Review
Genetics & Heredity
Qinjun Yang, Wanqiu Huang, Dandan Yin, Lu Zhang, Yating Gao, Jiabing Tong, Zegeng Li
Summary: The EPHX1 rs1051740 and GSTP1 rs1695 gene polymorphisms may increase the risk of COPD in Asians and Caucasians, while the EPHX1 rs2234922 gene polymorphism may protect Asians against COPD. The GSTP1 rs1138272 gene polymorphism may increase the risk of COPD, especially among Caucasians.
FRONTIERS IN GENETICS
(2023)
Article
Environmental Sciences
Mona M. Taha, Eman M. Shahy, Heba Mahdy-abdallah
Summary: The study evaluated the association between EPHX1 gene polymorphisms and changes in antioxidant status among wood dust exposed workers. Results showed a significant reduction in enzymatic antioxidants levels and a rise in MIP-2 levels in the worker group. Variations in EPHX polymorphisms affected SOD, CAT, and GPx levels as well as MIP-2 production.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2021)
Review
Immunology
Ju Zou, Yixiang Zheng, Yan Huang, Daolin Tang, Rui Kang, Ruochan Chen
Summary: The gasdermin family, including GSDMA, GSDMB, GSDMC, GSDMD, GSDME/DNFA5, and PVJK/GSDMF, has specific structures and mechanisms of action. These proteins play roles in regulating cellular physiological and pathological processes such as cell differentiation, inflammation, and tumorigenesis.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Biology
Jeremie Gautheron, Christophe Morisseau, Wendy K. Chung, Jamila Zammouri, Martine Auclair, Genevieve Baujat, Emilie Capel, Celia Moulin, Yuxin Wang, Jun Yang, Bruce D. Hammock, Barbara Cerame, Franck Phan, Bruno Feve, Corinne Vigouroux, Fabrizio Andreelli, Isabelle Jeru
Summary: Epoxide hydrolases play a crucial role in regulating cellular homeostasis by hydrolyzing epoxides to diols. Mutations in the EPHX1 gene can lead to protein aggregation and loss of activity, resulting in lipoatrophic diabetes. Knockout of EPHX1 affects adipocyte differentiation, insulin response, oxidative stress, and cellular senescence. Metreleptin therapy shows promising effects in patients with EPHX1 mutations.
Article
Genetics & Heredity
Ashlee Long, Hui Liu, Jian Liu, Michael Daniel, David M. Bedwell, Bruce Korf, Robert A. Kesterson, Deeann Wallis
Summary: This study investigates the functional consequences of 29 NF1 variant cDNAs, revealing variant-specific differences in neurofibromin protein levels and Ras signaling activity. The findings suggest that some variants may lead to NF1 gene or protein instability, while others may not functionally engage Ras. These assays could aid in categorizing variants by their effects and have potential implications for more targeted therapeutics in the future.
Letter
Immunology
Antony P. Black, Vilaysone Khounvisith, Kinnaly Xaydalasouk, Kong Sayasinh, Aurelie Sausy, Claude P. Muller, Judith M. Hubschen
Summary: During 2017-2019 in hospitals in Saravan Province, Laos, the seroprevalence of hepatitis C virus antibodies among patients aged 5-90 years was 11.7%, with viral RNA detected in 44 samples. Sequencing analysis revealed high genetic diversity within genotype 6. We recommend conducting exposure-risk investigations and implementing targeted testing and treatment.
EMERGING INFECTIOUS DISEASES
(2022)
Article
Biochemistry & Molecular Biology
Juan Luis Pacheco-Garcia, Ernesto Anoz-Carbonell, Dmitry S. Loginov, Daniel Kavan, Eduardo Salido, Petr Man, Milagros Medina, Angel L. Pey
Summary: Our knowledge on the genetic diversity of the human genome is increasing rapidly, but determining genotype-phenotype correlations requires a combination of experimental and computational work. Mutations in the disease-associated NQO1 protein can have unexpected functional effects, and even mutations predicted to be highly deleterious may have varied impacts on protein function. Current predictive tools and models struggle to explain these effects, reinforcing the idea that naturally occurring mutations can be highly damaging. Using a combination of biophysics and structural biology tools can improve our understanding of genotype-phenotype correlations and improve computational tools for predicting disease-prone variants.
