Article
Rheumatology
Yiming Luo, Marcela A. Ferrada, Keith A. Sikora, Cameron Rankin, Hugh D. Alessi, Daniel L. Kastner, Zuoming Deng, Mengqi Zhang, Peter A. Merkel, Virginia B. Kraus, Andrew S. Allen, Peter C. Grayson
Summary: This study suggests that rare variants in the DCBLD2 gene may play a role in the development of RP. These findings should be further validated in a larger sample and supported by functional experiments.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Medicine, General & Internal
Su-Jung Park, Narae Lee, Seong-Hee Jeong, Mun-Hui Jeong, Shin-Yun Byun, Kyung-Hee Park
Summary: The prevalence of genetic causes in SGA infants without known risk factors was 22%, and targeted-panel sequencing or whole-exome sequencing was effective in diagnosing the etiology of SGA infants without a known cause.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Hong Wu, Xinmin Zhang, Baohong Zhang, Karissa Adkins
Summary: Exome sequencing of cynomolgus macaques revealed a high genetic variation compared to humans. The ratio of non-synonymous to synonymous variants was similar between the two species. Understanding genetic variability in cynomolgus macaques will aid in interpreting and translating phenotypic variability to humans.
Article
Biochemistry & Molecular Biology
Raffaele Gaeta, Mariangela Morelli, Francesca Lessi, Chiara Maria Mazzanti, Michele Menicagli, Rodolfo Capanna, Lorenzo Andreani, Luca Coccoli, Paolo Aretini, Alessandro Franchi
Summary: This study aims to identify gene alterations in high-grade osteosarcoma (OS) patients using whole exome sequencing (WES) to find new potential prognostic biomarkers and therapeutic targets. Mutations in ARID1A, CREBBP, BRCA2 and RAD50 genes were found to be significantly correlated with poor response to neoadjuvant therapy and negatively influenced the progression-free survival time. Moreover, higher tumor mutational burden values were associated with worse prognosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Si-Han Lai, Ye-Cheng Li, Shan Zhang, Rui Deng, Yan Deng, Fang-Yi Fan
Summary: This study aimed to identify previously unidentified gene mutations and expression profiles associated with acute myeloid leukemia (AML) in a father-son pair. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) were performed, revealing novel AML-related genetic variations and gene expression differences. These findings provide new insights into the molecular events underlying the development of AML.
Article
Biochemistry & Molecular Biology
Adeline Germain, Jeanne-Marie Perotin, Gonzague Delepine, Myriam Polette, Gaetan Deslee, Valerian Dormoy
Summary: A comparative whole-exome sequencing analysis was performed on bronchial epithelia from COPD and non-COPD subjects, revealing genetic alterations and copy number variations in remodelled epithelia, mainly in COPD patients. Functional analysis highlighted cilia-associated processes, indicating a greater genetic alteration in remodelled epithelia.
Article
Medicine, Research & Experimental
Hong Lian, Shen Song, Wenzheng Chen, Anteng Shi, Haobin Jiang, Shengshou Hu
Summary: This study aimed to characterize the genetic basis of dilated cardiomyopathy (DCM) in heart transplantation (HTx) patients in the Chinese population. The results showed that TTN and FLNC genes harbored a significant number of pathogenic and likely pathogenic variants, and FLNC truncation could lead to severe clinical symptoms in DCM patients.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Oncology
Lihua Chen, Jiajia Li, Xiaohua Wu, Zhong Zheng
Summary: The study aimed to explore the genomic abnormalities associated with uterine leiomyosarcoma (uLMS) and identify potential therapeutic targets. Analysis revealed mutational heterogeneity of uLMS and highlighted the amplification of the SHARPIN gene as a candidate oncogene in uLMS.
