Venetoclax plus low-intensity chemotherapy for adults with acute lymphoblastic leukemia by Marlise R. Luskin, Shai Shimony, Julia Keating, Eric S. Winer, Jacqueline S. Garcia, Richard M. Stone, Elias Jabbour, Yael Flamand, Kristen Stevenson, Jeremy Ryan, Zhihong Zeng, Anthony Letai, Marina Konopleva, Nitin Jain, Daniel J. DeAngelo

“…Among patients with newly diagnosed ALL, 10 of 11 (90.9%) achieved a measurable residual disease–negative (<0.01% sensitivity) complete remission (CR) including 6 patients with hypodiploid TP53-mutated ALL. All patients in CR bridged to hematopoietic stem cell transplant (n = 9) or completed protocol (n = 1). …”
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A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly by Alba Escalera-Balsera, Paula Robles-Bolivar, Alberto M. Parra-Perez, Silvia Murillo-Cuesta, Han Chow Chua, Lourdes Rodríguez-de la Rosa, Julio Contreras, Ewa Domarecka, Juan Carlos Amor-Dorado, Andrés Soto-Varela, Isabel Varela-Nieto, Agnieszka J. Szczepek, Alvaro Gallego-Martinez, Jose A. Lopez-Escamez

“…Abstract Background Familial Meniere’s disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown. …”
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Association of ERAP1 and ERAP2 gene polymorphisms and ERAP2 protein with the susceptibility and severity of rheumatoid arthritis in the Ukrainian population by Iryna Kril, Iryna Kril, Andrzej Wiśniewski, Agnieszka Tarnowska, Khrystyna Lishchuk-Yakymovych, Yaryna Bojko, Piotr Kuśnierczyk, Valentyna V. Chopyak, Izabela Nowak

“…ERAP1 rs26653 and ERAP2 rs2248374 were also associated with the Disease Activity Score (DAS28), and some polymorphisms were also associated with anti-citrullinated protein or anti-mutated citrullinated vimentin antibodies. RA patients secreted higher concentrations of ERAP2 than controls. …”
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Can Ethiopia eliminate malaria? Malaria burden: insights from the pre-elimination era, current challenges and perspectives by Dagmawi Woldesenbet, Yalewayker Tegegne, Abdulhakim Mussema, Elias Tamene, Kemal Mohamed, Wagaw Abebe, Melese Mekuria, Kasahun Bogale, Habtamu Geremew, Mufta Muzemil Shifa, Mulugeta Aemero Tegegne

“…Factors contributing to this resurgence include emerging drug resistance, insecticide resistance, and genetic mutations such as single nucleotide polymorphisms. …”
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Vitamin K‐dependent gamma‐carboxyglutamic acid protein 1 promotes pancreatic ductal adenocarcinoma progression through stabilizing oncoprotein KRAS and tyrosine kinase receptor EGF... by Zheng Wu, Qing Ye, Shan Zhang, Li‐Peng Hu, Xiao‐Qi Wang, Lin‐Li Yao, Lei Zhu, Shu‐Yu Xiao, Zong‐Hao Duan, Xue‐Li Zhang, Shu‐Heng Jiang, Zhi‐Gang Zhang, De‐Jun Liu, Dong‐Xue Li, Xiao‐Mei Yang

“…PDAC cell lines with overexpressed, knockdown, and mutated PRRG1 were developed to study biological functions and pathways using RNA‐seq, co‐immunoprecipitation with mass spectrometry, Western blotting, and immunofluorescence. …”
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The Rickettsia actin-based motility effectors RickA and Sca2 contribute differently to cell-to-cell spread and pathogenicity by Cuong J. Tran, Zahra Zubair-Nizami, Ingeborg M. Langohr, Matthew D. Welch

“…We further compared the roles of RickA and Sca2 in vivo following intradermal (i.d.) infection of Ifnar1−/−; Ifngr1−/− mice carrying knockout mutations in the genes encoding the receptors for IFN-I (Ifnar1) and IFN-γ (Ifngr1), which exhibit eschars and succumb to infection with wild-type (WT) R. parkeri. …”
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Forestry features of regionalization of forest reproductive material by Oleg Danchuk, Vasyl Blystiv, Zinovii Yurkiv, Vitaly Vovchanskyi