Article
Biochemistry & Molecular Biology
Mathieu Quesnel-Vallieres, San Jewell, Kristen W. Lynch, Andrei Thomas-Tikhonenko, Yoseph Barash
Summary: Quantification of RNA splicing variations based on RNA-Sequencing can reveal tissue- and disease-specific splicing patterns. MAJIQlopedia is an encyclopedia of splicing variations that includes information from 86 human tissues and 41 cancer datasets. It provides a user-friendly interface that graphically represents the usage of splice junctions in different tissues or cancer types. Researchers can use MAJIQlopedia to understand splicing variations in genes of interest and tissue- or cancer-specific splice isoform usage.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Medicine, General & Internal
Yu Yu, Yingqiang Zhang, Yuzhu Dai, Qingyang Sun, Chun Jiang, Xujian Xu, Chuanzhong Mei, Jun Cheng
Summary: In this study, we detected HBsAg immune complex and sequenced the HBV S gene to investigate the association between sustained low-level expression of HBsAg and mutated S gene sequence characteristics. We found that there is a higher positive rate of HBsAg immune complex in the low-level HBsAg group, and there are correlations between HBsAg immune complex and HBsAg or HBV DNA. We also identified specific hot-spot mutations in the MHR of the S gene, which could affect the physicochemical properties and functions of HBsAg. Our findings suggest that these mutations may contribute to the formation of sustained low-level expression of HBsAg in HBV-infected individuals.
FRONTIERS IN MEDICINE
(2022)
Article
Urology & Nephrology
Titilayo O. Ilori, Jing Liu, Aylin R. Rodan, Ashish Verma, Katherine T. Mills, Jiang He, Cheryl A. Winkler, Josee Dupuis, Cheryl A. M. Anderson, Sushrut S. Waikar
Summary: The APOL1 genotypes can modify the association between dietary potassium and CKD progression. Higher urinary potassium excretion is associated with lower risk of CKD progression in individuals with high-risk APOL1 genotypes, and higher risk of CKD progression in individuals with low-risk APOL1 genotypes.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Genetics & Heredity
Pavel Dvorak, Vojtech Hanicinec, Pavel Soucek
Summary: Evidence shows that introns play a role in regulating the transfer of genetic information, with longer first introns found to be common in eukaryotic gene structure and containing conserved sequences and functional elements. Our study provides more precise information on the position of the longest introns in human protein-coding genes and their possible connection to biological function and gene expression. Results indicate that the longest introns are mainly located in the first and second thirds of introns, with peaks at the middle and last introns, and the median length decreases with increasing distance from the start of the gene.
FRONTIERS IN GENETICS
(2023)
Review
Biochemistry & Molecular Biology
Fei Hu, Ziyi Ye, Kui Dong, Weimeng Zhang, Da Fang, Jun Cao
Summary: Cupin superfamily proteins have extensive functions and play important roles in plant development and stress response. However, research on these proteins has been relatively neglected. This article summarizes recent research progress on Cupin family genes, including their evolution, structural characteristics, and biological functions. The significance of Cupin members in plant development and stress response is highlighted, and the potential application of Cupin proteins in crop enhancement is introduced. The findings will provide a foundation for future effective crop research and breeding.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2023)
Article
Biochemistry & Molecular Biology
Dawn M. Coleman, Yu Wang, Min-Lee Yang, Kristina L. Hunker, Isabelle Birt, Ingrid L. Bergin, Jun Z. Li, James C. Stanley, Santhi K. Ganesh
Summary: NF-1-related RVH in children is rare but often severe and progressive, with histologic and molecular features consistent with an aggressive adverse vascular remodeling process. Further research is necessary to define the mechanisms underlying these findings.
