Article
Endocrinology & Metabolism
Jia Y. Wan, Deborah L. Goodman, Emileigh L. Willems, Alexis R. Freedland, Trina M. Norden-Krichmar, Stephanie A. Santorico, Karen L. Edwards
Summary: This study identified genetic associations for MetS traits with ethnic-specificity and heterogeneity across populations. Most associations were found outside of candidate linkage regions, illustrating the complex genetic architecture underlying MetS.
DIABETOLOGY & METABOLIC SYNDROME
(2021)
Article
Psychology, Clinical
Alan R. Sanders, Gary W. Beecham, Shengru Guo, Judith A. Badner, Sven Bocklandt, Brian S. Mustanski, Dean H. Hamer, Eden R. Martin
Summary: The study analyzed two main datasets on male sexual orientation, finding the strongest genetic linkage at chromosome 8 and Xq28. While genetic contributions to male sexual orientation are increasingly evident, understanding of contributory loci remains limited, emphasizing the complexity of the trait. Further genetic research, particularly through large GWAS, is needed to advance understanding of this important trait.
ARCHIVES OF SEXUAL BEHAVIOR
(2021)
Article
Multidisciplinary Sciences
Maryam S. Daneshpour, Maryam Zarkesh, Sajedeh Masjoudi, Fereidoun Azizi, Mehdi Hedayati
Summary: This study found a relationship between genetic and environmental factors with obesity and MetS. Microsatellite markers were associated with WC and BMI in a family-based study.
SCIENTIFIC REPORTS
(2021)
Article
Psychology, Clinical
Alan R. Sanders, Gary W. Beecham, Shengru Guo, Khytam Dawood, Gerulf Rieger, Ritesha S. Krishnappa, Alana B. Kolundzija, J. Michael Bailey, Eden R. Martin
Summary: Male sexual orientation is influenced by environmental and complex genetic factors, with childhood gender nonconformity being strongly correlated with homosexuality. Through a genome-wide linkage scan and family-based association analyses, specific loci associated with childhood gender nonconformity were identified, shedding light on the genetic basis of these traits.
ARCHIVES OF SEXUAL BEHAVIOR
(2021)
Article
Microbiology
Qian Qin, Su Yan, Yang Yang, Jingfeng Chen, Tiantian Li, Xinxin Gao, Hang Yan, Youxiang Wang, Jiao Wang, Shoujun Wang, Suying Ding
Summary: The gut microbiomes of MetS patients were found to be different from those of controls, with lower diversity in MetS patients. Several bacterial species were negatively correlated with waist circumference and enriched in controls. Microbiome changes in MetS patients may aggravate inflammation and contribute to MetS diseases by inhibiting the production of short-chain fatty acids (SCFAs).
FRONTIERS IN MICROBIOLOGY
(2021)
Article
Agriculture, Multidisciplinary
Yu Hai-Xia, Duan Xi-Xian, Sun Ai-Qing, Sun Xiao-Xiao, Zhang Jing-Juan, Sun Hua-Qing, Sun Yan-Yan, Ning Tang-Yuan, Tian Ji-Chun, Wang Dong-Xue, Li Hao, Fan Ke-Xin, Wang Ai-Ping, Ma Wu-Jun, Chen Jian-Sheng
Summary: This study examined the grain-filling traits in wheat using genetic maps and identified several stable additive quantitative trait loci (QTLs) and significant marker-trait associations (MTAs). The findings contribute to understanding the genetic architecture of grain yield and provide insights into candidate genes for grain yield traits.
JOURNAL OF INTEGRATIVE AGRICULTURE
(2022)
Article
Plant Sciences
Haiye Luan, Changyu Chen, Ju Yang, Hailong Qiao, Hongtao Li, Shufeng Li, Junyi Zheng, Huiquan Shen, Xiao Xu, Jun Wang
Summary: Waterlogging is a major factor affecting the yield and quality of barley. This study used genome-wide association study and transcriptome analysis to identify SNPs and differentially expressed genes associated with waterlogging tolerance in barley. Several candidate genes were found to have a role in enhancing waterlogging tolerance, which has implications for breeding waterlogging-tolerant barley varieties.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Plant Sciences
Mohamed A. Abou-Zeid, Amira M. I. Mourad
Summary: The study evaluated 103 spring wheat genotypes from fourteen countries for resistance to stripe rust for two years, identifying eight genotypes with resistance. Genotyping revealed three gene models associated with disease resistance and detected an immune Iranian genotype with multiple different alleles. Identified SNP markers were stable and could potentially improve stripe rust resistance in Egyptian wheat genotypes.
