journal
https://read.qxmd.com/read/38633409/introducing-dynamic-consent-for-improved-trust-and-privacy-in-research-involving-human-biological-material-and-associated-data-in-south-africa
#1
JOURNAL ARTICLE
Larisse Prinsen
Biomedical research using human biological material and data is essential for improving human health, but it requires the active participation of many human volunteers in addition to the distribution of data. As a result, it has raised numerous vexing questions related to trust, privacy and consent. Trust is essential in biomedical research as it relates directly to the willingness of participants to continue participating in research. Privacy and the protection of personal information also influence trust...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38633408/editorial-regulation-of-fertility-in-livestock-species
#2
EDITORIAL
Hamayun Khan, Abdolrahman Khezri
No abstract text is available yet for this article.
2024: Frontiers in Genetics
https://read.qxmd.com/read/38633407/donor-whole-blood-dna-methylation-is-not-a-strong-predictor-of-acute-graft-versus-host-disease-in-unrelated-donor-allogeneic-haematopoietic-cell-transplantation
#3
JOURNAL ARTICLE
Amy P Webster, Simone Ecker, Ismail Moghul, Xiaohong Liu, Pawan Dhami, Sarah Marzi, Dirk S Paul, Michelle Kuxhausen, Stephanie J Lee, Stephen R Spellman, Tao Wang, Andrew Feber, Vardhman Rakyan, Karl S Peggs, Stephan Beck
Allogeneic hematopoietic cell transplantation (HCT) is used to treat many blood-based disorders and malignancies, however it can also result in serious adverse events, such as the development of acute graft-versus-host disease (aGVHD). This study aimed to develop a donor-specific epigenetic classifier to reduce incidence of aGVHD by improving donor selection. Genome-wide DNA methylation was assessed in a discovery cohort of 288 HCT donors selected based on recipient aGVHD outcome; this cohort consisted of 144 cases with aGVHD grades III-IV and 144 controls with no aGVHD...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38633406/neuronal-specific-methylome-and-hydroxymethylome-analysis-reveal-significant-loci-associated-with-alcohol-use-disorder
#4
JOURNAL ARTICLE
Diego E Andrade-Brito, Diana L Núñez-Ríos, José Jaime Martínez-Magaña, Sheila T Nagamatsu, Gregory Rompala, Lea Zillich, Stephanie H Witt, Shaunna L Clark, Maria C Lattig, Janitza L Montalvo-Ortiz
Background: Alcohol use disorder (AUD) is a complex condition associated with adverse health consequences that affect millions of individuals worldwide. Epigenetic modifications, including DNA methylation (5 mC), have been associated with AUD and other alcohol-related traits. Epigenome-wide association studies (EWAS) have identified differentially methylated genes associated with AUD in human peripheral and brain tissue. More recently, epigenetic studies of AUD have also evaluated DNA hydroxymethylation (5 hmC) in the human brain...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38633405/editorial-molecular-targets-for-anticancer-drug-discovery-and-development
#5
EDITORIAL
Monde Ntwasa, Zodwa Dlamini
No abstract text is available yet for this article.
2024: Frontiers in Genetics
https://read.qxmd.com/read/38633404/editorial-epigenetic-and-genetic-mechanisms-underlying-cardiovascular-diseases-and-neurodevelopmental-disorders
#6
EDITORIAL
Peng Zhang, Lingshan Gou, Dharmani Devi Murugan, Hongsong Zhang
No abstract text is available yet for this article.
2024: Frontiers in Genetics
https://read.qxmd.com/read/38628577/case-report-intellectual-disability-and-borderline-intellectual-functioning-in-two-sisters-with-a-12p11-22-loss
#7
Haemi Choi, Jeong-A Kim, Kyung-Ok Cho, Hyun Jung Kim, Min-Hyeon Park
Multiple genome sequencing studies have identified genetic abnormalities as major causes of severe intellectual disability (ID). However, many children affected by mild ID and borderline intellectual functioning (BIF) lack a genetic diagnosis because known causative ID genetic mutations have not been identified or the role of genetic variants in mild cases is less understood. Genetic variant testing in mild cases is necessary to provide information on prognosis and risk of occurrence. In this study, we report two sibling patients who were 5 years 9 months old and 3 years 3 months old and presented to the hospital due to developmental delay...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38628576/chloroplast-genomes-in-seven-lagerstroemia-species-provide-new-insights-into-molecular-evolution-of-photosynthesis-genes
#8
JOURNAL ARTICLE
Ling He, Sujuan Xu, Xinnian Cheng, Hanlin Huang, Hongyu Dai, Xin Wang, Zhiyang Ding, Ming Xu, Haoran Gu, Na Yan, Chunyan Wang
Lagerstroemia indica is an important commercial tree known for the ornamental value. In this study, the complete chloroplast genome sequence of Lagerstroemia indica "Pink Velour" ( Lagerstroemia "Pink Velour") was 152,174 bp in length with a GC content of 39.50%. It contained 85 protein coding genes (PCGs), 37 tRNAs, and 8 rRNA genes. 207 simple sequence repeats (SSRs) and 31 codons with relative synonymous codon (RSCU)value > 1 were detected. Phylogenetic analysis divided 10 Lagerstroemia species into evolutionary branches of clade A and clade B...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38606359/comparison-of-ddradseq-and-euchip60k-snp-genotyping-systems-for-population-genetics-and-genomic-selection-in-eucalyptus-dunnii-maiden