HUMAN MOLECULAR GENETICS
(2022)
Article
Dermatology
Stefanie J. Hyldahl, Mounir Q. El-Jaji, Annette Schuster, Anette Drohse Kjeldsen
Summary: This study described the distribution and morphology of telangiectatic lesions in HHT patients. Results showed that the lesions were typically round and flat, but could also be elevated or elongated. Patients with HHT1 had more lesions in the mucosa.
INTERNATIONAL JOURNAL OF DERMATOLOGY
(2022)
Article
Immunology
Ismail Hossain, Jannatul Ferdous Subarna, Congriev Kumar Kabiraj, Jahan Ara Begum, Rokshana Parvin, Mathias Martins, Diego G. Diel, Emdadul Haque Chowdhury, Mohammad Rafiqul Islam, Mohammed Nooruzzaman
Summary: Despite vaccination efforts in Bangladesh, Newcastle disease outbreaks continue to occur. This study compared the efficacy of three different booster vaccines in chickens that were previously primed with the LaSota vaccine. The results showed that the genotype-matched inactivated booster vaccine provided complete clinical protection and a significant reduction in virus shedding.
Article
Nutrition & Dietetics
Elom K. Aglago, Ana-Lucia Mayen, Viktoria Knaze, Heinz Freisling, Veronika Fedirko, David J. Hughes, Li Jiao, Anne Kirstine Eriksen, Anne Tjonneland, Marie-Christine Boutron-Ruault, Joseph A. Rothwell, Gianluca Severi, Rudolf Kaaks, Verena Katzke, Matthias B. Schulze, Anna Birukov, Domenico Palli, Sabina Sieri, Maria Santucci de Magistris, Rosario Tumino, Fulvio Ricceri, Bas Bueno-de-Mesquita, Jeroen W. G. Derksen, Guri Skeie, Inger Torhild Gram, Torkjel Sandanger, J. Ramon Quiros, Leila Lujan-Barroso, Maria-Jose Sanchez, Pilar Amiano, Maria-Dolores Chirlaque, Aurelio Barricarte Gurrea, Ingegerd Johansson, Jonas Manjer, Aurora Perez-Cornago, Elisabete Weiderpass, Marc J. Gunter, Alicia K. Heath, Casper G. Schalkwijk, Mazda Jenab
Summary: The study found a negative association between dietary advanced glycation end-products (dAGEs) and colorectal cancer risk, contrary to initial hypotheses. More research is needed to confirm these results and better understand the exact role of these substances in the development of colorectal cancer.
Article
Biochemistry & Molecular Biology
Karolina Seborova, Alzbeta Kloudova-Spalenkova, Kamila Koucka, Petr Holy, Marie Ehrlichova, Changwei Wang, Iwao Ojima, Iveta Voleska, Petr Daniel, Kamila Balusikova, Michael Jelinek, Jan Kovar, Lukas Rob, Martin Hruda, Marcela Mrhalova, Pavel Soucek, Radka Vaclavikova
Summary: This study investigated the gene expression changes of ABCC3, CPS1, and TRIP6 in highly resistant ovarian carcinoma cells, revealing that combining Stony Brook taxanes with paclitaxel led to downregulation of CPS1. The overexpression of CPS1 may serve as a prognostic biomarker for poor survival in epithelial ovarian carcinoma patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Food Science & Technology
Petr Pavek, Jan Dusek, Tomas Smutny, Lukas Lochman, Radim Kucera, Josef Skoda, Lucie Smutna, Rajamanikkam Kamaraj, Pavel Soucek, Radim Vrzal, Zdenek Dvorak
Summary: This study suggests that VDR or vitamin D supplementation is unlikely to significantly influence liver detoxification enzymes apart from CYP3A4.