FRONTIERS IN ONCOLOGY
(2021)
Article
Clinical Neurology
Fahri Kucukali, Alexander Neumann, Jasper Van Dongen, Tim De Pooter, Geert Joris, Peter De Rijk, Olena Ohlei, Valerija Dobricic, Isabelle Bos, Stephanie J. B. Vos, Sebastiaan Engelborghs, Ellen De Roeck, Rik Vandenberghe, Silvy Gabel, Karen Meersmans, Magda Tsolaki, Frans Verhey, Pablo Martinez-Lage, Mikel Tainta, Giovanni Frisoni, Oliver Blin, Jill C. Richardson, Regis Bordet, Philip Scheltens, Julius Popp, Gwendoline Peyratout, Peter Johannsen, Lutz Frolich, Yvonne Freund-Levi, Johannes Streffer, Simon Lovestone, Cristina Legido-Quigley, Mara Ten Kate, Frederik Barkhof, Henrik Zetterberg, Lars Bertram, Mojca Strazisar, Pieter Jelle Visser, Christine Van Broeckhoven, Kristel Sleegers
Summary: In this study, the association between rare genetic variation and AD-related biomarker traits was investigated. Several novel gene-trait associations were identified, shedding light on the role of rare coding variation in the pathophysiological processes of AD.
ALZHEIMERS & DEMENTIA
(2022)
Article
Hematology
Yupei Shen, Yan Zhang, Ying Xiong, Zhiping Zhang, Baohua Zhang, Aihong Li, Zhaofeng Zhang, Jing Ding, Jing Du, Yan Che
Summary: This study investigated genetic risk factors for venous thromboembolism (VTE) in pregnant women through a large-scale prospective cohort study. The findings suggest that the presence of known pathogenic variants, damaging variants in thrombophilia genes, and rare damaging variants are associated with VTE in pregnancies. Exome-wide association analysis identified several genes related to basement membranes, sterol accumulation, atherosclerosis, lipid metabolism, and coagulation deficiency as potential mechanisms of VTE in pregnancies.
THROMBOSIS RESEARCH
(2022)
Article
Health Care Sciences & Services
Sathishkumar Ramaswamy, Ruchi Jain, Maha El Naofal, Nour Halabi, Sawsan Yaslam, Alan Taylor, Ahmad Abou Tayoun
Summary: This article discusses the underrepresentation of genetic variation in populations of Middle Eastern origin in comprehensive genomic databases and establishes the Middle East Variation (MEV) database. High-impact coding variants in this database were absent from the most comprehensive Genome Aggregation Database (gnomAD), potentially impacting clinical variant interpretation. The study highlights variants with minor allele frequency >1% in the MEV database that were previously reported as rare disease variants. Additionally, the MEV database contains putative homozygous loss of function (LoF) variants that are absent from gnomAD, which could refine the clinical annotation of those regions.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Peng-Fei Xu, Cong Li, Shao-Yan Xi, Fu-Rong Chen, Jing Wang, Zhi-Qiang Zhang, Yan Liu, Xin Li, Zhong-Ping Chen
Summary: Branching evolution is widespread in the recurrent process of gliomas, and recurrent tumors continue to evolve independently with chemoradiotherapy, harboring multiple recurrenceselected genetic alterations. Truncal variants within partial driver genes among primary and recurrent gliomas may be ideal therapeutic targets.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Article
Oncology
Weifeng Liu, Renxian Wang, Yanrui Zhang, Huina Wang, Zhen Huang, Tao Jin, Yongkun Yang, Yang Sun, Shanbo Cao, Xiaohui Niu
Summary: In this study, the genomic profiles of 33 osteosarcoma patients were analyzed, revealing the potential roles of the MAPK and PI3K-Akt signaling pathways in determining prognosis. Significant differences in somatic copy number alterations and mutation sites and frequencies were observed between patients with good and poor prognosis. Patients with poor prognosis may have access to a larger number of treatment options based on the frequency of potentially actionable alterations.
Article
Oncology
Ning Tang, Zhenzhen Li, Xiao Han, Chenglong Zhao, Jun Guo, Haiyong Wang
Summary: This study analyzed whole-exome sequencing data to explore the differences in mutational characteristics, gene expression, and chromosomal instability between chemorefractory and chemosensitive small cell lung cancer (SCLC) patients. A classifier was developed to predict treatment response and recurrence risk, providing a reference basis for personalized treatment plans for Chinese SCLC patients.
FRONTIERS IN ONCOLOGY
(2022)
Article
Genetics & Heredity
Ya Liu, Meihua Tan, Luhang Cai, Lihui Lv, Qingqing Chen, Wei Chen, Hang Yang, Yaping Xu
Summary: In this study, whole-exome sequencing was used to investigate the genetic causes of severe-profound hearing loss in Chinese Han children. Several novel genes and variants associated with hearing loss were identified, expanding our understanding of the heterogeneity of hereditary hearing loss.
