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JOURNAL ARTICLE
Yanbing Wang, Chloé Sarnowski, Honghuang Lin, Achilleas N Pitsillides, Nancy L Heard-Costa, Seung Hoan Choi, Dongyu Wang, Joshua C Bis, Elizabeth E Blue, Eric Boerwinkle, Philip L De Jager, Myriam Fornage, Ellen M Wijsman, Sudha Seshadri, Josée Dupuis, Gina M Peloso, Anita L DeStefano
INTRODUCTION: Genome-wide association studies (GWAS) have identified loci associated with Alzheimer's disease (AD) but did not identify specific causal genes or variants within those loci. Analysis of whole genome sequence (WGS) data, which interrogates the entire genome and captures rare variations, may identify causal variants within GWAS loci. METHODS: We performed single common variant association analysis and rare variant aggregate analyses in the pooled population (N cases = 2184, N controls = 2383) and targeted analyses in subpopulations using WGS data from the Alzheimer's Disease Sequencing Project (ADSP)...
March 21, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
#2
JOURNAL ARTICLE
Sheng-Yan Yin, Yuan-Jie Liu, Jie-Pin Li, Jian Liu
The mesenchymal feature, dominated by epithelial mesenchymal transition (EMT) and stromal cell activation, is one of the main reasons for the aggressive nature of tumors, yet it remains poorly understood. In gastric cancer (GC), the fermitin family homolog-2 ( FERMT2 ) is involved in macrophage signaling, promoting migration and invasion. However, the function of FERMT2 in fibroblasts remains unclear. Here, we demonstrated that downregulation of FERMT2 expression can block EMT in GC cells by inhibiting fibroblast activation in vitro...
2024: International Journal of Genomics
#3
JOURNAL ARTICLE
Mohammad Housini, Zhengyang Zhou, John Gutierrez, Sumedha Rao, Rodwan Jomaa, Kumudu Subasinghe, Danielle Marie Reid, Talisa Silzer, Nicole Phillips, Sid O'Bryant, Robert Clinton Barber
INTRODUCTION : Here we evaluate frequencies of the top 10 Alzheimer's disease (AD) risk alleles for late-onset AD in Mexican American (MA) and non-Hispanic White (NHW) American participants enrolled in the Health and Aging Brain Study-Health Disparities Study cohort. METHODS : Using DNA extracted from this community-based diverse population, we calculated the genotype frequencies in each population to determine whether a significant difference is detected between the different ethnicities. DNA genotyping was performed per manufacturers' protocols...
2023: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
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JOURNAL ARTICLE
Yanfei Ding, Haijuan Chen, Yi Yan, Yinghui Qiu, Aonan Zhao, Binyin Li, Wei Xu, Yulei Deng
BACKGROUND: Alzheimer's disease (AD) is a multi-gene inherited disease, and apolipoprotein E ( APOE ) ɛ4 is a strong risk factor. Other genetic factors are important but limited. OBJECTIVE: This study aimed to investigate the relationship between 17 single-nucleotide polymorphisms (SNPs) and AD in the Southern Chinese populations. METHODS: We recruited 242 AD patients and 208 controls. The SNaPshot technique was used to detect the SNPs...
2023: JAD Reports
#5
Yanbing Wang, Chloé Sarnowski, Honghuang Lin, Achilleas N Pitsillides, Nancy L Heard-Costa, Seung Hoan Choi, Dongyu Wang, Joshua C Bis, Elizabeth E Blue, Eric Boerwinkle, Philip L De Jager, Myriam Fornage, Ellen M Wijsman, Sudha Seshadri, Josée Dupuis, Gina M Peloso, Anita L DeStefano
INTRODUCTION: Genome-wide association studies (GWAS) have identified loci associated with Alzheimer's disease (AD) but did not identify specific causal genes or variants within those loci. Analysis of whole genome sequence (WGS) data, which interrogates the entire genome and captures rare variations, may identify causal variants within GWAS loci. METHODS: We performed single common variant association analysis and rare variant aggregate analyses in the pooled population (N cases=2,184, N controls=2,383) and targeted analyses in sub-populations using WGS data from the Alzheimer's Disease Sequencing Project (ADSP)...