MOLECULAR NUTRITION & FOOD RESEARCH
(2022)
Article
Nutrition & Dietetics
Ziling Mao, Elom K. Aglago, Zhiwei Zhao, Casper Schalkwijk, Li Jiao, Heinz Freisling, Elisabete Weiderpass, David J. Hughes, Anne Kirstine Eriksen, Anne Tjonneland, Gianluca Severi, Joseph Rothwell, Marie-Christine Boutron-Ruault, Verena Katzke, Rudolf Kaaks, Matthias B. Schulze, Anna Birukov, Vittorio Krogh, Salvatore Panico, Rosario Tumino, Fulvio Ricceri, H. Bas Bueno-de-Mesquita, Roel C. H. Vermeulen, Inger T. Gram, Guri Skeie, Torkjel M. Sandanger, J. Ramon Quiros, Marta Crous-Bou, Maria-Jose Sanchez, Pilar Amiano, Maria-Dolores Chirlaque, Aurelio Barricarte Gurrea, Jonas Manjer, Ingegerd Johansson, Aurora Perez-Cornago, Mazda Jenab, Veronika Fedirko
Summary: The study found that pre-diagnostic dietary intakes of AGEs were not associated with colorectal cancer (CRC) patients' specific or all-cause mortality. However, in CRC patients without diabetes, there may be a positive association between AGEs and all-cause mortality or CRC-specific mortality. Further research using AGE biomarkers and stratifying by sex, diabetes status, and timing of exposure to AGEs is warranted.
Article
Oncology
Ye Lu, Manuel Gentiluomo, Angelica Macauda, Domenica Gioffreda, Maria Gazouli, Maria C. Petrone, Dezso Kelemen, Laura Ginocchi, Luca Morelli, Konstantinos Papiris, William Greenhalf, Jakob R. Izbicki, Vytautas Kiudelis, Beatrice Mohelnikova-Duchonova, Bas Bueno-de-Mesquita, Pavel Vodicka, Hermann Brenner, Markus K. Diener, Raffaele Pezzilli, Audrius Ivanauskas, Roberto Salvia, Andrea Szentesi, Mateus Nobrega Aoki, Balazs C. Nemeth, Cosimo Sperti, Krzysztof Jamroziak, Roger Chammas, Martin Oliverius, Livia Archibugi, Stefano Ermini, Janos Novak, Juozas Kupcinskas, Ondrej Strouhal, Pavel Soucek, Giulia M. Cavestro, Anna C. Milanetto, Giuseppe Vanella, John P. Neoptolemos, George E. Theodoropoulos, Hanneke W. M. van Laarhoven, Andrea Mambrini, Stefania Moz, Zdenek Kala, Martin Lovecek, Daniela Basso, Faik G. Uzunoglu, Thilo Hackert, Sabrina G. G. Testoni, Viktor Hlavac, Angelo Andriulli, Maurizio Lucchesi, Francesca Tavano, Silvia Carrara, Peter Hegyi, Paolo G. Arcidiacono, Olivier R. Busch, Rita T. Lawlor, Marta Puzzono, Ugo Boggi, Feng Guo, Ewa Malecka-Panas, Gabriele Capurso, Stefano Landi, Renata Talar-Wojnarowska, Oliver Strobel, Xin Gao, Yogesh Vashist, Daniele Campa, Federico Canzian
Summary: In this study, a re-analysis of pancreatic cancer GWAS data identified six SNPs associated with pancreatic cancer risk under a recessive genetic model. The results suggest the importance of considering non-additive genetic models in GWAS analysis and provide potential candidates for further meta-analysis to improve polygenic risk scores for pancreatic cancer. Additional bioinformatic analysis revealed a possible relationship between specific SNPs and genes known to be involved in pancreatic biology.
FRONTIERS IN ONCOLOGY
(2021)
Article
Chemistry, Physical
Jaroslav Zenisek, Pavel Ondracka, Jan Cencnal, Pavel Soucek, David Holec, Petr Vasina
Summary: This paper critically evaluates the applicability of a procedure proposed by Mirzaei et al. (Surf. Coat. Technol. 358, 2019) for fitting the XPS spectrum of amorphous W-B-C material. The authors show that W-W bonds significantly influence the positions of peak components, which has implications for the correct interpretation of measured XPS spectra. Their analysis confirms expected chemical shifts caused by W-B and W-C bonds and reveals the same directional shift of W-W bonds and W-B bonds in the W 4f electronic states.
