effect on the LPS-induced inflammation and intestinal flora during sepsis remains unclear yet. In the present study, LPS-stimulated inflammation RAW264.7 cells and LPS-induced sepsis mice were used to evaluate the efficacy of MAF in vitro and in vivo. 16S rDNA sequencing was performed to analyze the characteristics of intestinal flora of the sepsis mice...
March 2024: Food Science & Nutrition
https://read.qxmd.com/read/38453747/a-rapid-inexpensive-and-effective-method-for-the-efficient-isolation-of-genomic-dna-from-gram-negative-bacteria
#25
JOURNAL ARTICLE
Lihini Ranesha Weerakkody, Chamindri Witharana
Currently, there are several protocols to extract bacterial DNA based on different principles. However, the quantity and the quality of the DNA obtained by each method are highly variable and microorganism dependent. In most of these classical crude methods, highly toxic and hazardous organic solvents such as phenol and chloroform are used for deproteinization, whereas in certain protocols, expensive enzymes including RNases and Proteinases are used. This study was designed to introduce a simple, rapid, inexpensive and effective genomic DNA isolation procedure for Gram-negative bacteria, without the usage of toxic chemicals and costly enzymes...
March 7, 2024: Molecular Genetics and Genomics: MGG
https://read.qxmd.com/read/38447059/population-genetic-analysis-based-on-the-polymorphisms-mediated-by-transposons-in-the-genomes-of-pig
#26
JOURNAL ARTICLE
Wencheng Zong, Runze Zhao, Xiaoyan Wang, Chenyu Zhou, Jinbu Wang, Cai Chen, Naiqi Niu, Yao Zheng, Li Chen, Xin Liu, Xinhua Hou, Fuping Zhao, Ligang Wang, Lixian Wang, Chengyi Song, Longchao Zhang
Transposable elements (TEs) mobility is capable of generating a large number of structural variants (SVs), which can have considerable potential as molecular markers for genetic analysis and molecular breeding in livestock. Our results showed that the pig genome contains mainly TE-SVs generated by short interspersed nuclear elements (SINEs) (51,873/76.49%), followed by long interspersed nuclear elements (LINEs) (11,131/16.41%), and more than 84% of the common TE-SVs (Minor allele frequency, MAF > 0.10) were validated to be polymorphic...
March 6, 2024: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes
https://read.qxmd.com/read/38438955/an-elevated-level-of-interleukin-17a-in-a-senegalese-malaria-cohort-is-associated-with-rs8193038-il-17a-genetic-variant
#27
JOURNAL ARTICLE
Fatou Thiam, Gora Diop, Cedric Coulonges, Celine Derbois, Alassane Thiam, Abou Abdallah Malick Diouara, Mame Ndew Mbaye, Mamadou Diop, Cheikh Momar Nguer, Yakhya Dieye, Babacar Mbengue, Jean-Francois Zagury, Jean-Francois Deleuze, Alioune Dieye
Malaria infection is a multifactorial disease partly modulated by host immuno-genetic factors. Recent evidence has demonstrated the importance of Interleukin-17 family proinflammatory cytokines and their genetic variants in host immunity. However, limited knowledge exists about their role in parasitic infections such as malaria. We aimed to investigate IL-17A serum levels in patients with severe and uncomplicated malaria and gene polymorphism's influence on the IL-17A serum levels. In this research, 125 severe (SM) and uncomplicated (UM) malaria patients and 48 free malaria controls were enrolled...
March 4, 2024: BMC Infectious Diseases
https://read.qxmd.com/read/38438891/management-of-rotator-cuff-injuries-using-allogenic-platelet-rich-plasma
#28
JOURNAL ARTICLE
Ashim Gupta, Filippo Migliorini, Nicola Maffulli
Rotator cuff injuries are a major cause of shoulder pain, affecting the quality of life and producing a significant burden on healthcare systems. Conservative management modalities are prioritized, resorting to surgery only when required. The field of regenerative medicine involving the use of biologics, such as platelet-rich plasma (PRP), has evolved and shown potential for managing rotator cuff injuries. Nonetheless, limitations including subpar outcomes have led clinicians to question the efficacy of autologous PRP...
