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JOURNAL ARTICLE
Manimurugan Kanagavel, Rajan Marystella Sparjan Samuvel, Vaikundamoorthy Ramalingam, Sunil Kumar Nechipadappu
This study aimed to repurpose the antifungal drug flucytosine (FCN) for anticancer activity together with cocrystals of nutraceutical coformers sinapic acid (SNP) and syringic acid (SYA). The cocrystal screening experiments with SNP resulted in three cocrystal hydrate forms in which two are polymorphs, namely, FCN-SNP F-I and FCN-SNP F-II, and the third one with different stoichiometry in the asymmetric unit (1:2:1 ratio of FCN:SNP:H2 O, FCN-SNP F-III). Cocrystallization with SYA resulted in two hydrated cocrystal polymorphs, namely, FCN-SYA F-I and FCN-SYA F-II...
April 22, 2024: Molecular Pharmaceutics
#2
Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K Ramanan, John Kornak, Carly Mester, Tyler Kolander, Danielle Brushaber, Adam M Staffaroni, Daniel Geschwind, Amy Wolf, Kejal Kantarci, Tania F Gendron, Leonard Petrucelli, Marleen Van den Broeck, Sarah Wynants, Matthew C Baker, Sergi Borrego-Écija, Brian Appleby, Sami Barmada, Andrea Bozoki, David Clark, R Ryan Darby, Bradford C Dickerson, Kimiko Domoto-Reilly, Julie A Fields, Douglas R Galasko, Nupur Ghoshal, Neill Graff-Radford, Ian M Grant, Lawrence S Honig, Ging-Yuek Robin Hsiung, Edward D Huey, David Irwin, David S Knopman, Justin Y Kwan, Gabriel C Léger, Irene Litvan, Joseph C Masdeu, Mario F Mendez, Chiadi Onyike, Belen Pascual, Peter Pressman, Aaron Ritter, Erik D Roberson, Allison Snyder, Anna Campbell Sullivan, M Carmela Tartaglia, Dylan Wint, Hilary W Heuer, Leah K Forsberg, Adam L Boxer, Howard J Rosen, Bradley F Boeve, Rosa Rademakers
BACKGROUND AND OBJECTIVES: TMEM106B has been proposed as a modifier of disease risk in FTLD-TDP, particularly in GRN mutation carriers. Furthermore, TMEM106B has been investigated as a disease modifier in the context of healthy aging and across multiple neurodegenerative diseases. The objective of this study is to evaluate and compare the effect of TMEM106B on gray matter volume and cognition in each of the common genetic FTD groups and in sporadic FTD patients. METHODS: Participants were enrolled through the ARTFL/LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) study, which includes symptomatic and presymptomatic individuals with a pathogenic mutation in C9orf72, GRN, MAPT, VCP, TBK1, TARDBP, symptomatic non-mutation carriers, and non-carrier family controls...
April 5, 2024: medRxiv
#3
JOURNAL ARTICLE
Lyne Touchette, Julie Godbout, Manuel Lamothe, Ilga Porth, Nathalie Isabel
Arctic and subarctic ecosystems are rapidly transforming due to global warming, emphasizing the need to understand the genetic diversity and adaptive strategies of northern plant species for effective conservation. This study focuses on Betula glandulosa , a native North American tundra shrub known as dwarf birch, which demonstrates an apparent capacity to adapt to changing climate conditions. To address the taxonomic challenges associated with shrub birches and logistical complexities of sampling in the northernmost areas where species' ranges overlap, we adopted a multicriteria approach...
April 2024: Evolutionary Applications
#4
JOURNAL ARTICLE
Haris Jan, Najeeb Ullah Khan, Ayman M Al-Qaaneh, Munazzah Tasleem, Mikhlid H Almutairi, Ijaz Ali
BACKGROUND/AIMS: The main focus of this investigation is to identify deleterious single nucleotide polymorphisms (SNPs) located in the BRCA2 gene through in silico approach, thereby,providing an understanding of potential consequences regarding the susceptibility to breast cancer. METHODS: The GenomAD database was used to identify SNPs. To determine the potential adverse consequences, our study employed various prediction tools, including SIFT, PolyPhen, PredictSNP, SNAP2, PhD-SNP, and ClinVar...