Article
Plant Sciences
Lei Wang, Jinqing Xu, Handong Wang, Tongrui Chen, En You, Haiyan Bian, Wenjie Chen, Bo Zhang, Yuhu Shen
Summary: A collection of 288 oat lines from around the world were evaluated to study the genetic diversity, population structure, and linkage disequilibrium of oat. The results showed high genetic diversity and strong population structure in the oat lines. Significant associations were found between markers and traits related to hullessness and lemma color. These findings have important implications for further research and breeding of oat in high-altitude regions.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Plant Sciences
Tilahun Mekonnen, Clay H. Sneller, Teklehaimanot Haileselassie, Cathrine Ziyomo, Bekele G. Abeyo, Stephen B. Goodwin, Dagnachew Lule, Kassahun Tesfaye
Summary: This study aimed to elucidate the genomic architecture of septoria tritici blotch (STB) resistance in an association panel of 178 bread wheat genotypes. Through phenotyping and genotyping, 53 loci associated with STB resistance were identified, with 33 putative quantitative trait loci (QTLs) confirmed. Population structure and principal component analyses revealed two sub-groups with high degrees of admixture.
FRONTIERS IN PLANT SCIENCE
(2021)
Review
Plant Sciences
Pusarla Susmitha, Pawan Kumar, Pankaj Yadav, Smrutishree Sahoo, Gurleen Kaur, Manish K. Pandey, Varsha Singh, Te Ming Tseng, Sunil S. Gangurde
Summary: Legumes are valuable due to their high protein content and other nutritional components. Climate change poses challenges to maintaining the quantity and quality of these nutritional compounds. Genome-wide association studies (GWAS) and machine learning methods have promising applications in addressing these challenges in agricultural genetics.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Agronomy
Kunyan Zou, Ki-Seung Kim, Dongwoo Kang, Min-Cheol Kim, Jungmin Ha, Jung-Kyung Moon, Tae-Hwan Jun
Summary: This study aimed to evaluate the genetic diversity of peanut accessions and identified several SNPs associated with leaf chlorophyll content. The study also found a significant correlation between a specific SNP and leaf chlorophyll content across seasons. The expression of the Arahy.SDG4EV gene was also significantly correlated with leaf chlorophyll content. These findings provide valuable information for assessing genetic variations in chlorophyll content and can be used for further genetic and genomic studies and breeding programs in peanuts.
Article
Agronomy
Hongliang Zheng, Shichen Sun, Liangming Bai, Shukun Jiang, Guohua Ding, Tongtong Wang, Hongwei Zhao, Jingguo Wang, Hualong Liu, Luomiao Yang, Yan Jia, Xin Wei, Yongcai Lai, Detang Zou
Summary: This study identified QTLs associated with panicle length in rice using genotypic data analysis and linkage mapping. The LOC_Os06g14200 gene was found to play an important role in the regulation of panicle length in rice. These findings provide resources for improving rice's high yield potential.
Article
Food Science & Technology
Haeun Park, Kyung Won Lee, Dayeon Shin
Summary: This study found that seaweed consumption is negatively associated with the odds of developing metabolic syndrome and abdominal obesity in Korean adults.
Article
Biology
Francesc Coll, Theodore Gouliouris, Sebastian Bruchmann, Jody Phelan, Kathy E. Raven, Taane G. Clark, Julian Parkhill, Sharon J. Peacock
Summary: PowerBacGWAS is a computational pipeline that performs power calculations for bacterial genome-wide association studies using existing genomic data. This tool implements two alternative approaches for power calculations and can determine sample sizes required to detect causal variants of different minor allele frequencies, effect sizes, and phenotype heritability. It can also be applied to other bacterial populations to determine statistically significant associations or detectable associations with a given sample size.
COMMUNICATIONS BIOLOGY
(2022)
Article
Clinical Neurology
Romuald Girard, Yan Li, Agnieszka Stadnik, Robert Shenkar, Nicholas Hobson, Sharbel Romanos, Abhinav Srinath, Thomas Moore, Rhonda Lightle, Abdallah Shkoukani, Amy Akers, Timothy Carroll, Gregory A. Christoforidis, James Koenig, Cornelia Lee, Kristina Piedad, Steven M. Greenberg, Helen Kim, Kelly D. Flemming, Yuan Ji, Issam A. Awad
Summary: The study aims to optimize biomarkers for accurate diagnosis of cerebral cavernous angioma with symptomatic hemorrhage (CASH), predict the risk of future hemorrhage, and monitor cases after bleeding and in response to therapy.