August 29, 2023: medRxiv
#6
JOURNAL ARTICLE
Anil K Giri, Mervi Aavikko, Linnea Wartiovaara, Toni Lemmetyinen, Juha Karjalainen, Juha Mehtonen, Kimmo Palin, Niko Välimäki, Max Tamlander, Riikka Saikkonen, Auli Karhu, Ekaterina Morgunova, Benjamin Sun, Heiko Runz, Priit Palta, Shuang Luo, Heikki Joensuu, Tomi P Mäkelä, Iiro Kostiainen, Camilla Schalin-Jäntti, FinnGen, Aarno Palotie, Lauri A Aaltonen, Saara Ollila, Mark J Daly
BACKGROUND & AIMS: Small intestinal neuroendocrine tumor (SI-NET) is a rare disease, but its incidence has increased over the past 4 decades. Understanding the genetic risk factors underlying SI-NETs can help in disease prevention and may provide clinically beneficial markers for diagnosis. Here the results of the largest genome-wide association study of SI-NETs performed to date with 405 cases and 614,666 controls are reported. METHODS: Samples from 307 patients with SI-NETs and 287,137 controls in the FinnGen study were used for the identification of SI-NET risk-associated genetic variants...
October 2023: Gastroenterology
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JOURNAL ARTICLE
Xiangrui Ma, Dan Zhao, Shan Liu, Jinhua Zuo, Wenlong Wang, Fang Wang, Yourui Li, Zhangfan Ding, Jing Wang, Xiaoyi Wang
OBJECTIVES: FERMT2 upregulation was associated with malignant tumor behaviors, including epithelial-to-mesenchymal (EMT). This study aimed to characterize the expression profile of FERMT2 in oral squamous cell carcinoma (OSCC) and to explore its involvement in the tumor microenvironment sculptured by oral cancer-associated fibroblasts (OCAFs). MATERIALS: Previous bulk-seq (TCGA-HNSC) and single-cell RNA-seq data sets were retrieved for bioinformatic analysis. Human OSCC lines SCC15 and CAL27, primary normal oral fibroblasts (NOFs), OCAFs, and THP-1 cells were used for intro studies...
June 25, 2023: Oral Diseases
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JOURNAL ARTICLE
Qing Yao, Weiyuan Gong, Xiaohao Wu, Donghao Gan, Chu Tao, Sixiong Lin, Minghao Qu, Zhongtian Ouyang, Mingjue Chen, Xinjia Hu, Guozhi Xiao
BACKGROUND: Genetically modified mice are the most useful tools for investigating the gene functions in articular cartilage biology and the pathogenesis of osteoarthritis. The Aggrecan CreERT2 mice are one of the most reported mouse lines used for this purpose. The Prg4 (proteoglycan 4) gene encodes the lubricin protein and is expressed selectively in chondrocytes located at the superficial layer of the articular cartilage. While the Prg4 GFPCreERT2 knock-in inducible-Cre transgenic mice were generated a while ago, so far, few studies have used this mouse line to perform gene functional studies in cartilage biology...
July 2023: Journal of Orthopaedic Translation
#9
MULTICENTER STUDY
Muhammad Ali, Derek B Archer, Priyanka Gorijala, Daniel Western, Jigyasha Timsina, Maria V Fernández, Ting-Chen Wang, Claudia L Satizabal, Qiong Yang, Alexa S Beiser, Ruiqi Wang, Gengsheng Chen, Brian Gordon, Tammie L S Benzinger, Chengjie Xiong, John C Morris, Randall J Bateman, Celeste M Karch, Eric McDade, Alison Goate, Sudha Seshadri, Richard P Mayeux, Reisa A Sperling, Rachel F Buckley, Keith A Johnson, Hong-Hee Won, Sang-Hyuk Jung, Hang-Rai Kim, Sang Won Seo, Hee Jin Kim, Elizabeth Mormino, Simon M Laws, Kang-Hsien Fan, M Ilyas Kamboh, Prashanthi Vemuri, Vijay K Ramanan, Hyun-Sik Yang, Allen Wenzel, Hema Sekhar Reddy Rajula, Aniket Mishra, Carole Dufouil, Stephanie Debette, Oscar L Lopez, Steven T DeKosky, Feifei Tao, Michael W Nagle, Timothy J Hohman, Yun Ju Sung, Logan Dumitrescu, Carlos Cruchaga
Amyloid PET imaging has been crucial for detecting the accumulation of amyloid beta (Aβ) deposits in the brain and to study Alzheimer's disease (AD). We performed a genome-wide association study on the largest collection of amyloid imaging data (N = 13,409) to date, across multiple ethnicities from multicenter cohorts to identify variants associated with brain amyloidosis and AD risk. We found a strong APOE signal on chr19q.13.32 (top SNP: APOE ɛ4; rs429358; β = 0...
