Genetic diversity and evolutionary insights of Dali tea (Camellia taliensis) in the Lancang River Basin: Implications for tea breeding and resource conservation. by Yanlan Tao, Lichao Huang, Hongyu Chen, Yiju Luo, Rong Tang, Faying Li, Zengquan Lan

“…The Lincang Daxueshan wild population showed a low minor allele frequency (MAF = 0.204) and a mild inbreeding coefficient (Fis = 0.09), indicating a potential risk of genetic erosion. …”
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Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms by Yun Soo Hong, Sergiu Pasca, Wen Shi, Daniela Puiu, Nicole J. Lake, Monkol Lek, Meng Ru, Megan L. Grove, Anna Prizment, Corinne E. Joshu, Elizabeth A. Platz, Eliseo Guallar, Dan E. Arking, Lukasz P. Gondek

“…We find that heteroplasmy is more common in individuals with clonal hematopoiesis of indeterminate potential, particularly those with higher variant allele fractions, multiple mutations, or spliceosome machinery mutations. …”
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The importance of dopamine levels and single-nucleotide polymorphism within COMT, DRD1 and DRD2 genes in obstructive sleep apnoea by Joanna Smardz, Helena Martynowicz, Marta Dratwa-Kuzmin, Anna Wojakowska, Pawel Gac, Katarzyna Bogunia-Kubik, Mieszko Wieckiewicz

“…Genotypic analysis identified the DRD2 rs1800497 T allele as a potential independent predictor of OSA severity (p = 0.011), hypopnea (p = 0.005) and arousals (p = 0.024).Conclusions This study advances the understanding of OSA by identifying elevated dopamine levels and genetic variations in DRD2 rs1800497 as potential modulators of its occurrence and severity. …”
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Significance of immune factors in Crohn's disease development by D. S. Stavtsev, T. A. Astrelina, O. V. Knyazev, T. V. Pukhlikova

“…Hence, scientists of USA, Canada, Spain, Finland confirmed association of HLA-DRB1*0103 allele with development of CD, as well as with course of inflammatory bowel diseases and their complications. …”
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Assessment of line differentiation in the Thoroughbred horse breed using DNA microsatellite loci by L. A. Khrabrova, N. V. Blohina, O. I. Suleymanov, G. А. Rozhdestvenskaya, V. F. Pustovoy

“…The results of the DNA typing of 8091 Thoroughbred horses across microsatellite loci show that the gene pool of the domestic population is represented by 100 alleles typical of the breed. A comparative analysis of the genotypes of horses representing different lines indicates that they differ in the number of alleles (85–99), allele frequencies, the level of polymorphism Ae (2.93–3.48) and the degree of the observed heterozygosity Ho (0.653–0.739). …”
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The relationship between the genetic status of the Vrn-1 locus and the size of the root system in bread wheat (Triticum aestivum L.) by O. G. Smirnova, T. A. Pshenichnikova

“…The aim of this work was to determine whether the allelic composition of the genes at the Vrn-1 locus affects the root size in seven spring cultivars and in two lines of bread wheat differing in flowering time under conditions of normal watering and drought. …”
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HUWE1 is involved in Sertoli cell polarity establishment by ubiquitination mediated degradation of WT1 by Bowen Liu, Mengyue Wang, Changhuo Cen, Zhiming Shen, Jiayi Li, Xiuhong Cui, Xudong Zhao, Min Chen, Fei Gao

“…Furthermore, the defect of spermatogenesis in Huwe1 CKO mice was partially rescued by deleting one allele of Wt1 gene. Mechanistic studies revealed that WT1 interacts with HUWE1 protein and it could be ubiquitinated by HUWE1. …”
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HLA-B*58:01 genotyping prevalence and the association with allopurinol-induced severe cutaneous adverse reactions: a living systematic review and meta-analysis by Hong Tham Pham, Manh Hung Tran, Thuy-Van Mai Hoang, Ai-Hoc Nguyen, Minh-Hoang Tran