March 24, 2024: Cellular Physiology and Biochemistry
#5
JOURNAL ARTICLE
Jingyuan Gao, Yuqiong Yang, Xiaopeng Xiang, Huimin Zheng, Xinzhu Yi, Fengyan Wang, Zhenyu Liang, Dandan Chen, Weijuan Shi, Lingwei Wang, Di Wu, Shengchuan Feng, Qiaoyun Huang, Xueping Li, Wensheng Shu, Rongchang Chen, Nanshan Zhong, Zhang Wang
Little is known about the relationships between human genetics and the airway microbiome. Deeply sequenced airway metagenomics, by simultaneously characterizing the microbiome and host genetics, provide a unique opportunity to assess the microbiome-host genetic associations. Here we performed a co-profiling of microbiome and host genetics with the identification of over 5 million single nucleotide polymorphisms (SNPs) through deep metagenomic sequencing in sputum of 99 chronic obstructive pulmonary disease (COPD) and 36 healthy individuals...
April 16, 2024: Respiratory Research
#6
JOURNAL ARTICLE
Laxmi, Pougang Golmei, Shriyansh Srivastava, Sachin Kumar
Primary hypertension is a multiplex and multifactorial disease influenced by various strong components including genetics. Extensive research such as Genome-wide association studies and candidate gene studies have revealed various single nucleotide polymorphisms (SNPs) related to hypertension, providing insights into the genetic basis of the condition. This review summarizes the current status of SNP research in primary hypertension, including examples of hypertension-related SNPs, their location, function, and frequency in different populations...
April 13, 2024: European Journal of Pharmacology
#7
JOURNAL ARTICLE
Kun Tu, Wenhui Zhou, Shubing Kong
Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disorder. Its etiology may be associated with genetic, environmental, and lifestyle factors. With the advancement of technology, the integration of genomics, transcriptomics, and imaging data related to AD allows simultaneous exploration of molecular information at different levels and their interaction within the organism. This paper proposes a hypergraph-regularized joint deep semi-non-negative matrix factorization (HR-JDSNMF) algorithm to integrate positron emission tomography (PET), single-nucleotide polymorphism (SNP), and gene expression data for AD...
April 15, 2024: Journal of Molecular Neuroscience: MN
#8
REVIEW
Maël Baudin, Marie Le Naour-Vernet, Pierre Gladieux, Didier Tharreau, Marc-Henri Lebrun, Karine Lambou, Marie Leys, Elisabeth Fournier, Stella Césari, Thomas Kroj
UNLABELLED: Pyricularia oryzae (syn. Magnaporthe oryzae), is a filamentous ascomycete that causes a major disease called blast on cereal crops, as well as on a wide variety of wild and cultivated grasses. Blast diseases have a tremendous impact worldwide particularly on rice and on wheat, where the disease emerged in South America in the 1980s, before spreading to Asia and Africa. Its economic importance, coupled with its amenability to molecular and genetic manipulation, have inspired extensive research efforts aiming at understanding its biology and evolution...
April 2024: Molecular Plant Pathology
#9
JOURNAL ARTICLE
Songlin Yang, Shudan Xue, Li Shan, Shanshan Fan, Lei Sun, Yuming Dong, Sen Li, Yiming Gao, Yu Qi, Lin Yang, Menghang An, Fang Wang, Jin'an Pang, Wenzhu Zhang, Yiqun Weng, Xingwang Liu, Huazhong Ren
The multicellular trichomes of cucumber (Cucumis sativus L.) serve as the primary defense barrier against external factors, whose impact extends beyond plant growth and development to include commercial characteristics of fruits. The aphid (Aphis gossypii Glover) is one of prominent pests in cucumber cultivation. However, the relationship between physical properties of trichomes and the aphid resistance at molecular level remains largely unexplored. Here, a spontaneous mutant trichome morphology (tm) was characterized by increased susceptibility towards aphid...
April 10, 2024: Journal of Advanced Research
#10
JOURNAL ARTICLE
Chuang Wu, Huihuang Zhu, Yang Zhang, Li Ding, Junqi Wang
Metabolic reprogramming has been defined as a hallmark of malignancies. Prior studies have focused on the single nucleotide polymorphism (SNP) of POLG2 gene, which is reportedly responsible for encoding mitochondrial DNA genes and is implicated in the material and energy metabolism of tumor cells, whereas its function in prostate cancer has been elusive. Gene expression profile matrix and clinical information were downloaded from TCGA (The Cancer Genome Atlas) data portal, and GSE3325 and GSE8511 were retrieved from GEO (Gene Expression Omnibus) database...