April 26, 2023: Acta Neuropathologica Communications
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JOURNAL ARTICLE
Julien Pernier, Marcelina Cardoso Dos Santos, Mariem Souissi, Adrien Joly, Hemalatha Narassimprakash, Olivier Rossier, Grégory Giannone, Emmanuèle Helfer, Kheya Sengupta, Christophe Le Clainche
Focal adhesions are composed of transmembrane integrins, linking the extracellular matrix to the actomyosin cytoskeleton, via cytoplasmic proteins. Adhesion depends on the activation of integrins. Talin and kindlin proteins are intracellular activators of integrins that bind to β-integrin cytoplasmic tails. Integrin activation and clustering through extracellular ligands guide the organization of adhesion complexes. However, the roles of talin and kindlin in this process are poorly understood. To determine the contribution of talin, kindlin, lipids and actomyosin in integrin clustering, we used a biomimetic in vitro system, made of giant unilamellar vesicles, containing transmembrane integrins (herein αIIbβ3), with purified talin (talin-1), kindlin (kindlin-2, also known as FERMT2) and actomyosin...
April 15, 2023: Journal of Cell Science
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JOURNAL ARTICLE
Leili Tapak, Mohammad Kazem Ghasemi, Saeid Afshar, Hossein Mahjub, Alireza Soltanian, Hassan Khotanlou
BACKGROUND: Oral cancer (OC) is a debilitating disease that can affect the quality of life of these patients adversely. Oral premalignant lesion patients have a high risk of developing OC. Therefore, identifying robust survival subgroups among them may significantly improve patient therapy and care. This study aimed to identify prognostic biomarkers that predict the time-to-development of OC and survival stratification for patients using state-of-the-art machine learning and deep learning...
February 27, 2023: BMC Medical Genomics
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REVIEW
Xiaofei Ma, Aiju Liu, Shujun Tian
The FecB mutation in the sheep BMPRIB is strongly correlated with high ovulation traits but its mechanism remains unclear. This study explored differentially expressed genes (DEGs) and their associated molecular mechanisms that may be involved in FecB mutation-induced high ovulation from the perspective of the hypothalamic-pituitary-gonadal (HPG) axis by conducting a systematic review and meta-analysis. The PubMed, EMBASE, CNKI, WanFang, and CBM databases were searched for eligible articles published before August 2022, focusing on mRNA sequencing of different tissues in the HPG axis in sheep with different FecB genotypes...
February 22, 2023: Animal Genetics
#13
JOURNAL ARTICLE
Xin Wang, Iris Broce, Kacie D Deters, Chun Chieh Fan, Sarah Jane Banks
BACKGROUND AND OBJECTIVES: Important sex differences exist in tau pathology along the Alzheimer disease (AD) continuum, with women showing enhanced tau deposition compared with men, especially during the mild cognitive impairment (MCI) phase. This study aims to identify specific genetic variants associated with sex differences in regional tau aggregation, as measured with PET. METHODS: Four hundred ninety-three participants (women, n = 246; men, n = 247) who self-identified as White from the AD Neuroimaging Initiative study, with genotyping data and 18 F-Flortaucipir tau PET data, were included irrespective of clinical diagnosis (cognitively normal [CN], MCI, and AD)...
December 2022: Neurology. Genetics
#14
JOURNAL ARTICLE
Wenzhen Xia, Zhaoyu Gao, Xia Jiang, Lei Jiang, Yushi Qin, Di Zhang, Pei Tian, Wanchang Wang, Qi Zhang, Rui Zhang, Nan Zhang, Shunjiang Xu
Increasing evidence from epidemiological studies indicate that Alzheimer's disease (AD) has a negative relationship with the incidence of cancers. Whether the Alzheimer's genetic risk factor, named as fermitin family homolog-2 (FERMT2), plays a pivotal part in the progressive process of colorectal carcinoma (CRC) yet remains unclear. This study revealed that FERMT2 was upregulated in CRC tissues which predicted an unfavorable outcome of CRC using the PrognoScan web tool. FERMT2 was co-expressed with a variety of genes have been linked with CRC occurrence and implicated in the infiltration of immune cell in CRC tissues...
2022: PloS One
#15
JOURNAL ARTICLE
Emily R Penick, Nicholas W Bateman, Christine Rojas, Cuauhtemoc Magana, Kelly Conrads, Ming Zhou, Brian L Hood, Guisong Wang, Niyati Parikh, Ying Huang, Kathleen M Darcy, Yovanni Casablanca, Paulette Mhawech-Fauceglia, Thomas P Conrads, G Larry Maxwell
BACKGROUND: Optimal cytoreduction to no residual disease (R0) correlates with improved disease outcome for high-grade serous ovarian cancer (HGSOC) patients. Treatment of HGSOC patients with neoadjuvant chemotherapy, however, may select for tumor cells harboring alterations in hallmark cancer pathways including metastatic potential. This study assessed this hypothesis by performing proteomic analysis of matched, chemotherapy naïve and neoadjuvant chemotherapy (NACT)-treated HGSOC tumors obtained from patients who had suboptimal (R1, n = 6) versus optimal (R0, n = 14) debulking at interval debulking surgery (IDS)...