“…There is evidence to confirm a strong association between this allele and allopurinol-induced SCARs.…”
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Introgressions of Vitis rotundifolia Michx. to obtain grapevine genotypes with complex resistance to biotic and abiotic stresses by V. A. Volynkin, V. V. Likhovskoi, I. A. Vasylyk, N. A. Rybachenko, E. A. Lushchay, S. M. Gorislavets, V. A. Volodin, V. I. Risovannaya, E. K. Potokina

“…As a result, almost all recombinant genotypes that received a resistant allele from the paternal genome are highly resistant to powdery mildew.…”
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Target sequence of single cells captured by a polymeric microfluidic device by Rintaro Oyama, Masataka Mori, Hiroki Matsumiya, Yukiko Nemoto, Natsumasa Nishizawa, Yohei Honda, Masatoshi Kanayama, Akihiro Taira, Taiji Kuwata, Masaru Takenaka, Koji Kuroda, Kazue Yoneda, Takashi Ohnaga, Motoyoshi Endo, Fumihiro Tanaka

“…Our method demonstrated a sensitivity of 99.4%, specificity of 99.5%, and area under the curve of 1 (allele frequency cut-off, 18%). Our approach suggests that single cells captured in a microfluidic device are sufficient for genetic mutation analysis.…”
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Development and implementation of nested single‐nucleotide polymorphism (SNP) assays for breeding and genetic research applications by Qijian Song, Charles Quigley, Ruifeng He, Dechun Wang, Henry Nguyen, Carrie Miranda, Zenglu Li

“…They are highly polymorphic and of high quality. The mean minor allele frequencies of the SNPs in the southern and northern US elites were 0.25 and 0.27 for SoySNP3K, respectively, and 0.29 and 0.33 for SoySNP1K. …”
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Brief Report: Prospective Trial of Pembrolizumab Monotherapy in Metastatic NSCLC Evaluating Circulating Tumor DNA as a Surrogate Biomarker of Response by Iris van 't Erve, PhD, Isabelle Blanchard, BS, Judy Y. Pagtama, MSN, Alison J. Holmes Tisch, MSN, Ash A. Alizadeh, MD, PhD, Kavitha Ramchandran, MD, Heather A. Wakelee, MD, Sukhmani K. Padda, MD, Maximilian Diehn, MD, PhD, Joel W. Neal, MD, PhD

“…On-treatment ctDNA response, defined as at least a threefold ctDNA variant allele frequency decrease after three cycles of pembrolizumab versus baseline, was able to predict with 100%, 66%, and 100% accuracy partial response, stable disease, and progressive disease radiologic response, respectively. …”
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Increased cerebrospinal fluid and plasma apoE glycosylation is associated with reduced levels of Alzheimer’s disease biomarkers by Dobrin Nedelkov, Zoe E. Tsokolas, Matheus Scarpatto Rodrigues, Isabel Sible, S. Duke Han, Bilal E. Kerman, Michael Renteln, Wendy J. Mack, Tharick A. Pascoal, Hussein N. Yassine, the Alzheimer’s Disease Neuroimaging Initiative

“…Abstract The apolipoprotein E (APOE) ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease (AD). …”
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The APOE Gene Cluster in Normal Aging by Jolanta Florczak-Wyspiańska, Mikołaj Hurła, Damian Pikor, Joanna Poszwa, Izabela Korczowska-Łącka, Oliwia Szymanowicz, Agnieszka Pluto-Prądzyńska, Ulyana Goutor, Małgorzata Wiszniewska, Wojciech Kozubski, Jolanta Dorszewska

“…However, the pathological implications of APOE genetic variants, particularly the ε4 allele, were considered in relation to the increased risk of AD and other age-related diseases. …”
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The effect of Polymorphism of the MDR1 (ABCB1) Gene on the Risk of Hepatotoxic Reactions in Patients with Pulmonary Tuberculosis by М. А. Alymenko, R. Sh. Valiev, N. R. Valiev, I. N. Tragira, А. V. Polonikov, N. Р. Balobanova, A. V. Batishchev, V. М. Kolomiets, G. S. Mal, S. N. Volkova, V. V. Kozlov, E. I. Suslikova, E. V. Popova

