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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
#22
Madison Caballero, F Kyle Satterstrom, Joseph D Buxbaum, Behrang Mahjani
Autism Spectrum Disorder (ASD) arises from complex genetic and environmental factors, with inherited genetic variation playing a substantial role. This study introduces a novel approach to uncover moderate effect size (MES) genes in ASD, which individually do not meet the ASD liability threshold but collectively contribute when paired with specific other MES genes. Analyzing 10,795 families from the SPARK dataset, we identified 97 MES genes forming 50 significant gene pairs, demonstrating a substantial association with ASD when considered in tandem, but not individually...
April 4, 2024: medRxiv
#23
JOURNAL ARTICLE
Seung Yeob Yu, Byeong Seob Oh, Seoung Woo Ryu, Jeong Eun Bak, Eun Seo Heo, Jeong Chan Moon, Jae-Ho Jeong, Ju Huck Lee
A novel Gram-negative, obligate anaerobe, non-motile, flagella-lacking, catalase- and oxidase-negative, coccobacilli-shaped bacterial strain designated AGMB02718T was isolated from swine feces. The 16S rRNA gene analysis indicated that strain AGMB02718T belonged to the genus Mesosutterella with the highest similarity to M. multiformis 4NBBH2T (= DSM 106860T ) (sequence similarity of 96.2%), forming a distinct phylogenetic lineage. Its growth occurred at 25-45°C (optimal 37°C) and in 0.5-1% NaCl (optimal 0...
2024: Frontiers in Microbiology
#24
JOURNAL ARTICLE
Xue Yang, Yongli Xie, Tian Wang, Youming Qiao, Junxi Li, Lingling Wu, Ying Gao
INTRODUCTION: Bacillus amyloliquefaciens DGL1, isolated from the arid sandy areas in Dagler, Qinghai Province, China, promotes the growth of Avena sativa variety "Qing Yan 1". METHODS: To elucidate the transcriptomic changes in the oat root system following interaction with DGL1 and to reveal the molecular mechanism by which DGL1 promotes oat growth, treatment and control groups of oat roots at 2, 4, 8, and 12 h after inoculation with a suspension of strain DGL1 were analyzed using Illumina high-throughput transcriptome sequencing technology...
2024: Frontiers in Microbiology
#25
JOURNAL ARTICLE
Jing Deng, Bilal Ahmad, Xuan Deng, Zelin Fan, Lianlian Liu, Xiuping Lu, Yu Pan, Xingfu Zha
Plant glycoside hydrolase family 9 genes (GH9s) are widely distributed in plants and involved in a variety of cellular and physiological processes. In the current study, nine GH9 genes were identified in the mulberry and were divided into two subfamilies based on the phylogenetic analysis. Conserved motifs and gene structure analysis suggested that the evolution of the two subfamilies is relatively conserved and the glycoside hydrolase domain almost occupy the entire coding region of the GH9s gene. Only segmental duplication has played a role in the expansion of gene family...
2024: Frontiers in Plant Science
#26
Lu Wang, Haiquan Xu, Jianbo Shu, Dandan Yan, Dong Li, Chunquan Cai
BACKGROUND: The gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epilepsy. Analysis of the clinical features and genetics of DEE45 may be helpful in complementing genotype-phenotype studies. CASE PRESENTATION: We collected peripheral blood samples from the affected children and parents and extracted genomic DNA...
2024: Frontiers in Pediatrics
#27
JOURNAL ARTICLE
Bing He, Tingyu Shan, Jingyao Xu, Xinxin Zhong, Jingjing Zhang, Rongchun Han, Qingshan Yang, Jiawen Wu
UNLABELLED: Acanthopanax gracilistylus is a deciduous plant in the family Araliaceae, which is commonly used in Chinese herbal medicine, as the root bark has functions of nourishing the liver and kidneys, removing dampness and expelling wind, and strengthening the bones and tendons. Kaurenoic acid (KA) is the main effective substance in the root bark of A. gracilistylus with strong anti-inflammatory effects. To elucidate the KA biosynthesis pathway, second-generation (DNA nanoball) and third-generation (Pacific Biosciences) sequencing were performed to analyze the transcriptomes of the A...
March 2024: Physiology and Molecular Biology of Plants: An International Journal of Functional Plant Biology
#28
JOURNAL ARTICLE
Weilong Gao, Jiangbo Nie, Jia Yao, Jianxin Wang, Shengshu Wang, Xueli Zhang, Yonghong Liu, Yulin Liu
UNLABELLED: The Cellulose Synthase gene ( CS ) superfamily and COBRA-like ( COBL ) gene family are essential for synthesizing cellulose and hemicellulose, which play a crucial role in cell wall biosynthesis and the hardening of plant tissues. Our study identified 126 ZbCS and 31 ZbCOBL genes from the Zanthoxylum bungeanum ( Zb ) genome. Phylogenetic analysis and conservative domain analysis unfolded that ZbCS and ZbCOBL genes were divided into seven and two subfamilies, respectively. Gene duplication data suggested that more than 75% of these genes had tandem and fragment duplications...
