Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#21
JOURNAL ARTICLE
Guosong Shen, Wenwen Li, Yaqin Zhang, Lyuyan Chen
BACKGROUND: Newborn screening (NBS), such as tandem mass spectrometry (MS/MS), may yield false positive/negative results. Next-generation sequencing (NGS) has the potential to provide increased data output, efficiencies, and applications. This study aimed to analyze the types and distribution of pathogenic gene mutations in newborns in Huzhou, Zhejiang province, China and explore the applicability of NGS and MS/MS in NBS. METHODS: Blood spot samples from 1263 newborns were collected...
April 1, 2024: BMC Pediatrics
#22
JOURNAL ARTICLE
Weiru Yan, Yishen Li, Edward J Louis, Charalambos P Kyriacou, Yue Hu, Rebecca L Cordell, Xiaodong Xie
An attractive perfume is a complex mixture of compounds, some of which may be unpleasant on their own. This is also true for the volatile combinations from yeast fermentation products in vineyards and orchards when assessed by Drosophila. Here we used crosses between a yeast strain with an attractive fermentation profile and another strain with a repulsive one and tested flies responses using a T-maze. QTL analysis reveals allelic variation in four yeast genes, PTC6, SAT4, YFL040W, and ARI1, that modulated expression levels of volatile compounds (assessed by GC-MS) and in different combinations, generated various levels of attractiveness...
April 1, 2024: Genetics
#23
REVIEW
Lucia Santoro, Graziella Cefalo, Fabrizio Canalini, Silvia Rossi, Maurizio Scarpa
Alpha-mannosidosis is an ultra-rare lysosomal disease that is caused by variants of the MAN2B1 gene on chromosome 19p13. These variants result in faulty or absent alpha-mannosidase in lysosomes, which leads to intracellular accumulation of mannose-containing oligosaccharides. Diagnosis of alpha-mannosidosis is often delayed, in part because of the rarity of the disease, its gradual onset and heterogeneity of presentation, but also because of the similarity of many signs and symptoms of the disease to those of other lysosomal diseases...
March 14, 2024: Molecular Genetics and Metabolism
#24
JOURNAL ARTICLE
Venkata Rao Ganaparthi, Patrick Wechter, Amnon Levi, Sandra E Branham
Fon race 2 resistant QTLs were identified on chromosomes 8 and 9. Families homozygous for resistance alleles at a haplotype of three KASP markers had 42% lower disease severity than those with susceptible alleles in an independent, interspecific validation population confirming their utility for introgression of Fusarium wilt resistance. Fusarium oxysporum f. sp. niveum (Fon) race 2 causes Fusarium wilt in watermelon and threatens watermelon production worldwide. Chemical management options are not effective, and no resistant edible watermelon cultivars have been released...
March 31, 2024: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
#25
JOURNAL ARTICLE
Jiali Xu, Yuqiong Yang, Zhizhen Gao, Tao Song, Yichuan Ma, Xiaojun Yu, Changzheng Shi
OBJECTIVE: To explore the feasibility of identifying epidermal growth factor receptor (EGFR) mutation molecular subtypes in primary lesions based on the radiomics features of lung adenocarcinoma brain metastases using magnetic resonance imaging (MRI). METHODS: We retrospectively analyzed clinical, imaging, and genetic testing data of patients with lung adenocarcinoma with EGFR gene mutations who had brain metastases. Three-dimensional radiomics features were extracted from contrast-enhanced T1-weighted images...
March 26, 2024: Clinical Neurology and Neurosurgery
#26
JOURNAL ARTICLE
Tero Sievänen, Tiina Jokela, Matti Hyvärinen, Tia-Marje Korhonen, Kirsi Pylvänäinen, Jukka-Pekka Mecklin, Juha Karvanen, Elina Sillanpää, Toni T Seppälä, Eija K Laakkonen
Lynch syndrome (LS) is the most common autosomal dominant cancer syndrome and is characterized by high genetic cancer risk modified by lifestyle factors. This study explored whether a circulating microRNA (c-miR) signature predicts LS cancer incidence within a 4-year prospective surveillance period. To gain insight how lifestyle behavior could affect LS cancer risk, we investigated whether the cancer-predicting c-miR signature correlates with known risk-reducing factors such as physical activity, body mass index (BMI), dietary fiber or non-steroidal anti-inflammatory drug usage...