Article
Genetics & Heredity
K. P. Thompson, J. Nelson, H. Kim, L. Pawlikowska, D. A. Marchuk, M. T. Lawton, Marie E. Faughnan
Summary: Chronic gastrointestinal bleeding, anemia, and symptomatic liver vascular malformations are associated with increased mortality in HHT patients, while pulmonary arteriovenous malformations and brain vascular malformations do not seem to impact mortality.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Clinical Neurology
Kimberly L. Yan, Nerissa U. Ko, Steven W. Hetts, Shantel Weinsheimer, Adib A. Abla, Michael T. Lawton, Helen Kim
Summary: This study retrospectively analyzed 16 female patients who experienced BAVM hemorrhage during pregnancy. Most patients were in the second or third trimester, with 77% receiving emergent BAVM treatment at the time of hemorrhage. At the 2-year follow-up, 85% achieved good maternal outcomes, and all patients had uncomplicated deliveries without postnatal cognitive or developmental delays.
CEREBROVASCULAR DISEASES
(2021)
Article
Clinical Neurology
Sara Keranen, Santeri Suutarinen, Rahul Mallick, Johanna P. Laakkonen, Diana Guo, Ludmila Pawlikowska, Behnam Rezai Jahromi, Tuomas Rauramaa, Seppo Yla-Herttuala, Doug Marchuk, Timo Krings, Timo Koivisto, Michael Lawton, Ivan Radovanovic, Helen Kim, Marie E. Faughnan, Juhana Frosen
Summary: COX2 expression is found in the majority of bAVMs and is associated with inflammation, but not hemorrhage. Further studies are needed to understand the role of COX2 signaling in the pathobiology and clinical course of bAVMs.
ACTA NEUROCHIRURGICA
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Blaine L. Hart, Marc C. Mabray, Leslie Morrison, Kevin J. Whitehead, Helen Kim
Summary: Cerebrovascular malformations can arise through genetic and non-genetic pathways, often with additional symptoms. Understanding of genetic and molecular mechanisms is improving, leading to potential treatments. Some conditions are also linked to interactions with the intestinal microbiome.
Review
Endocrinology & Metabolism
Peipei Pan, Shantel Weinsheimer, Daniel Cooke, Ethan Winkler, Adib Abla, Helen Kim, Hua Su
Summary: Brain arteriovenous malformations (bAVM) are a significant cause of intracranial hemorrhage, especially in younger patients. The pathogenesis of bAVM remains largely unknown, but recent discoveries have identified potential therapeutic targets through studying genetic syndromes, animal models, and surgically resected specimens. Studies are currently underway to investigate new treatment options and potential therapeutic targets uncovered by these discoveries.
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM
(2021)
Article
Clinical Neurology
Ethan Winkler, David Wu, Eugene Gil, David McCoy, Kazim Narsinh, Zhengda Sun, Kerstin Mueller, Jayden Ross, Helen Kim, Shantel Weinsheimer, Mitchel Berger, Tomasz Nowakowski, Daniel Lim, Adib Abla, Daniel Cooke
Summary: This study used endoluminal biopsy and computational fluid dynamic modeling to investigate gene expression and blood flow-mediated transcriptional changes in patients with brain arteriovenous malformations (bAVMs). The results revealed similar gene expression profiles to tissues obtained through open surgery and identified potentially targetable abnormalities in the Ras-MAPK signaling pathway. This biopsy method could facilitate precision medicine approaches to bAVMs research.
Article
Multidisciplinary Sciences
Ethan A. Winkler, Chang N. Kim, Jayden M. Ross, Joseph H. Garcia, Eugene Gil, Irene Oh, Lindsay Q. Chen, David Wu, Joshua S. Catapano, Kunal Raygor, Kazim Narsinh, Helen Kim, Shantel Weinsheimer, Daniel L. Cooke, Brian P. Walcott, Michael T. Lawton, Nalin Gupta, Berislav Zlokovic, Edward F. Chang, Adib A. Abla, Daniel A. Lim, Tomasz J. Nowakowski
Summary: This study constructed a cell atlas of the adult human cerebrovasculature using transcriptomic data of cerebrovascular cells. The cellular and molecular perturbations in brain arteriovenous malformations were investigated, revealing abnormal vascular patterning and inflammation associated with the disease.