March 2024: Physiology and Molecular Biology of Plants: An International Journal of Functional Plant Biology
#29
JOURNAL ARTICLE
Shan Jiang, Weichao Ren, Lengleng Ma, Jianhao Wu, Xiaozhuang Zhang, Wei Wu, Lingyang Kong, Jiajun He, Wei Ma, Xiubo Liu
UNLABELLED: The gene family known as the Lateral Organ Boundary Domain ( LBD ) is responsible for producing transcription factors unique to plants, which play a crucial role in controlling diverse biological activities, including their growth and development. This research focused on examining Cerasus humilis ' ChLBD gene, owing to its significant ecological, economic, and nutritional benefits. Examining the ChLBD gene family's member count, physicochemical characteristics, phylogenetic evolution, gene configuration, and motif revealed 41 ChLBD gene family members spread across 8 chromosomes, with ChLBD gene's full-length coding sequences (CDSs) ranging from 327 to 1737 base pairs, and the protein sequence's length spanning 109 ( ChLBD30 )-579 ( ChLBD35 ) amino acids...
March 2024: Physiology and Molecular Biology of Plants: An International Journal of Functional Plant Biology
#30
JOURNAL ARTICLE
Xingguan Zhai, Xia Wang, Xunzhe Yang, Qingxiang Huang, Dandan Wu, Yi Wang, Houyang Kang, Lina Sha, Xing Fan, Yonghong Zhou, Haiqin Zhang
UNLABELLED: The basic helix-loop-helix (bHLH) transcription factor family is the second largest in plants. bHLH transcription factor is not only universally involved in plant growth and metabolism, including photomorphogenesis, light signal transduction, and secondary metabolism, but also plays an important role in plant response to stress. However, the function of bHLH TFs in Pseudoroegneria species has not been studied yet. Pseudoroegneria (Nevski) Á. Löve is a perennial genus of the Triticeae ...
March 2024: Physiology and Molecular Biology of Plants: An International Journal of Functional Plant Biology
#31
JOURNAL ARTICLE
Ahmed S Atwa, Lamis Gomaa, Wael Elmenofy, Haitham M Amer, Basem M Ahmed
BACKGROUND: Equine influenza (EI) is a transmissible viral respiratory sickness of the Equidae family. Two viruses, H7N7 and H3N8 caused EI; however, H7N7 has not been detected for decades. H3N8 has circulated and bifurcated into Eurasian and American lineages. The latter subsequently diversified into Kentucky, South America, and Florida sub-lineages. Florida clade 1 (FC1) and Florida clade 2 (FC2) strains are the only circulating EI viruses (EIVs) in the meantime. Immunization is considered the major means for the prevention and control of EI infection...
January 2024: Open Veterinary Journal
#32
JOURNAL ARTICLE
Susan L McEvoy, Patrick G S Grady, Nicole Pauloski, Rachel J O'Neill, Jill L Wegrzyn
DNA methylation is critical to the regulation of transposable elements and gene expression and can play an important role in the adaptation of stress response mechanisms in plants. Traditional methods of methylation quantification rely on bisulfite conversion that can compromise accuracy. Recent advances in long-read sequencing technologies allow for methylation detection in real time. The associated algorithms that interpret these modifications have evolved from strictly statistical approaches to Hidden Markov Models and, recently, deep learning approaches...
April 2024: Evolutionary Applications
#33
JOURNAL ARTICLE
Jia Luo, Weijing Wang, Jingxian Li, Haiping Duan, Chunsheng Xu, Xiaocao Tian, Dongfeng Zhang
Background: The decline in muscle strength and function with aging is well recognized, but remains poorly characterized at the molecular level. Here, we report the epigenetic relationship between genome-wide DNA methylation and handgrip strength (HGS) among Chinese monozygotic (MZ) twins. Methods: DNA methylation (DNAm) profiling was conducted in whole blood samples through Reduced Representation Bisulfite Sequencing method. Generalized estimating equation was applied to regress the DNAm of each CpG with HGS...
2024: Frontiers in Cell and Developmental Biology
#34
JOURNAL ARTICLE
Rebeca Alvariño, Amparo Alfonso, Jioji N Tabudravu, Jesús González-Jartín, Khalid S Al Maqbali, Marwa Elhariry, Mercedes R Vieytes, Luis M Botana
Psammaplins are sulfur containing bromotyrosine alkaloids that have shown antitumor activity through the inhibition of class I histone deacetylases (HDACs). The cytotoxic properties of psammaplin A ( 1 ), the parent compound, are related to peroxisome proliferator-activated receptor γ (PPARγ) activation, but the mechanism of action of its analogs psammaplin K ( 2 ) and bisaprasin ( 3 ) has not been elucidated. In this study, the protective effects against oxidative stress of compounds 1 - 3 , isolated from the sponge Aplysinella rhax , were evaluated in SH-SY5Y cells...