March 29, 2024: Cancer Prevention Research
#27
JOURNAL ARTICLE
Konstantinos Flevaris, Joseph Davies, Shoh Nakai, Frano Vučković, Gordan Lauc, Malcolm G Dunlop, Cleo Kontoravdi
Effective management of chronic diseases and cancer can greatly benefit from disease-specific biomarkers that enable informative screening and timely diagnosis. IgG N-glycans found in human plasma have the potential to be minimally invasive disease-specific biomarkers for all stages of disease development due to their plasticity in response to various genetic and environmental stimuli. Data analysis and machine learning (ML) approaches can assist in harnessing the potential of IgG glycomics towards biomarker discovery and the development of reliable predictive tools for disease screening...
December 2024: Computational and Structural Biotechnology Journal
#28
JOURNAL ARTICLE
Michele Teodoro, Sebastiano Italia, Federica Giambò, Chiara Costa, Concettina Fenga
The COVID-19 pandemic had a profound impact on the physical and mental health of healthcare professionals. The present study explored the relationship between sleep disorders, stress, coping strategies and neurobehavioral aspects among young physicians during the second wave of the COVID-19 pandemic. Through a multi-assessment approach, this cross-sectional study collected sociodemographic and occupational data from first-year resident doctors in southern Italy. Subjective sleep quality, chronotype, work-related stress, coping approach and mood state were assessed by administering validated questionnaires during face-to-face interviews...
May 2024: Biomedical Reports
#29
JOURNAL ARTICLE
Xi Chen, Ying Zhang, Amanda M Fretts, Tauqeer Ali, Jason G Umans, Richard B Devereux, Elisa T Lee, Shelley A Cole, Yan Daniel Zhao
The generalized estimating equations method (GEE) is commonly applied to analyze data obtained from family studies. GEE is well known for its robustness on misspecification of correlation structure. However, the unbalanced distribution of family sizes and complicated genetic relatedness structure within each family may challenge GEE performance. We focused our research on binary outcomes. To evaluate the performance of GEE, we conducted a series of simulations, on data generated adopting the kinship matrix (correlation structure within each family) from the Strong Heart Family Study (SHFS)...
March 29, 2024: Journal of Biopharmaceutical Statistics
#30
JOURNAL ARTICLE
Kao-Jung Chang, Hsin-Yu Wu, Pin-Hsuan Chiang, Yu-Tien Hsu, Pei-Yu Weng, Ting-Han Yu, Cheng-Yi Li, Yu-Hsiang Chen, He-Jhen Dai, Han-Ying Tsai, Yu-Jung Chang, You-Ren Wu, Yi-Ping Yang, Cheng-Ta Li, Chih-Chien Hsu, Shih-Jen Chen, Yu-Chun Chen, Ching-Yu Cheng, Ai-Ru Hsieh, Shih-Hwa Chiou
INTRODUCTION: The clinical presentations of dry eye disease (DED) and depression (DEP) often comanifest. However, the robustness and the mechanisms underlying this association were undetermined. OBJECTIVES: To this end, we set up a three-segment study that employed multimodality results (meta-analysis, genome-wide association study [GWAS] and Mendelian randomization [MR]) to elucidate the association, common pathways and causality between DED and DEP. METHODS: A meta-analysis comprising 26 case-control studies was first conducted to confirm the DED-DEP association...
March 26, 2024: Journal of Advanced Research
#31
JOURNAL ARTICLE
Lucía Almorox, Laura Antequera, Ignacio Rojas, Luis Javier Herrera, Francisco M Ortuño
The analysis of gene expression quantification data is a powerful and widely used approach in cancer research. This work provides new insights into the transcriptomic changes that occur in healthy uterine tissue compared to those in cancerous tissues and explores the differences associated with uterine cancer localizations and histological subtypes. To achieve this, RNA-Seq data from the TCGA database were preprocessed and analyzed using the KnowSeq package. Firstly, a kNN model was applied to classify uterine cervix cancer, uterine corpus cancer, and healthy uterine samples...
February 28, 2024: Genes
#32
JOURNAL ARTICLE
Danish Ibrar, Shahbaz Khan, Mudassar Raza, Muhammad Nawaz, Zuhair Hasnain, Muhammad Kashif, Afroz Rais, Safia Gul, Rafiq Ahmad, Abdel-Rhman Z Gaafar
Application of machine learning in plant breeding is a recent concept, that has to be optimized for precise utilization in the breeding program of high yielding crop plants. Identification and efficient utilization of heterotic grouping pattern aided with machine learning approaches is of utmost importance in hybrid cultivar breeding as it can save time and resources required to breed a new plant hybrid/variety. In the present study, 109 genotypes of sunflower were investigated at morphological, biochemical (SDS-PAGE) and molecular levels (through micro-satellites (SSR) markers) for heterotic grouping...