2024: PloS One
#11
JOURNAL ARTICLE
Lara J Brindisi, Robert Mattera, Sonika Mudiyala, Joshua Honig, James E Simon
Chilling sensitivity is one of the greatest challenges affecting the marketability and profitability of sweet basil (Ocimum basilicum L.) in the US and worldwide. Currently, there are no sweet basils commercially available with significant chilling tolerance and traditional aroma profiles. This study was conducted to identify quantitative trait loci (QTLs) responsible for chilling tolerance and aroma compounds in a biparental mapping population, including the Rutgers advanced breeding line that served as a chilling tolerant parent, 'CB15', the chilling sensitive parent, 'Rutgers Obsession DMR' and 200 F2 individuals...
2024: PloS One
#12
JOURNAL ARTICLE
Zil E Rubab, Sumaira Naz, Mussarat Ashraf, Saba Shahid, Rehana Rehman
INTRODUCTION: The prevalence of female infertility in Pakistan is currently estimated at 22%, and emerging research suggests that vitamin D (VD) deficiency (VDD) may play a significant role in influencing female fertility. The focus of this study was to investigate the single nucleotide polymorphism (SNP) patterns within the VD binding protein (VDBP). The study aimed to explore dysregulated pathways and gene enrichment through an interaction network analysis, specifically focusing on the interplay between the VD receptor (VDR) and VDBP in females experiencing unexplained infertility (UI) coupled with VDD...
March 2024: Curēus
#13
JOURNAL ARTICLE
Zhen Yu Liao, Shuo Yang, Song Hu, Jia Liu, Yong Jun Mao, Shu Qin Sun
OBJECTIVE: This study aimed to explore the association of single nucleotide polymorphisms (SNP) in the matrix metalloproteinase 2 (MMP-2) signaling pathway and the risk of vascular senescence (VS). METHODS: In this cross-sectional study, between May and November 2022, peripheral venous blood of 151 VS patients (case group) and 233 volunteers (control group) were collected. Fourteen SNPs were identified in five genes encoding the components of the MMP-2 signaling pathway, assessed through carotid-femoral pulse wave velocity (cfPWV), and analyzed using multivariate logistic regression...
February 20, 2024: Biomedical and Environmental Sciences: BES
#14
JOURNAL ARTICLE
Jennifer Richter, Jorge Hidalgo, Fernando Bussiman, Vivian Breen, Ignacy Misztal, Daniela Lourenco
Accurate genetic parameters are crucial for predicting breeding values and selection responses in breeding programs. Genetic parameters change with selection, reducing additive genetic variance and changing genetic correlations. This study investigates the dynamic changes in genetic parameters for residual feed intake (RFI), gain (GAIN), breast percentage (BP), and femoral head necrosis (FHN) in a broiler population that undergoes selection, both with and without the use of genomic information. Changes in SNP effects were also investigated when including genomic information...
April 5, 2024: Journal of Animal Science
#15
JOURNAL ARTICLE
Minjie Guo, Li Deng, Jianzhong Gu, Jianli Miao, Junhua Yin, Yang Li, Yuanjin Fang, Bingyan Huang, Ziqi Sun, Feiyan Qi, Wenzhao Dong, Zhenhua Lu, Shaowei Li, Junping Hu, Xinyou Zhang, Li Ren
BACKGROUND: This study aims to decipher the genetic basis governing yield components and quality attributes of peanuts, a critical aspect for advancing molecular breeding techniques. Integrating genotype re-sequencing and phenotypic evaluations of seven yield components and two grain quality traits across four distinct environments allowed for the execution of a genome-wide association study (GWAS). RESULTS: The nine phenotypic traits were all continuous and followed a normal distribution...