APPLIED SURFACE SCIENCE
(2022)
Article
Materials Science, Coatings & Films
Michael Kroker, Pavel Soucek, Marta Slapanska, Vjaceslav Sochora, Mojmir Jilek, Petr Vasina
Summary: Computational methods have gained attention in industrial magnetron sputtering for their ability to predict coating composition and deposition rates. This study used SDTrimSP and SiMTra to simulate the deposition process of industrially sputtered W-B-C coatings. The research discovered a correlation between the chemical composition and target segment placement, as well as the impact of substrate movement on composition. Simulations revealed different particle trajectories and explained the nanolayering observed in the non-reactively deposited coatings.
SURFACE & COATINGS TECHNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Petr Holy, Viktor Hlavac, Pavel Ostasov, Veronika Brynychova, Renata Kozevnikovova, Marketa Trnkova, Katorina Kopeckova, Sona Mestakova, Marcela Mrhalova, Pavel Soucek
Summary: This study investigates the association between oxysterol-related genes and breast cancer patients. Germline variants in certain genes were found to be associated with the survival of patients, while somatic variants in other genes were associated with a poor prognosis. However, these associations did not remain significant after correction for multiple tests. The study suggests further exploration of these genes in combination with gene expression and epigenomic data.
Article
Nutrition & Dietetics
Maryam Mukhtar, Niall Ashfield, Ludmila Vodickova, Veronika Vymetalkova, Miroslav Levy, Vaclav Liska, Jan Bruha, Petra Bendova, Jacintha O'Sullivan, Glen Doherty, Kieran Sheahan, Blathnaid Nolan, Pavel Vodicka, David J. Hughes
Summary: Selenoprotein gene variations may contribute to the development of colorectal cancer, but the specific variants may vary across populations.
Article
Oncology
Veronika Skarkova, Barbora Vitovcova, Petra Matouskova, Monika Manethova, Petra Kazimirova, Adam Skarka, Veronika Brynychova, Pavel Soucek, Hana Vosmikova, Emil Rudolf
Summary: The role of N-cadherin expression in epithelial-to-mesenchymal transition (EMT) and aggressive tumor colon cancer cell phenotype was investigated. It was found that artificially increased N-cadherin expression has limited reprogramming potential, while naturally elevated N-cadherin expression in colon cancer cells leads to an aggressive and chemoresistant phenotype.
Article
Biology
Viktor Hlavac, Petr Holy, Radka Vaclavikova, Lukas Rob, Martin Hruda, Marcela Mrhalova, Petr Cernaj, Jiri Bouda, Pavel Soucek
Summary: This study highlights the importance of somatic mutations in TP53 and Hippo pathway genes in predicting platinum resistance and prognosis in patients with epithelial ovarian carcinoma (EOC). Understanding the genetic landscape of EOC subgroups can provide valuable insights for precision oncology.