March 4, 2024: Journal of Orthopaedic Surgery and Research
https://read.qxmd.com/read/38435533/highly-enantioselective-catalysis-by-enzyme-encapsulated-in-metal-azolate-frameworks-with-micelle-controlled-pore-sizes
#29
JOURNAL ARTICLE
Hao Ren, Jian Yuan, Yi-Ming Li, Wen-Jing Li, Yi-Hang Guo, Yi-Bo Zhang, Bing-Hao Wang, Kaili Ma, Lu Peng, Guping Hu, Wen-Qi Wang, Hailong He, Lien-Yang Chou, Ming-Hua Zeng, Yue-Biao Zhang, Lin Cheng
Encapsulating enzymes within metal-organic frameworks has enhanced their structural stability and interface tunability for catalysis. However, the small apertures of the frameworks restrict their effectiveness to small organic molecules. Herein, we present a green strategy directed by visible linker micelles for the aqueous synthesis of MAF-6 that enables enzymes for the catalytic asymmetric synthesis of chiral molecules. Due to the large pore aperture (7.6 Å), double the aperture size of benchmark ZIF-8 (3...
February 28, 2024: ACS Central Science
https://read.qxmd.com/read/38427718/tgf-%C3%AE-specifies-t-fh-versus-t-h-17-cell-fates-in-murine-cd4-t-cells-through-c-maf
#30
JOURNAL ARTICLE
Yinshui Chang, Luisa Bach, Marko Hasiuk, Lifen Wen, Tarek Elmzzahi, Carlson Tsui, Nicolás Gutiérrez-Melo, Teresa Steffen, Daniel T Utzschneider, Timsse Raj, Paul Jonas Jost, Sylvia Heink, Jingyuan Cheng, Oliver T Burton, Julia Zeiträg, Dominik Alterauge, Frank Dahlström, Jennifer-Christin Becker, Melanie Kastl, Konstantinos Symeonidis, Martina van Uelft, Matthias Becker, Sarah Reschke, Stefan Krebs, Helmut Blum, Zeinab Abdullah, Katrin Paeschke, Caspar Ohnmacht, Christian Neumann, Adrian Liston, Felix Meissner, Thomas Korn, Jan Hasenauer, Vigo Heissmeyer, Marc Beyer, Axel Kallies, Lukas T Jeker, Dirk Baumjohann
T follicular helper (TFH ) cells are essential for effective antibody responses, but deciphering the intrinsic wiring of mouse TFH cells has long been hampered by the lack of a reliable protocol for their generation in vitro. We report that transforming growth factor-β (TGF-β) induces robust expression of TFH hallmark molecules CXCR5 and Bcl6 in activated mouse CD4+ T cells in vitro. TGF-β-induced mouse CXCR5+ TFH cells are phenotypically, transcriptionally, and functionally similar to in vivo-generated TFH cells and provide critical help to B cells...
March 2024: Science Immunology
https://read.qxmd.com/read/38409578/validation-of-sorghum-quality-control-qc-markers-across-african-breeding-lines
#31
JOURNAL ARTICLE
Davis M Gimode, Grace Ochieng, Santosh Deshpande, Eric O Manyasa, Clarisse P Kondombo, Erick O Mikwa, Millicent O Avosa, Josephine Sarah Kunguni, Kahiu Ngugi, Patrick Sheunda, McDonald Bright Jumbo, Damaris A Odeny
Sorghum [Sorghum bicolor (L.) Moench] is a cereal crop of critical importance in the semi-arid tropics, particularly in Africa where it is second only to maize (Zea mays L.) by area of cultivation. The International Crops Research Institute for the Semi-Arid Tropics sorghum breeding program for Eastern and Southern Africa is the largest in the region and develops improved varieties for target agro-ecologies. Varietal purity and correct confirmation of new crosses are essential for the integrity and efficiency of a breeding program...
February 26, 2024: Plant Genome
https://read.qxmd.com/read/38405973/brain-eqtls-of-european-african-american-and-asian-ancestry-improve-interpretation-of-schizophrenia-gwas
#32
Yu Chen, Sihan Liu, Zongyao Ren, Feiran Wang, Yi Jiang, Rujia Dai, Fangyuan Duan, Cong Han, Zhilin Ning, Yan Xia, Miao Li, Kai Yuan, Wenying Qiu, Xiao-Xin Yan, Jiapei Dai, Richard F Kopp, Jufang Huang, Shuhua Xu, Beisha Tang, Eric R Gamazon, Tim Bigdeli, Elliot Gershon, Hailiang Huang, Chao Ma, Chunyu Liu, Chao Chen
Research on brain expression quantitative trait loci (eQTLs) has illuminated the genetic underpinnings of schizophrenia (SCZ). Yet, the majority of these studies have been centered on European populations, leading to a constrained understanding of population diversities and disease risks. To address this gap, we examined genotype and RNA-seq data from African Americans (AA, n=158), Europeans (EUR, n=408), and East Asians (EAS, n=217). When comparing eQTLs between EUR and non-EUR populations, we observed concordant patterns of genetic regulatory effect, particularly in terms of the effect sizes of the eQTLs...