Article
Clinical Neurology
Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D. Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krueger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Sterbova, Petra Lassuthova, Marketa Vlckova, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P. Y. Billie Au, Jong M. Rho, Alice W. Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina E. Hoei-Hansen, Pasquale Striano, Federico Zara, Helene Verhelst, Judith S. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva Brilstra, Manuela Pendziwiat, Sebastian Lebon, Maria Vaccarezza, Ngoc Minh Le, Jakob Christensen, Sabine Gronborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard Leventer, Chloe Stutterd, Sonja Walsh, Marion Gerard, Benedicte Gerard, Sara Matricardi, Claudia M. Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman-Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vollo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cecilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gelisse, Carla Marini, Renzo Guerrini, Frederic Bilan, Daniel Tibussek, Margarete Koch-Hogrebe, M. Scott Perry, Shoji Ichikawa, Elena Dadali, Artem Sharkov, Irina Mishina, Mikhail Abramov, Ilya Kanivets, Sergey Korostelev, Sergey Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Muller-Schluter, Haim Bassan, Artem Borovikov, Marie-Cecile Nassogne, Anne Destree, An-Sofie Schoonjans, Marije Meuwissen, Marga Buzatu, Anna Jansen, Emmanuel Scalais, Siddharth Srivastava, Wen-Hann Tan, Heather E. Olson, Tobias Loddenkemper, Annapurna Poduri, Katherine L. Helbig, Ingo Helbig, Mark P. Fitzgerald, Ethan M. Goldberg, Timo Roser, Ingo Borggraefe, Tobias Brunger, Patrick May, Dennis Lal, Damien Lederer, Guido Rubboli, Henrike O. Heyne, Gaetan Lesca, Ulrike B. S. Hedrich, Jan Benda, Elena Gardella, Holger Lerche, Rikke S. Moller
Summary: This study provides detailed functional analyses and genotype-phenotype correlations in individuals carrying disease-causing variants in SCN8A. The results reveal the clinical phenotypes related to the functional effects and the correlation between the age at seizure onset, type of epilepsy, and the gain- or loss-of-function effects of SCN8A variants.
Review
Genetics & Heredity
Yana S. Slesarenko, Alexander V. Lavrov, Svetlana A. Smirnikhina
Summary: Base editors (BEs) are considered one of the most promising tools for correcting disease-causing mutations in humans, but some of them may lead to the formation of a large number of off-targets. By introducing mutations into the domains of deaminases or inhibiting Cas9, it is possible to significantly reduce the off-target activity of BEs.
Article
Biochemistry & Molecular Biology
Svetlana V. Kostyuk, Elena V. Proskurnina, Marina S. Konkova, Margarita S. Abramova, Andrey A. Kalianov, Elizaveta S. Ershova, Vera L. Izhevskaya, Sergey I. Kutsev, Natalia N. Veiko
Summary: This study found that low-dose ionizing radiation and oxidized cell-free DNA can both upregulate mitochondrial gene expression in mesenchymal stem cells, which in turn affects the function of mitochondrial respiratory chain complexes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Pavel E. Umriukhin, Elizaveta S. Ershova, Anton D. Filev, Oksana N. Agafonova, Andrey V. Martynov, Natalia V. Zakharova, Roman V. Veiko, Lev N. Porokhovnik, George P. Kostyuk, Sergey I. Kutsev, Natalia N. Veiko, Svetlana V. Kostyuk
Summary: This study investigated the dynamic changes in repeat sequence contents associated with psychoemotional stress in human leukocytes. The findings showed that psychoemotional stress triggers oxidative stress response and leads to changes in repeat sequence contents. These changes are similar to those observed in patients with schizophrenia during disease exacerbation.
Article
Biochemistry & Molecular Biology
Olga V. Volodina, Arina A. Anuchina, Milyausha I. Zainitdinova, Nadezhda A. Evtushenko, Alexander V. Lavrov, Svetlana A. Smirnikhina
Summary: Gene editing allows targeted changes in the genome, potentially treating hereditary diseases. However, the effectiveness of gene editing methods in correcting mutations is still low. This study proposes the design of single-stranded oligodeoxyribonucleotides to improve the efficiency of gene editing, providing insights for developing gene therapy for hereditary diseases.