“…Results: 1 statistically significant model was obtained, which reflects the association with hepatotoxic reactions to anti-tuberculosis drugs of the TS genotypes or the TS gene (T allele) ABSV1 (rs1045642). Conclusion. Pharmacogenetic testing used in the study allows us to identify risk groups of patients with pulmonary tuberculosis according to the likelihood of hepatotoxic reactions, which may provide an individualized approach to the treatment of these patients in the future.…”
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Genomic‐wide analysis reveals seven in absentia genes regulating grain development in wheat (Triticum aestivum L.) by Tao Chen, Yongping Miao, Fanli Jing, Weidong Gao, Yanyan Zhang, Long Zhang, Peipei Zhang, Lijian Guo, Delong Yang

“…The genomic polymorphism analysis revealed that at least 62 TaSINA genes had different haplotypes, where the haplotypes of five genes were significantly correlated with grain‐related traits. Kompetitive allele‐specific PCR markers were developed to confirm the single nucleotide polymorphisms in TaSINA101 and TaSINA109 among the five selected genes in a set of 292 wheat accessions. …”
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LEVEL OF CHROMOSOMAL ABERRATIONS, ACTIVE RIBOSOMAL GENES DOSE AND POLYMORPHISM OF DNA REPAIR GENES IN MINERS OF THE KEMEROVO REGION by Анна Александровна Тимофеева, Варвара Ивановна Минина, Ольга Александровна Соболева, Анастасия Владимировна Рыжкова, Яна Александровна Савченко, Марина Леонидовна Баканова, Татьяна Александровна Головина, Андрей Николаевич Глушков

“…Increased frequency of chromosome exchanges in workers with a minor T-allele of XRCC3 gene, and in holders of heterozygous GA genotype of XRCC2 with a low dose of active ribosomal genes. …”
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Studying the role of GCLC gene polymorphisms in predicting the clinical course of acute alcoholic pancreatitis by T. A. Samgina

“…The rs761142 A/A genotype in the GCLC gene (OR = 1.70, 95% CI 1.12–2.59; р = 0.010) showed predisposition to acute peripancreatic fluid сollection, and the rs648595 G allele (OR = 1.47, 95% CI 1.01–2.13; р = 0.042) in the GCLC gene exhibited predisposition to the formation of acute pancreatic pseudocysts. …”
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Evaluation of polymorphism in BCL-2, PD-1, and PD-L1 genes in myelodysplastic neoplasms by Bartłomiej Kuszczak, Piotr Łacina, Marta Dratwa-Kuźmin, Katarzyna Bogunia-Kubik, Tomasz Wróbel, Justyna Rybka

“…The analysis revealed that the BCL2 rs1564483 G allele is associated with better overall survival compared to patients with the BCL2 rs1564483 AA genotype (p = 0.037), and is more common in patients who achieve complete remission (CR) or partial remission (PR) after first-line treatment (regardless of the therapy used) (p = 0.021).…”
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Bioinformatics mining and experimental validation of prognostic biomarkers in colorectal cancer by Feng Huang, Salah A. Alshehade, Wei Guo Zhao, Zhuo Ya Li, Jung Yin Fong, Chin Tat Ng, Li Chen, Sasikala Chinnappan, Mohammed Abdullah Alshawsh, Karthikkumar Venkatachalam, Malarvili Selvaraja

“…Mutational profiling showed predominant missense mutations across signature genes, with TIMP1 exhibiting the highest variant allele frequency. Functional enrichment analysis linked TIMP1 to critical CRC pathways including type I interferon receptor binding, oxidative phosphorylation, and Notch signaling pathways. …”
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