April 17, 2024: Journal of Natural Products
#35
JOURNAL ARTICLE
Annika Mårtensson, Anna Letelier, Eric Manderstedt, Heidi Glosli, Rolf Ljung
INTRODUCTION: Of newly diagnosed cases of haemophilia B, the proportion of sporadic cases is usually 50% of severe cases and 25% of moderate/mild cases. However, cases presumed to be sporadic due to family history may not always be sporadic. Few case reports have been published on mosaicism in haemophilia B. AIM: The present study aimed to trace the origin of the pathogenic variant in a well-defined cohort of sporadic cases of haemophilia B by haplotyping markers...
April 17, 2024: Haemophilia: the Official Journal of the World Federation of Hemophilia
#36
JOURNAL ARTICLE
Danning Xu, Siqi Zhuang, Hongzhi Chen, Mengjie Jiang, Ping Jiang, Qian Wang, Xuemei Wang, Ruohong Chen, Haoneng Tang, Lingli Tang
Interleukin-33 (IL-33), an emerging cytokine within the IL-1 family, assumes a pivotal function in the control of obesity. However, the specific mechanism of its regulation of obesity formation remains unclear. In this study, we found that the expression level of IL-33 increased in visceral adipose tissue in mice fed with a high-fat diet (HFD) compared with that in mice fed with a normal diet (ND). In vitro, we also found the expression level of IL-33 was upregulated during the adipogenesis of 3T3-L1 cells...
April 17, 2024: Journal of Translational Medicine
#37
JOURNAL ARTICLE
Zhi Zou, Yujiao Zheng, Lili Chang, Liangping Zou, Li Zhang, Yi Min, Yongguo Zhao
BACKGROUND: Tonoplast intrinsic proteins (TIPs), which typically mediate water transport across vacuolar membranes, play an essential role in plant growth, development, and stress responses. However, their characterization in tigernut (Cyperus esculentus L.), an oil-bearing tuber plant of the Cyperaceae family, is still in the infancy. RESULTS: In this study, a first genome-wide characterization of the TIP subfamily was conducted in tigernut, resulting in ten members representing five previously defined phylogenetic groups, i...
April 18, 2024: BMC Plant Biology
#38
JOURNAL ARTICLE
Dan Zuo, Shaolin Lei, Fang Qian, Lei Gu, Hongcheng Wang, Xuye Du, Tuo Zeng, Bin Zhu
BACKGROUND: Calcium-dependent protein kinases (CPKs) are crucial for recognizing and transmitting Ca2+ signals in plant cells, playing a vital role in growth, development, and stress response. This study aimed to identify and detect the potential roles of the CPK gene family in the amphidiploid Brassica carinata (BBCC, 2n = 34) using bioinformatics methods. RESULTS: Based on the published genomic information of B. carinata, a total of 123 CPK genes were identified, comprising 70 CPK genes on the B subgenome and 53 on the C subgenome...
April 17, 2024: BMC Plant Biology
#39
JOURNAL ARTICLE
Investigation of morpho-physiolgical traits and gene expression in barley under nitrogen deficiency.
Zohreh Hajibarat, Abbas Saidi, Habibollah Ghazvini, Zahra Hajibarat
Nitrogen (N) is an essential element for plant growth, and its deficiency influences plants at several physiological and gene expression levels. Barley (Hordeum vulgare) is one of the most important food grains from the Poaceae family and one of the most important staple food crops. However, the seed yield is limited by a number of stresses, the most important of which is the insufficient use of N. Thus, there is a need to develop N-use effective cultivars. In this study, comparative physiological and molecular analyses were performed using leaf and root tissues from 10 locally grown barley cultivars...
April 17, 2024: Scientific Reports
#40
JOURNAL ARTICLE
Chuanhui Sun, Hua Deng, Qiuying Li, Peng Wang, Yujiang Chen, Yanan Sun, Changsong Han
Transcriptional factor HOXB9, a part of the HOX gene family, plays a crucial role in the development of diverse cancer types. This study aimed to elucidate the regulatory mechanism of HOXB9 on the proliferation and invasion of laryngeal squamous cell carcinoma (LSCC) cells to provide guidance for the development and prognosis of LSCC. The CRISPR/Cas9 method was employed in LSCC cell lines to knock out the HOXB9 gene and validate its effects on the proliferation, migration, invasion, and regulation of LSCC cells...
April 18, 2024: Functional & Integrative Genomics
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