BIOCHEMISTRY-MOSCOW
(2022)
Article
Biochemistry & Molecular Biology
Elena Zinina, Maria Bulakh, Alena Chukhrova, Oksana Ryzhkova, Peter Sparber, Olga Shchagina, Aleksander Polyakov, Sergey Kutsev
Summary: In Russia, a selective screening program for DMD/BMD has been carried out, which revealed certain differences in the mutation spectrum of the DMD gene among Russian patients. The accurate mutation type plays a crucial role in determining specific therapeutic methods for patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Elena Kondratyeva, Anna Efremova, Yuliya Melyanovskaya, Anna Voronkova, Alexander Polyakov, Nataliya Bulatenko, Tagui Adyan, Viktoriya Sherman, Valeriia Kovalskaia, Nika Petrova, Marina Starinova, Tatiana Bukharova, Sergei Kutsev, Dmitry Goldshtein
Summary: This study evaluated the frequency of the [L467F;F508del] complex allele in Russian cystic fibrosis patients and found that it is present in 8.2% of homozygous F508del patients. Although patients with the F508del/[L467F;F508del] genotype have a severe disease course and lower CFTR channel function, targeted therapy with a combination of ivacaftor + tezacaftor + elexacaftor medication is recommended.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell & Tissue Engineering
Irina Panchuk, Ekaterina Kondrateva, Anna Demchenko, Olga Grigorieva, Anastasija Erofeeva, Elena Amelina, Vyacheslav Tabakov, Maria Orlova, Ekaterina Voronina, Victoria Pozhitnova, Alexander Lavrov, Svetlana Smirnikhina, Sergey Kutsev
Summary: Induced pluripotent stem cells (iPSCs) were successfully generated from skin fibroblasts obtained from cystic fibrosis patients using the non-integrating, viral CytoTuneT (TM)-iPS 2.0 Sendai Reprogramming Kit, which contains three vectors: polycistronic Klf4-Oct3/4-Sox2, cMyc, and Klf4. The created iPSC lines had a normal karyotype, expressed pluripotency markers, and demonstrated the potential to differentiate into three germ layers in spontaneous differentiation assays.
STEM CELL RESEARCH
(2022)
Review
Genetics & Heredity
Ivan Y. Iourov, Svetlana G. Vorsanova, Oxana S. Kurinnaia, Sergei Kutsev, Yuri B. Yurov
Summary: It is important to recognize the genomic variability of cells in the human brain, as it has been found to play a role in brain diseases. However, brain-specific genetic variations are often overlooked in the study of genetic defects associated with the brain. Therefore, a review of brain-specific somatic mosaicism in the context of disease is needed.
MOLECULAR CYTOGENETICS
(2022)
Article
Genetics & Heredity
Tatiana Markova, Vladimir Kenis, Evgenii Melchenko, Aynur Alieva, Tatiana Nagornova, Anna Orlova, Natalya Ogorodova, Olga Shchagina, Alexander Polyakov, Elena Dadali, Sergey Kutsev
Summary: This study investigated the clinical and genetic characteristics of patients with MED type 4 caused by variants in the SLC26A2 gene. Two main phenotypes and three common pathogenic variants were identified, providing important insights for the molecular genetic diagnosis of MED type 4.
Meeting Abstract
Biochemistry & Molecular Biology
Yana Slesarenko, Alessya Bykonya, Arina Anuchina, Milyausha Zaynitdinova, Alexander Lavrov, Svetlana Smirnikhina
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Arina A. Anuchina, Milyausha I. Zaynitdinova, Anna G. Demchenko, Svetlana A. Smirnikhina, Alexander V. Lavrov
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Vitaly V. Kadyshev, Andrei V. Marakhonov, Inna V. Zolnikova, Sergey I. Kutsev, Rena A. Zinchenko
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Elmira P. Adilgereeva, Alex G. Nikitin, Diana G. Zheglo, Oleg A. Shukhov, Svetlana A. Smirnikhina, Alexander V. Lavrov, Ekaterina Y. Chelysheva, Anna G. Turkina, Sergey I. Kutsev
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