#9
JOURNAL ARTICLE
Natalia Cristina Aguirre, Pamela Victoria Villalba, Martín Nahuel García, Carla Valeria Filippi, Juan Gabriel Rivas, María Carolina Martínez, Cintia Vanesa Acuña, Augusto J López, Juan Adolfo López, Pablo Pathauer, Dino Palazzini, Leonel Harrand, Javier Oberschelp, Martín Alberto Marcó, Esteban Felipe Cisneros, Rocío Carreras, Ana Maria Martins Alves, José Carlos Rodrigues, H Esteban Hopp, Dario Grattapaglia, Eduardo Pablo Cappa, Norma Beatriz Paniego, Susana Noemí Marcucci Poltri
Eucalyptus dunnii is one of the most important Eucalyptus species for short-fiber pulp production in regions where other species of the genus are affected by poor soil and climatic conditions. In this context, E. dunnii holds promise as a resource to address and adapt to the challenges of climate change. Despite its rapid growth and favorable wood properties for solid wood products, the advancement of its improvement remains in its early stages. In this work, we evaluated the performance of two single nucleotide polymorphism, (SNP), genotyping methods for population genetics analysis and Genomic Selection in E...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38606358/endogenous-retroviral-solo-ltrs-in-human-genome
#10
REVIEW
Mingyue Chen, Xiaolong Huang, Chunlei Wang, Shibo Wang, Lei Jia, Lin Li
Human endogenous retroviruses (HERVs) are derived from the infection and integration of exogenetic retroviruses. HERVs account for 8% of human genome, and the majority of HERVs are solitary LTRs (solo-LTRs) due to homologous recombination. Multiple findings have showed that solo-LTRs could provide an enormous reservoir of transcriptional regulatory sequences involved in diverse biological processes, especially carcinogenesis and cancer development. The link between solo-LTRs and human diseases still remains poorly understood...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38606357/review-of-childhood-genetic-nephrolithiasis-and-nephrocalcinosis
#11
REVIEW
Ashley M Gefen, Joshua J Zaritsky
Nephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and economic burden. The etiology of NL and NC is multifactorial and includes both environmental components and genetic components, with multiple studies showing high heritability. Causative gene variants have been detected in up to 32% of children with NL and NC. Children with NL and NC are genotypically heterogenous, but often phenotypically relatively homogenous, and there are subsequently little data on the predictors of genetic childhood NL and NC...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38606356/effect-of-a-probiotic-and-an-antibiotic-on-the-mobilome-of-the-porcine-microbiota
#12
JOURNAL ARTICLE
Xavier C Monger, Linda Saucier, Frédéric Guay, Annie Turcotte, Joanie Lemieux, Eric Pouliot, Sylvain Fournaise, Antony T Vincent
Introduction: To consider the growing health issues caused by antibiotic resistance from a "one health" perspective, the contribution of meat production needs to be addressed. While antibiotic resistance is naturally present in microbial communities, the treatment of farm animals with antibiotics causes an increase in antibiotic resistance genes (ARG) in the gut microbiome. Pigs are among the most prevalent animals in agriculture; therefore, reducing the prevalence of antibiotic-resistant bacteria in the pig gut microbiome could reduce the spread of antibiotic resistance...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38606355/evaluating-cardiovascular-disease-risk-stratification-using-multiple-polygenic-risk-scores-and-pooled-cohort-equations-insights-from-a-17-year-longitudinal-korean-cohort-study
#13
JOURNAL ARTICLE
Yi Seul Park, Hye-Mi Jang, Ji Hye Park, Bong-Jo Kim, Hyun-Young Park, Young Jin Kim
Cardiovascular disease (CVD) remains the leading cause of mortality worldwide, caused by a complex interplay of genetic and environmental factors. This study aimed to evaluate the combined efficacy of multi-polygenic risk scores and pooled cohort equations (PCE) for predicting future CVD risks in the Korean population. In this longitudinal study, 7,612 individuals from the Ansan and Ansung cohorts were analyzed over a 17-year follow-up period. The participants were genotyped using the Korea Biobank Array, and quality-controlled genetic data were subjected to imputation analysis...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38601076/the-prognostic-significance-of-lncrna-blacat1-overexpression-in-various-tumors-a-meta-analysis
#14
Xuefen Yan, Nana Zhang, Gang Wang, Jiaheng Wang
OBJECTIVE: Recent studies have revealed increasing evidence that the long non-coding RNA bladder cancer associated transcript 1 (LncRNA BLACAT1) plays an essential role in the emergence of different malignancies. This meta-analysis aimed to evaluate the prognostic significance of LncRNA BLACAT1 in various cancers. METHODS: Six electronic databases (PubMed, Embase, Medline, Web of Science, China National Knowledge Infrastructure (CNKI), and the Chinese WanFang database) were comprehensively searched for relevant studies...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38601075/the-genetic-architecture-of-complete-blood-counts-in-lactating-holstein-dairy-cows