LIFE SCIENCE ALLIANCE
(2022)
Article
Oncology
Matteo Giaccherini, Riccardo Farinella, Manuel Gentiluomo, Beatrice Mohelnikova-Duchonova, Emanuele Federico Kauffmann, Matteo Palmeri, Faik Uzunoglu, Pavel Soucek, Dalius Petrauskas, Giulia Martina Cavestro, Romanas Zykus, Silvia Carrara, Raffaele Pezzilli, Marta Puzzono, Andrea Szentesi, John Neoptolemos, Livia Archibugi, Orazio Palmieri, Anna Caterina Milanetto, Gabriele Capurso, Casper H. J. van Eijck, Hannah Stocker, Rita T. Lawlor, Pavel Vodicka, Martin Lovecek, Jakob R. Izbicki, Francesco Perri, Rita Kupcinskaite-Noreikiene, Mara Gotz, Juozas Kupcinskas, Tamas Hussein, Peter Hegyi, Olivier R. Busch, Thilo Hackert, Andrea Mambrini, Hermann Brenner, Maurizio Lucchesi, Daniela Basso, Francesca Tavano, Ben Schottker, Giuseppe Vanella, Stefania Bunduc, Agota Petranyi, Stefano Landi, Luca Morelli, Federico Canzian, Daniele Campa
Summary: This study analyzed the common genetic variability of PDAC familial genes and found that the CDKN2B-AS1/ANRIL gene located in the 9p21.3 region plays an important role in the development of PDAC. The results strongly support the association between genetic variability in the 9p21.3 region and PDAC pathogenesis.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Biochemistry & Molecular Biology
Dominika Flasarova, Katerina Urban, Ondrej Strouhal, Dusan Klos, Radmila Lemstrova, Pavel Dvorak, Pavel Soucek, Beatrice Mohelnikova-Duchonova
Summary: DNA repair pathways are crucial for maintaining genome stability and understanding their regulation can contribute to the development of new treatment strategies, prevention of chemoresistance, and enhancement of patient survival in ovarian cancer. The study aimed to compare the expression levels of 84 genes involved in DNA repair pathways in tumors and peritoneal metastatic tissue of ovarian cancer patients treated with cytoreductive surgery and platinum-based HIPEC, in relation to patient survival, peritoneal carcinomatosis, treatment response, and alterations in BRCA1 and BRCA2 genes. The findings revealed significant gene interactions and correlations between gene expression and overall survival.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Pharmacology & Pharmacy
Viktor Hlavac, Petr Holy, Pavel Soucek
Summary: Sequencing exomes of synchronous and metachronous liver metastases of colorectal cancer has the potential to improve treatment outcomes by identifying distinct molecular profiles from primary tumors.
Review
Biochemistry & Molecular Biology
Bhavana Hemantha Rao, Pavel Soucek, Viktor Hlavac
Summary: The heterogeneity of pancreatic cancer complicates cancer research, and traditional tissue analysis methods are no longer sufficient. The application of single-cell separation techniques helps researchers better understand specific cell populations in pancreatic cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Xiangge Meng, Chengping Li, Yu Hei, Xiang Zhou, Guoli Zhou
Summary: The study used IVT-SAPAS sequencing to analyze the dynamic changes of APA sites during adipogenesis in bovine subcutaneous preadipocytes and intramuscular preadipocytes. The results showed that APA plays an important role in adipocyte differentiation, and UTR-APA switching genes have different trends, with intramuscular preadipocytes tending to use shorter 3'UTR for differentiation. TRIB3, WWTR1, and INSIG1 play important roles in intramuscular preadipocyte differentiation.
Article
Genetics & Heredity
S. Alizadeh, S. Khamse, N. Tajeddin, H. R. Khorram Khorshid, A. Delbari, M. Ohadi
Summary: This study identifies a specific genotype at a CG-rich trinucleotide short tandem repeat (STR) locus that is associated with late-onset neurocognitive disorders such as Alzheimer's disease (AD).
Article
Genetics & Heredity
Shougang Liu, Zhe Zhuang, Fanghua Liu, Xiuqing Yuan, Zeqiao Zhang, Xiaoqian Liang, Xinhui Li, Yongfeng Chen
Summary: This study investigated the effect and mechanism of RPL9 and TIFA in scalp psoriasis, and identified RPL9 as a potential therapeutic target for scalp psoriasis.
Article
Genetics & Heredity
Shiting Wang, Jiaqi Chen, Zhichao Jin, Ying Xing, Ruiping Wang
Summary: This study suggests a causal association between hair color and skin cancers, with light hair colors (red, blonde, and light brown) being associated with an increased risk and dark brown hair being associated with a decreased risk.