March 27, 2024: Scientific Reports
#33
JOURNAL ARTICLE
Lin Mei, Zhiming Zhang, Ruiqi Chen, Zhihong Li
BACKGROUND: Individuals with osteoarthritis present with comorbidities, and the potential causal associations remain incompletely elucidated. The present study undertook a large-scale investigation about the causality between osteoarthritis and variable traits, using the summary-level data of genome-wide association studies (GWAS). METHODS: The present study included the summary-level GWS data of knee osteoarthritis, hip osteoarthritis, hip or knee osteoarthritis, hand osteoarthritis, and other 1355 traits...
March 26, 2024: BMC Musculoskeletal Disorders
#34
JOURNAL ARTICLE
Yakubu Ibrahim, Nurul Iftida, Norshariza Nordin, Amilia Afzan Mohd Jamil
BACKGROUND: Vitamin D deficiency has been associated with hypertensive disorders in pregnancy (HDP). The risk of developing HDP was reported to be further augmented among individuals with a vitamin D receptor (VDR) genetic variant. However, the reported roles of VDR variants in hypertensive disorders are inconsistent among different populations. Given the relatively higher incidence of vitamin D deficiency among Malaysian pregnant women and the high incidence of HDP in this population, we hypothesize that there may be associations between the risk of vitamin D deficiency and HDP with VDR genetic variants...
March 26, 2024: JMIR Research Protocols
#35
JOURNAL ARTICLE
Hideo Hagihara, Hirotaka Shoji, Satoko Hattori, Giovanni Sala, Yoshihiro Takamiya, Mika Tanaka, Masafumi Ihara, Mihiro Shibutani, Izuho Hatada, Kei Hori, Mikio Hoshino, Akito Nakao, Yasuo Mori, Shigeo Okabe, Masayuki Matsushita, Anja Urbach, Yuta Katayama, Akinobu Matsumoto, Keiichi I Nakayama, Shota Katori, Takuya Sato, Takuji Iwasato, Haruko Nakamura, Yoshio Goshima, Matthieu Raveau, Tetsuya Tatsukawa, Kazuhiro Yamakawa, Noriko Takahashi, Haruo Kasai, Johji Inazawa, Ikuo Nobuhisa, Tetsushi Kagawa, Tetsuya Taga, Mohamed Darwish, Hirofumi Nishizono, Keizo Takao, Kiran Sapkota, Kazutoshi Nakazawa, Tsuyoshi Takagi, Haruki Fujisawa, Yoshihisa Sugimura, Kyosuke Yamanishi, Lakshmi Rajagopal, Nanette Deneen Hannah, Herbert Y Meltzer, Tohru Yamamoto, Shuji Wakatsuki, Toshiyuki Araki, Katsuhiko Tabuchi, Tadahiro Numakawa, Hiroshi Kunugi, Freesia L Huang, Atsuko Hayata-Takano, Hitoshi Hashimoto, Kota Tamada, Toru Takumi, Takaoki Kasahara, Tadafumi Kato, Isabella A Graef, Gerald R Crabtree, Nozomi Asaoka, Hikari Hatakama, Shuji Kaneko, Takao Kohno, Mitsuharu Hattori, Yoshio Hoshiba, Ryuhei Miyake, Kisho Obi-Nagata, Akiko Hayashi-Takagi, Léa J Becker, Ipek Yalcin, Yoko Hagino, Hiroko Kotajima-Murakami, Yuki Moriya, Kazutaka Ikeda, Hyopil Kim, Bong-Kiun Kaang, Hikari Otabi, Yuta Yoshida, Atsushi Toyoda, Noboru H Komiyama, Seth G N Grant, Michiru Ida-Eto, Masaaki Narita, Ken-Ichi Matsumoto, Emiko Okuda-Ashitaka, Iori Ohmori, Tadayuki Shimada, Kanato Yamagata, Hiroshi Ageta, Kunihiro Tsuchida, Kaoru Inokuchi, Takayuki Sassa, Akio Kihara, Motoaki Fukasawa, Nobuteru Usuda, Tayo Katano, Teruyuki Tanaka, Yoshihiro Yoshihara, Michihiro Igarashi, Takashi Hayashi, Kaori Ishikawa, Satoshi Yamamoto, Naoya Nishimura, Kazuto Nakada, Shinji Hirotsune, Kiyoshi Egawa, Kazuma Higashisaka, Yasuo Tsutsumi, Shoko Nishihara, Noriyuki Sugo, Takeshi Yagi, Naoto Ueno, Tomomi Yamamoto, Yoshihiro Kubo, Rie Ohashi, Nobuyuki Shiina, Kimiko Shimizu, Sayaka Higo-Yamamoto, Katsutaka Oishi, Hisashi Mori, Tamio Furuse, Masaru Tamura, Hisashi Shirakawa, Daiki X Sato, Yukiko U Inoue, Takayoshi Inoue, Yuriko Komine, Tetsuo Yamamori, Kenji Sakimura, Tsuyoshi Miyakawa
Increased levels of lactate, an end-product of glycolysis, have been proposed as a potential surrogate marker for metabolic changes during neuronal excitation. These changes in lactate levels can result in decreased brain pH, which has been implicated in patients with various neuropsychiatric disorders. We previously demonstrated that such alterations are commonly observed in five mouse models of schizophrenia, bipolar disorder, and autism, suggesting a shared endophenotype among these disorders rather than mere artifacts due to medications or agonal state...