February 16, 2024: medRxiv
https://read.qxmd.com/read/38401466/p2rx7-gene-variants-associate-with-altered-inflammasome-assembly-and-reduced-pyroptosis-in-chronic-nonbacterial-osteomyelitis-cno
#33
JOURNAL ARTICLE
Amandine Charras, Sigrun R Hofmann, Allison Cox, Felix Schulze, Susanne Russ, Sarah Northey, Xuan Liu, Yongxiang Fang, Sam Haldenby, Hella Hartmann, Alexander G Bassuk, Ana Carvalho, Francesca Sposito, Lev Grinstein, Angela Rösen-Wolff, Almut Meyer-Bahlburg, Michael W Beresford, Elke Lainka, Dirk Föll, Helmut Wittkowski, Hermann J Girschick, Henner Morbach, Steffen Uebe, Ulrike Hüffmeier, Polly J Ferguson, Christian M Hedrich
Chronic nonbacterial osteomyelitis (CNO), an autoinflammatory bone disease primarily affecting children, can cause pain, hyperostosis and fractures, affecting quality-of-life and psychomotor development. This study investigated CNO-associated variants in P2RX7, encoding for the ATP-dependent trans-membrane K+ channel P2X7, and their effects on NLRP3 inflammasome assembly. Whole exome sequencing in two related transgenerational CNO patients, and target sequencing of P2RX7 in a large CNO cohort (N = 190) were conducted...
February 22, 2024: Journal of Autoimmunity
https://read.qxmd.com/read/38397457/childhood-maltreatment-and-immune-cell-gene-regulation-during-adolescence-transcriptomics-highlight-non-classical-monocytes
#34
JOURNAL ARTICLE
Kate R Kuhlman, Steve W Cole, Ece N Tan, James A Swanson, Uma Rao
Childhood maltreatment has been repeatedly linked to a higher incidence of health conditions with an underlying proinflammatory component, such as asthma, chronic obstructive pulmonary disease, stroke, and cardiovascular disease. Childhood maltreatment has also been linked to elevated systemic inflammation prior to the onset of disease. However, childhood maltreatment is highly comorbid with other risk factors which have also been linked to inflammation, namely major depression. The present analysis addresses this issue by assessing the association of maltreatment with genome-wide transcriptional profiling of immune cells collected from four orthogonal groups of adolescents (aged 13-17): maltreated and not maltreated in childhood, with and without major depressive disorder...
February 13, 2024: Biomolecules
https://read.qxmd.com/read/38396528/analysis-of-genetic-diversity-in-romanian-carpatina-goats-using-snp-genotyping-data
#35
JOURNAL ARTICLE
Bogdan Alin Vlaic, Augustin Vlaic, Isa-Rita Russo, Licia Colli, Michael William Bruford, Antonia Odagiu, Pablo Orozco-terWengel, Climgen Consortium
Animal husbandry is one of man's oldest occupations. It began with the domestication of animals and developed continuously, in parallel with the evolution of human society. The selection and improvement of goats in Romania was not a clearly defined objective until around 1980. In recent years, with the increasing economic value given to goats, breeding programs are becoming established. In Romania, a few goat genetic studies using microsatellites and mtDNA have been carried out; however, a systematic characterization of the country's goat genomic resources remains missing...