April 5, 2024: BMC Plant Biology
#16
JOURNAL ARTICLE
Rui Gao, Guang Yang, Mengting Wang, Jing Xiao, Shanru Yi, Yanxin Huang, Zhenxiang Guo, Yunzhe Kang, Qianzheng Fu, Mingzhu Wang, Ben Xu, Shijun Shen, Qianshu Zhu, Meng Liu, Liping Wang, Xinyu Cui, Shanshan Yi, Xiaochen Kou, Yanhong Zhao, Liang Gu, Hong Wang, Shaorong Gao, Cizhong Jiang, Jiayu Chen
Transcription factors (TFs) play important roles in early embryonic development, but factors regulating TF action, relationships in signaling cascade, genome-wide localizations, and impacts on cell fate transitions during this process have not been clearly elucidated. In this study, we used uliCUT&RUN-seq to delineate a TFAP2C-centered regulatory network, showing that it involves promoter-enhancer interactions and regulates TEAD4 and KLF5 function to mediate cell polarization. Notably, we found that maternal retinoic acid metabolism regulates TFAP2C expression and function by inducing the active demethylation of SINEs, indicating that the RARG-TFAP2C-TEAD4/KLF5 axis connects the maternal-to-zygotic transition to polarization...
April 1, 2024: Developmental Cell
#17
JOURNAL ARTICLE
Ayodeji Adegunsoye, Jonathan A Kropski, Juergen Behr, Timothy S Blackwell, Tamera J Corte, Vincent Cottin, Allan Glanville, Marilyn K Glassberg, Matthias Griese, Gary M Hunninghake, Kerri A Johannson, Michael P Keane, John S Kim, Martin Kolb, Toby M Maher, Justin M Oldham, Anna J Podolanczuk, Ivan O Rosas, Fernando J Martinez, Imre Noth, David A Schwartz
Recent genetic and genomic advancements have elucidated the complex etiology of idiopathic pulmonary fibrosis (IPF) and other progressive fibrotic interstitial lung diseases (ILDs), emphasizing the contribution of heritable factors. This state-of-the-art review synthesizes evidence on significant genetic contributors to pulmonary fibrosis (PF), including rare genetic variants and common single nucleotide polymorphisms (SNPs). The MUC5B promoter variant is unusual, a common SNP that markedly elevates the risk of early and established PF...
April 4, 2024: American Journal of Respiratory and Critical Care Medicine
#18
JOURNAL ARTICLE
Yasser Al-Sarraj, Rowaida Z Taha, Eman Al-Dous, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E Shalaby, Amina Al-Ansari, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Hatem El-Shanti, Omar M E Albagha
Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical heterogeneity. Genetic factors play an important role in ASD, but about 75% of ASD cases have an undetermined genetic risk. Methods: We extensively investigated an ASD cohort made of 102 families from the Middle Eastern population of Qatar. First, we investigated the copy number variations (CNV) contribution using genome-wide SNP arrays...
2024: Frontiers in Genetics
#19
JOURNAL ARTICLE
Rudra Kumar Pandey, Anshika Srivastava, Rahul Kumar Mishra, Prajjval Pratap Singh, Gyaneshwer Chaubey
SARS CoV-2, the causative agent for the ongoing COVID-19 pandemic, it enters the host cell by activating the ACE2 receptor with the help of two proteasesi.e., Furin and TMPRSS2. Therefore, variations in these genes may account for differential susceptibility and severity between populations. Previous studies have shown that the role of ACE2 and TMPRSS2 gene variants in understanding COVID-19 susceptibility among Indian populations. Nevertheless, a knowledge gap exists concerning the COVID-19 susceptibility of Furin gene variants among diverse South Asian ethnic groups...
April 3, 2024: Scientific Reports
#20
Haitang Qiu, Shajidan Abudureyimu, Mengjia Liu, Fen Liu, Ying Gao
OBJECTIVE: This study was conducted to investigate the combined effect of genetic variation in the C3 gene and environmental factors on the risk of type 2 diabetes mellitus(T2DM) and coronary artery disease(CAD) in a population from Xinjiang, China. METHODS: We conducted a hospital-based case-control study with 896 participants (217 with T2DM+CAD and 679 healthy controls). A polymerase chain reaction-ligase detection reaction was used to identify and genotype TagSNPs in the C3 gene, and the influence of the interaction of two SNP loci (rs1047286 and rs11569562) with the environment on T2DM combined with CAD was evaluated through clinical data, statistical analysis of gene frequencies, and the formation of a gene-environment interaction model...
2024: Diabetes, Metabolic Syndrome and Obesity
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