“…The theoretical basis for the development of methodological foundations for improving forest seed zoning in Ukraine is the natural intraspecific variability of tree species, which was formed in the process of evolution under the influence of mutations, recombinations and natural selection as a result of the adaptation of local populations to the conditions of their functioning. …”
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Blockades of effector T cell senescence and exhaustion synergistically enhance antitumor immunity and immunotherapy by Xia Liu, Emily Shaw, Fusheng Si, Guangyong Peng, Yan Tao, Feiya Ma, David Bagley, Yuanqin Zhang

“…Induction of ataxia-telangiectasia mutated protein (ATM)-associated DNA damage is the cause for T cell senescence induced by both mouse tumor cells and Treg cells, which is also regulated by mitogen-activated protein kinase (MAPK) signaling. …”
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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

“…This study showed a high diagnostic yield and reported 11 novel genetic variants, thereby contributing to expand the mutational spectrum of these conditions.…”
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DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

“…Results A total of 536 children (36.78%, 536/1,457) were found to have genetic variations, with 379 (70.71%, 379/536) exhibiting pathogenic monogenic mutations. Furthermore, 157 children (29.29%, 157/536) harbored DNA copy number variants, encompassing microdeletions (68.15%, 107/157) and microduplications (31.85%, 50/157). …”
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Construction of a radiogenomic signature based on endoplasmic reticulum stress for predicting prognosis and systemic combination therapy response in hepatocellular carcinoma by Huai-Yu Wu, Shu-Ya Cao, Zheng-Gang Xu, Tian- Wang, Gu-Wei Ji, Ke Wang

“…The high-risk group showed higher targeting programmed cell death-1 (PD-1) and mutated tumor protein p53 (TP53) scores. Drug sensitivity analysis found that most sensitive drugs target the phosphatidylinositol 3-kinase/ mechanistic target of rapamycin (PI3K/mTOR) signaling pathway. …”
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Exploration of alcohol dehydrogenase EutG from Bacillus tropicus as an eco-friendly approach for the degradation of polycyclic aromatic compounds by Muhammad Naveed, Fatima Iqbal, Tariq Aziz, Ayesha Saleem, Tayyab Javed, Mahrukh Afzal, Muhammad Waseem, Metab Alharbi, Thamer H. Albekairi

“…Lastly, in-silico site-directed mutagenesis studies were performed which showed that the EutG gene (codes for alcoholic dehydrogenase) obtained from B. tropicus, will not get altered or have any decreasing effect on the enzyme’s stability if it goes through any mutations. This suggests that B. tropicus can act as an efficient, non-virulent, and reliable candidate for the eco-friendly and cost-effective bioremediation of PACs.…”
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Leucocytosis and Asymptomatic Urinary Tract Infections in Sickle Cell Patients at a Tertiary Hospital in Zambia by Taonga Musonda, Mildred Zulu, Mulemba Samutela, Annie Kalonda, Hamakwa Mantina, Pauline Okuku, Musalula Sinkala, Panji Nkhoma

“…Sickle cell anaemia (SCA) is an inherited disease resulting from mutations in the β-globin chain of adult haemoglobin that results in the formation of homozygous sickle haemoglobin. …”
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Molecular-genetic approaches to species identification of platyhelminthes of the genus <i>Ligophorus</i> (Monogenea) parasitising flathead mullet by E. A. Vodiasova, E. S. Chelebieva, O. V. Shikhat, D. M. Atopkin, E. V. Dmitrieva

“…The two parasite species were distinguished by three-point mutations. Thus, one pair of primers was complementary to L. mediterraneus, the other, to L. cephali. …”
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Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes by Boyoung Park, Sun-young Kong, Dongju Won, Jong Eun Park, Jun-Kyu Kim, Mi-Ae Jang, Jung-Sook Ha, Kyoung-Bo Kim