February 7, 2024: Animals: An Open Access Journal From MDPI
https://read.qxmd.com/read/38379902/-nudt15-and-tpmt-polymorphisms-in-three-distinct-native-populations-of-the-brazilian-amazon
#36
JOURNAL ARTICLE
Jamila Alessandra Perini, Paulo Cesar Basta, Guilherme Suarez-Kurtz
This is the first report of the distribution of TPMT and NUDT15 single nucleotide polymorphisms and metabolic phenotypes associated with cytotoxicity of thiopurine drugs, in indigenous groups of Brazilian Amazon: Munduruku, Paiter-Suruí and Yanomami. The minor allele frequency (MAF) of NUDT15 rs116855232 did not differ significantly across the groups; TPMT rs1800462 was absent, while rs1800460 and rs1142345 were in strong linkage disequilibrium, and 10- and 30-fold more common in Paiter-Suruí. Indeed, the MAFs in Paiter-Surui (0...
2024: Frontiers in Pharmacology
https://read.qxmd.com/read/38378604/high-somatic-mutations-in-circulating-tumor-dna-predict-response-of-metastatic-pancreatic-ductal-adenocarcinoma-to-first-line-nab-paclitaxel-plus-s-1-prospective-study
#37
JOURNAL ARTICLE
Lei Huang, Yao Lv, Shasha Guan, Huan Yan, Lu Han, Zhikuan Wang, Quanli Han, Guanghai Dai, Yan Shi
AIMS: We previously showed that the nab-paclitaxel plus S-1 (NPS) regimen had promising effects against metastatic pancreatic ducal adenocarcinoma (mPDAC), whose efficacy however could not be precisely predicted by routine biomarkers. This prospective study aimed to investigate the values of mutations in circulating tumor DNA (ctDNA) and their dynamic changes in predicting response of mPDAC to NPS chemotherapy. METHODS: Paired tumor tissue and blood samples were prospectively collected from patients with mPDAC receiving first-line NPS chemotherapy, and underwent next-generation sequencing with genomic profiling of 425 genes for ctDNA...
February 20, 2024: Journal of Translational Medicine
https://read.qxmd.com/read/38376718/all-epiphyseal-anterior-cruciate-ligament-reconstruction-yields-superior-sports-performances-than-the-trans-epiphyseal-technique-in-skeletally-immature-patients-a-systematic-review
#38
Filippo Migliorini, Marco Pilone, Michael Kurt Memminger, Jörg Eschweiler, Riccardo Giorgino, Nicola Maffulli
BACKGROUND: Anterior cruciate ligament (ACL) tears in skeletally immature patients are increasingly common. Evidence comparing the outcomes of all-epiphyseal versus trans-epiphyseal ACL reconstruction in skeletally immature patients is limited, and the current literature could benefit from a comprehensive systematic review. The present study compared all-epiphyseal versus trans-epiphyseal ACL reconstruction in skeletally immature patients. The outcomes of interest were to compare joint laxity, patient-reported outcome measures (PROMs), return to sport, and complications...
February 20, 2024: Journal of Orthopaedics and Traumatology: Official Journal of the Italian Society of Orthopaedics and Traumatology
https://read.qxmd.com/read/38372551/-not-available
#39
JOURNAL ARTICLE
Kawther Ben Abdelghani, Yasmine Makhlouf, Saoussen Miladi, Hiba Boussaa, Alia Fazaa, Ahmed Laatar
INTRODUCTION: Rheumatoid arthritis is a disabling disease leading to an impaired quality of life. To avoid joint damage, innovative strategies such "educational" medical procedures are developing, involving the patient in the management of his illness. AIM: The objective of our study was to assess the effectiveness of patient education (PE) program on quality of life and adherence in the short and medium term. METHODS: A prospective study including RA patients...
June 5, 2023: La Tunisie Médicale
https://read.qxmd.com/read/38371408/construction-of-snp-fingerprints-and-genetic-diversity-analysis-of-radish-raphanus-sativus-l
#40
JOURNAL ARTICLE
Xiaolin Xing, Tianhua Hu, Yikui Wang, Yan Li, Wuhong Wang, Haijiao Hu, Qingzhen Wei, Yaqin Yan, Defang Gan, Chonglai Bao, Jinglei Wang
Radish ( Raphanus sativus L.) is a vegetable crop with economic value and ecological significance in the genus Radish, family Brassicaceae . In recent years, developed countries have attached great importance to the collection and conservation of radish germplasm resources and their research and utilization, but the lack of population genetic information and molecular markers has hindered the development of the genetic breeding of radish. In this study, we integrated the radish genomic data published in databases for the development of single-nucleotide polymorphism (SNP) markers, and obtained a dataset of 308 high-quality SNPs under strict selection criteria...
2024: Frontiers in Plant Science
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