October 4, 2022: Clinical Proteomics
#16
JOURNAL ARTICLE
Juan Jung, Muzamil Majid Khan, Jonathan Landry, Aliaksandr Halavatyi, Pedro Machado, Miriam Reiss, Rainer Pepperkok
Proteins that enter the secretory pathway are transported from their place of synthesis in the endoplasmic reticulum to the Golgi complex by COPII-coated carriers. The networks of proteins that regulate these components in response to extracellular cues have remained largely elusive. Using high-throughput microscopy, we comprehensively screened 378 cytoskeleton-associated and related proteins for their functional interaction with the coat protein complex II (COPII) components SEC23A and SEC23B. Among these, we identified a group of proteins associated with focal adhesions (FERMT2, MACF1, MAPK8IP2, NGEF, PIK3CA, and ROCK1) that led to the downregulation of SEC23A when depleted by siRNA...
August 1, 2022: Journal of Cell Biology
#17
JOURNAL ARTICLE
Mathias Vanmunster, Ana Victoria Rojo Garcia, Alexander Pacolet, Sebastiaan Dalle, Katrien Koppo, Ilse Jonkers, Rik Lories, Frank Suhr
BACKGROUND: Skeletal muscles (SkM) are mechanosensitive, with mechanical unloading resulting in muscle-devastating conditions and altered metabolic properties. However, it remains unexplored whether these atrophic conditions affect SkM mechanosensors and molecular clocks, both crucial for their homeostasis and consequent physiological metabolism. METHODS: We induced SkM atrophy through 14 days of hindlimb suspension (HS) in 10 male C57BL/6J mice and 10 controls (CTR)...
May 27, 2022: Cellular and Molecular Life Sciences: CMLS
#18
JOURNAL ARTICLE
G-M Cao, X-Z Xuan, H-L Dong
OBJECTIVE: An abdominal aortic aneurysm (AAA) is a potentially fatal disease associated with a high risk of rupture. AAA is pathologically distinguished by atherosclerotic thrombosis, immune cell infiltration, smooth muscle cell apoptosis, and extracellular matrix degradation. Given that there are no effective target treatments, once ruptured, AAA leads to high mortality with few long-term survivors. The goal of this study is to identify novel key pathways and hub genes involved in AAA formation with the aim of providing promising therapeutic targets for AAA...
April 2022: European Review for Medical and Pharmacological Sciences
#19
JOURNAL ARTICLE
Alexandra N Smith, Logan Dumitrescu, Shubhabrata Mukherjee, Michael L Lee, Seo-Eun Choi, Emily H Trittschuh, Jesse Mez, Emily R Mahoney, William S Bush, Corinne D Engelman, Qiongshi Lu, David W Fardo, Keith F Widaman, Rachel F Buckley, Elizabeth C Mormino, Theresa M Harrison, R Elizabeth Sanders, Lindsay R Clark, Katherine A Gifford, Badri N Vardarajan, A Study Team, Michael L Cuccaro, Margaret A Pericak-Vance, Lindsay A Farrer, Li-San Wang, Gerard D Schellenberg, Jonathan L Haines, Angela L Jefferson, Sterling C Johnson, Walter A Kukull, Marilyn S Albert, C Dirk Keene, Andrew J Saykin, Eric B Larson, Reisa A Sperling, Richard Mayeux, David A Bennett, Julie A Schneider, Paul K Crane, Timothy J Hohman
BACKGROUND: There are notable sex differences in the clinical manifestation of Alzheimer's disease (AD), including differences in baseline and longitudinal changes in memory performance. However, sex-stratified models have not been routinely incorporated into genetic studies of cognitive performance or decline. We sought to identify sex-specific genetic predictors of memory performance in aging adults. METHOD: We obtained harmonized memory scores from 11,601 females and 8,885 males from 7 cohorts of cognitive aging...
December 2021: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
#20
JOURNAL ARTICLE
Brooke Sadler, Charles G Minard, Gabe Haller, Christina A Gurnett, Sarah H O'Brien, Allison Wheeler, Shilpa Jain, Mutka Sharma, Ayesha Zia, Roshni Kulkarni, Eric Mullins, Margaret V Ragni, Robert Sidonio, Jennifer E Dietrich, Peter A Kouides, Jorge Di Paola, Lakshmi Srivaths
Adolescents with low von Willebrand factor (VWF) levels and heavy menstrual bleeding (HMB) experience significant morbidity. There is a need to better characterize these patients genetically and improve our understanding of the pathophysiology of bleeding. We performed whole-exome sequencing on 86 postmenarchal patients diagnosed with low VWF levels (30-50 IU/dL) and HMB and compared them with 660 in-house controls. We compared the number of rare stop-gain/stop-loss and rare ClinVar "pathogenic" variants between cases and controls, as well as performed gene burden and gene-set burden analyses...
January 25, 2022: Blood Advances
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