“…Genetic variant data from BRCA1/2 and NGS will be used to classify participants into three subcohorts: pathogenic variants, variants of uncertain significance and undetectable mutations. A three-generation pedigree that includes details such as the year of cancer diagnosis, age at diagnosis, cancer type, survival status of family members and age at death will be constructed for each participant. …”
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Impact of EML4‐ALK Variants and TP53 Status on the Efficacy of ALK Inhibitors in Patients With Non‐small Cell Lung Cancer by Zihua Zou, Lige Wu, Xuezhi Hao, Yan Li, Li Liang, Yangchun Gu, Jianming Ying, Junling Li, Puyuan Xing

“…Conclusions EML4‐ALK short variants and TP53 mutations are both adverse factors for first‐line alectinib efficacy, but they have little effect on first‐line crizotinib.…”
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Delivery of dendritic cells targeting 3M2e-HA2 nanoparticles with a CpG adjuvant via lysosomal escape of Salmonella enhances protection against H9N2 avian influenza virus by Futing Jia, Wenfeng Wang, Yawen Tian, Ainul Zahra, Yingkai He, Chongbo Ge, Tongyu Zhang, Mingyue Wang, Jingshuo Gong, Gerui Zhang, Guilian Yang, Wentao Yang, Chunwei Shi, Jianzhong Wang, Haibin Huang, Xin Cao, Yang Zeng, Nan Wang, Zhannan Wang, Chunfeng Wang, Yanlong Jiang

“…Avian influenza virus (AIV) subtype H9N2 still poses a great threat to the poultry farming industry and public health worldwide, and the development of a new influenza vaccine that is safe and conservative and able to address influenza virus mutations is highly promising for application. HA2, the neck of the HA protein, and M2e, the extracellular N-terminal structural domain of the M2 protein, are conserved and effective protective antigens.In this study, the HA2 sequences were fused with three M2e copies (H9N2, H1N1 and H5N1) to the norovirus VP1 protein via the SpyTag-SpyCatcher platform to form self-assembled nanoparticles and display antigenic proteins on its surface, yielding pYL262. …”
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The Potential Role of sPD-L1 as a Predictive Biomarker in EGFR-Positive Non-Small-Cell Lung Cancer by Vesna Ćeriman Krstić, Dragana Jovanović, Natalija Samardžić, Milija Gajić, Jelena Kotur Stevuljević, Aleksandra Klisic, Ivan Soldatović, Damir Radončić, Marina Roksandić Milenković, Biljana Šeha, Nikola Čolić, Katarina Lukić, Milan Savić

“…Materials and Methods: Blood samples from 35 patients with EGFR-mutated (EGFRmut) adenocarcinoma who achieved disease control with EGFR tyrosine kinase inhibitor (EGFR TKI) therapy were collected for sPD-L1 analysis. …”
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MLL4 regulates postnatal palate growth and midpalatal suture development by Jung-Mi Lee, Hunmin Jung, Bruno de Paula Machado Pasqua, Yungki Park, Qinghuang Tang, Shin Jeon, Shin Jeon, Soo-Kyung Lee, Jae W. Lee, Hyuk-Jae Edward Kwon

“…MLL4, also known as KMT2D, is a histone methyltransferase that acts as an important epigenetic regulator in various organogenesis programs. Mutations in the MLL4 gene are the major cause of Kabuki syndrome, a human developmental disorder that involves craniofacial birth defects, including anomalies in the palate. …”
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Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy by Yu Chen, Xuan Wang, Jie Dai, Li Zhou, Xuefeng Xia, Jun Guo, Xue Bai, Lu Si, Bixia Tang, Chuanliang Cui, Xiaoting Wei, Xinan Sheng, Siming Li, Zhihong Chi, Lili Mao, Bin Lian, Xieqiao Yan, Yan Kong, Caili Li, Xuan Gao, Lirui Tang, Linzi Sun, Zhonghui Qi, Zelong Xu

“…Genomic sequencing analysis revealed that the genomic aberration landscape of PMME predominated in classical cancer driver genes, with approximately half of PMME cases harboring mutations in BRAF, N/KRAS, and NF1. In contrast, most NEMM cases were triple wild-type. …”
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