#15
JOURNAL ARTICLE
Cori J Siberski-Cooper, Mary S Mayes, Patrick J Gorden, Luke Kramer, Vishesh Bhatia, James E Koltes
Complete blood counts (CBCs) measure the abundance of individual immune cells, red blood cells, and related measures such as platelets in circulating blood. These measures can indicate the health status of an animal; thus, baseline circulating levels in a healthy animal may be related to the productive life, resilience, and production efficiency of cattle. The objective of this study is to determine the heritability of CBC traits and identify genomic regions that are associated with CBC measurements in lactating Holstein dairy cattle...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38601074/functional-analysis-of-rras2-pathogenic-variants-with-a-noonan-like-phenotype
#16
JOURNAL ARTICLE
Takaya Iida, Arisa Igarashi, Kae Fukunaga, Taiga Aoki, Tomomi Hidai, Kumiko Yanagi, Masahiko Yamamori, Kazuhito Satou, Hayato Go, Tomoki Kosho, Ryuto Maki, Takashi Suzuki, Yohei Nitta, Atsushi Sugie, Yoichi Asaoka, Makoto Furutani-Seiki, Tetsuaki Kimura, Yoichi Matsubara, Tadashi Kaname
Introduction: RRAS2, a member of the R-Ras subfamily of Ras-like low-molecular-weight GTPases, is considered to regulate cell proliferation and differentiation via the RAS/MAPK signaling pathway. Seven RRAS2 pathogenic variants have been reported in patients with Noonan syndrome; however, few functional analyses have been conducted. Herein, we report two patients who presented with a Noonan-like phenotype with recurrent and novel RRAS2 pathogenic variants (p.Gly23Val and p.Gly24Glu, respectively) and the results of their functional analysis...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38601073/causal-association-of-gastroesophageal-reflux-disease-on-irritable-bowel-syndrome-a-two-sample-mendelian-randomization-study
#17
JOURNAL ARTICLE
Huihuan Wu, Jingwei Li, FeiFei Li, Weijian Lun
BACKGROUND: Recently, observational studies have reported that gastroesophageal reflux disease (GERD) is commonly associated with irritable bowel syndrome (IBS), but the causal relationship is unclear. METHODS: We conducted a two-sample Mendelian randomization study using summary data from genome-wide association studies (GWASs) to explore a causal relationship between GERD (N cases = 129,080) and IBS (N cases = 4,605) of European ancestry. Furthermore, the inverse-variance weighted (IVW) method and a series of sensitivity analyses were used to assess the accuracy and confidence of our results...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38596214/unveiling-the-role-of-trna-derived-small-rnas-in-mapk-signaling-pathway-implications-for-cancer-and-beyond
#18
REVIEW
Qurui Wang, Qinyuan Huang, Xiaowei Ying, Jinze Shen, Shiwei Duan
tRNA-derived small RNAs (tsRNAs) are novel small non-coding RNAs originating from mature or precursor tRNAs (pre-tRNA), typically spanning 14 to 30 nt. The Mitogen-activated protein kinases (MAPK) pathway orchestrates cellular responses, influencing proliferation, differentiation, apoptosis, and transformation. tsRNAs influence the expression of the MAPK signaling pathway by targeting specific proteins within the pathway. Presently, four MAPK-linked tsRNAs have implications in gastric cancer (GC) and high-grade serous ovarian cancer (HGSOC)...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38596213/causal-relationships-between-mitochondrial-proteins-and-different-pathological-types-of-lung-cancer-a-bidirectional-mendelian-randomization-study
#19
JOURNAL ARTICLE
Tanao Ji, Yue Lv, Meiqun Liu, Yujie Han, Baochang Yuan, Jun Gu
An increasing number of studies point to an association between mitochondrial proteins (MPs) and lung cancer (LC). However, the causal relationship between MPs and LC remains unclear. Consequently, our study employed a bidirectional Mendelian randomization (MR) analysis to explore the causal association between MPs and different pathological types of LC. A two-sample MR study was performed using the genome-wide association study (GWAS) data publicly available. We applied the primary inverse variance weighted (IVW) method along with additional MR methods to validate the causality between MPs and different pathological types of LC...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38596212/the-complex-landscape-of-dmd-mutations-moving-towards-personalized-medicine
#20
REVIEW
Francesca Gatto, Silvia Benemei, Giulio Piluso, Luca Bello
Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration, with respiratory and cardiac complications, caused by mutations in the DMD gene, encoding the protein dystrophin. Various DMD mutations result in different phenotypes and disease severity. Understanding genotype/phenotype correlations is essential to optimize clinical care, as mutation-specific therapies and innovative therapeutic approaches are becoming available. Disease modifier genes, trans-active variants influencing disease severity and phenotypic expressivity, may modulate the response to therapy, and become new therapeutic targets...
2024: Frontiers in Genetics
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