Article
Genetics & Heredity
Joseph Hawadak, Loick Pradel Kojom Foko, Rodrigue Roman Dongang Nana, Karmveer Yadav, Veena Pande, Aparup Das, Vineeta Singh
Summary: This study investigates the genetic diversity and natural selection of the Pfama-1 gene in Plasmodium falciparum isolates from Cameroon. The study finds a considerable nucleotide and haplotype diversity, as well as specific mutations in Cameroonian isolates. Positive diversifying selection and the identification of selected codon sites suggest the potential implication of these genetic variations in host immune pressure and parasite-binding complex modulation. The findings provide valuable baseline data for malaria vaccine design.
Article
Genetics & Heredity
Emily Biernat, Mansi Verma, Chhabi K. Govind
Summary: RSC is an essential ATP-dependent chromatin remodeling complex in Saccharomyces cerevisiae. It regulates nucleosome-depleted regions (NDRs) by sliding flanking nucleosomes away from NDRs. Depletion of RSC leads to nucleosome encroachment in NDRs and transcription initiation defects. The study compared the effects of catalytic-dead Sth1 and rapid depletion of Sth1 on transcription. Rapid depletion of Sth1 reduces recruitment of TBP and Pol II, while the catalytic-dead mutant exhibits a severe reduction in TBP binding but accumulates Pol II in coding regions. The results suggest a role for RSC in transcription elongation and termination processes.
Article
Genetics & Heredity
Yunxiao Wei, Yuhan Song, Muhammad Aamir Khan, Chengzhen Liang, Zhigang Meng, Yuan Wang, Sandui Guo, Rui Zhang
Summary: This study analyzed the GhTPP protein family in upland cotton for the first time and identified the important role of GhTPPA_2 in regulating sugar metabolism, improving soluble sugar accumulation, and drought stress tolerance.
Article
Genetics & Heredity
Yannan Geng, Rui Shao, Tiantong Xu, Lilong Zhang
Summary: A novel risk model based on SCUBE3, TNNC1, SPON1, SEPT12 and ULBP1 genes was developed for predicting PMOP risk, with higher risk score indicating higher risk of suffering from PMOP. Significant differences in signaling pathway activities were observed between the high-risk score group and the low-risk score group.
Article
Genetics & Heredity
Randy P. Williams, Corina Lesseur, Haoxiang Cheng, Qian Li, Maya Deyssenroth, Christopher D. Molteno, Ernesta M. Meintjes, Sandra W. Jacobson, Joseph L. Jacobson, Helen Wainwright, Ke Hao, Jia Chen, R. Colin Carter
Summary: The study suggests that heavy alcohol exposure during pregnancy may impact the proportion of fetal placental villi macrophages and increase the expression of inflammatory genes. Further research is needed to explore these effects and evaluate the potential functional roles of placental inflammation in FASD.
Article
Genetics & Heredity
Lvjing Luo, Lishuang Sun, Shu Li, Huiting Liu, Zhengyu Chen, Shi Huang, Yinyin Mo, Genliang Li
Summary: This study analyzed the expression of Ptpn1 and miR-124-3p in testicular tissues of mice and investigated their regulatory relationship. The results showed that Ptpn1 expression was up-regulated in adult mouse testis compared to juvenile mouse testis, while miR-124-3p expression showed an opposite pattern. Further analysis suggested that the down-regulation of miR-124-3p may contribute to the high expression of Ptpn1 in adult mouse testis.
Article
Genetics & Heredity
Gairui Li, Dan Zhao, Xiaolin Peng, Yashuang Zhao
Summary: MiRNA-22 shows potential as a candidate for early diagnosis of colorectal cancer (CRC). The study found higher miR-22 expression levels in the CRC and CRA groups, suggesting its potential as a biomarker for CRC early screening.
Article
Genetics & Heredity
Zhongqiu Zhu, Qianting Yang, Xiaoying Tian, Da Man, Jian Wang, Junfang Zhang, Bingshe Han
Summary: This study constructed a ceRNA network mediated by lncRNAs in cold-acclimated zebrafish ZF4 cells and revealed that upregulation of MSTRG3207 promotes apoptosis by sponging dre-miR-736 during cold acclimation.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.