March 26, 2024: ELife
#36
JOURNAL ARTICLE
Zihan Dong, Hongyu Zhao, Andrew T DeWan
Identification of pleiotropy at the single nucleotide polymorphism (SNP) level provides valuable insights into shared genetic signals among phenotypes. One approach to study these signals is through mediation analysis, which dissects the total effect of a SNP on the outcome into a direct effect and an indirect effect through a mediator. However, estimated effects from mediation analysis can be confounded by the genetic correlation between phenotypes, leading to inaccurate results. To address this confounding effect in the context of genetic mediation analysis, we propose a restricted-maximum-likelihood (REML)-based mediation analysis framework called REML-mediation, which can be applied to either individual-level or summary statistics data...
March 25, 2024: Journal of Human Genetics
#37
JOURNAL ARTICLE
Moon Hyung Choi, Seung Bae Yoon, Young Joon Lee, Eun Sun Jung, Seongyong Pak, Dongyeob Han, Dominik Nickel
PURPOSE: To identify the clinical and genetic variables associated with rim enhancement of pancreatic ductal adenocarcinoma (PDAC) and to develop a dynamic contrast-enhanced (DCE) MRI-based radiomics model for predicting the genetic status from next-generation sequencing (NGS). MATERIALS AND METHODS: Patients with PDAC, who underwent pretreatment pancreatic DCE-MRI between November 2019 and July 2021, were eligible in this prospective study. Two radiologists evaluated presence of rim enhancement in PDAC, a known radiological prognostic indicator, on DCE MRI...
2024: Frontiers in Oncology
#38
JOURNAL ARTICLE
Neta Zadok, Gil Ast, Roded Sharan
Autism spectrum disorder (ASD) is a highly heritable complex disease that affects 1% of the population, yet its underlying molecular mechanisms are largely unknown. Here we study the problem of predicting causal genes for ASD by combining genome-scale data with a network propagation approach. We construct a predictor that integrates multiple omic data sets that assess genomic, transcriptomic, proteomic, and phosphoproteomic associations with ASD. In cross validation our predictor yields mean area under the ROC curve of 0...
2024: Front Bioinform
#39
JOURNAL ARTICLE
Bronwyn S Bedrick, Laura Courtright, Jiahui Zhang, Morgan Snow, Isabela Landsteiner Sampaio Amendola, Elisabeth Nylander, Kamaria Cayton-Vaught, James Segars, Bhuchitra Singh
OBJECTIVE: To assess the current literature evaluating the epigenetics of endometriosis in humans. EVIDENCE REVIEW: A systematic review was conducted in accordance with the PRISMA guidelines within PubMed, EBSCOhost, Cochrane Library, Embase, Scopus, and Web of Science Core Collection. A comprehensive search strategy was developed by a data informationist. Observational and interventional studies assessing epigenetics in humans published in English up to January 15th, 2023, were included...
January 2024: F&S reviews
#40
JOURNAL ARTICLE
Jianhong Zhan, Chuangqi Chen, Na Zhang, Shuhuai Zhong, Jiaming Wang, Jinzhou Hu, Jiang Liu
Embryo quality is a critical determinant of clinical outcomes in assisted reproductive technology (ART). A recent clinical trial investigating preimplantation DNA methylation screening (PIMS) revealed that whole genome DNA methylation level is a novel biomarker for assessing ART embryo quality. Here, we reinforced and estimated the clinical efficacy of PIMS. We introduce PIMS-AI, an innovative artificial intelligence (AI) based model, to predict the probability of an embryo producing live birth and subsequently assist ART embryo selection...
December 31, 2023: Biophysics Reports
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