Article
Clinical Neurology
Kevin N. Sheth, Christopher D. Anderson, Alessandro Biffi, Nomazulu Dlamini, Guido J. Falcone, Christine K. Fox, Heather J. Fullerton, Steven M. Greenberg, J. Claude Hemphill, Anthony Kim, Helen Kim, Nerissa U. Ko, Jarod L. Roland, Lauren H. Sansing, Susanne J. van Veluw, Jonathan Rosand
Article
Clinical Neurology
Joseph H. Garcia, Caleb Rutledge, Ethan A. Winkler, Luis Carrete, Ramin A. Morshed, Alex Y. Lu, Satvir Saggi, Christine K. Fox, Heather J. Fullerton, Helen Kim, Daniel L. Cooke, Steven W. Hetts, Michael T. Lawton, Nalin Gupta, Adib A. Abla
Summary: Pediatric brain arteriovenous malformations (AVMs) are a leading cause of spontaneous intracranial hemorrhage (SICH) in children. This study validates the recently created Ruptured Arteriovenous Malformation Grading Scale (RAGS) in a cohort of pediatric patients with AVMs, and demonstrates that the RAGS score outperforms other clinical grading scales in predicting clinical outcomes.
JOURNAL OF NEUROSURGERY-PEDIATRICS
(2022)
Article
Multidisciplinary Sciences
Jillian L. Cardinell, Joel M. Ramjist, Chaoliang Chen, Weisong Shi, Nhu Q. Nguyen, Tiffany Yeretsian, Matthew Choi, David Chen, Dewi S. Clark, Anne Curtis, Helen Kim, Marie E. Faughnan, Victor X. D. Yang
Summary: This study utilizes optical coherence tomography (OCT) to image and quantitatively characterize dermal HHT lesions in order to understand the dynamic processes of the disease. Refined metrics specifically tailored for HHT were developed based on a pilot study and presented alongside preliminary results in this paper. The use of this imaging modality provides a non-invasive and efficient method to analyze and understand HHT lesions.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, General & Internal
Peter B. Sporns, Heather J. Fullerton, Sarah Lee, Helen Kim, Warren D. Lo, Mark T. Mackay, Moritz Wildgruber
Summary: This Primer provides an overview of the mechanisms, epidemiology, diagnosis and treatment of stroke in children. Childhood stroke is a significant cause of neurological damage and survivors often carry lifelong neurological deficits. While progress has been made in pediatric stroke research, the evidence for interventions, such as rapid reperfusion therapies, remains limited and delays in diagnosis and treatment continue to pose challenges.
NATURE REVIEWS DISEASE PRIMERS
(2022)
Letter
Respiratory System
Theodora Ananiadis, Marie E. Faughnan, Dewi Clark, Vikram Prabhudesai, Helen Kim, Michael T. Lawton, Nicholas T. Vozoris
ANNALS OF THE AMERICAN THORACIC SOCIETY
(2022)
Article
Clinical Neurology
Joshua S. Catapano, Fabio A. Frisoli, Candice L. Nguyen, Mohamed A. Labib, Tyler S. Cole, Jacob F. Baranoski, Helen Kim, Robert F. Spetzler, Michael T. Lawton
Summary: Analyzing surgically treated Supp-SM intermediate-grade AVM patients from 2011 to 2018, the study found that patients with Supp-SM grade 7 had worse postoperative neurological outcomes, while those with grade 6 did not show improvement during surgery.
JOURNAL OF NEUROSURGERY
(2022)
Article
Clinical Neurology
Sen Gao, Jeffrey Nelson, Shantel Weinsheimer, Ethan A. Winkler, Caleb Rutledge, Adib A. Abla, Nalin Gupta, Joseph T. Shieh, Daniel L. Cooke, Steven W. Hetts, Tarik Tihan, Christopher P. Hess, Nerissa Ko, Brian P. Walcott, Charles E. McCulloch, Michael T. Lawton, Hua Su, Ludmila Pawlikowska, Helen Kim
Summary: This study confirmed the high prevalence of somatic KRAS mutations in sporadic BAVM lesions and identified several candidate somatic variants in other MAPK pathway genes. These somatic variants may contribute to understanding the etiology of sporadic BAVM and the clinical characteristics of patients with this condition.
JOURNAL OF NEUROSURGERY
(2022)