Search Our Scientific Publications & Authors

Genetics 2019 Apr 23. Epub 2019 Apr 23.

University of Pittsburgh School of Medicine

During meiosis, formation of double-strand breaks (DSBs) and repair by homologous recombination between homologs creates crossovers (COs) that facilitate chromosome segregation. CO formation is tightly regulated to ensure the integrity of this process. The DNA damage response kinases, Ataxia-telangiectasia mutated (ATM) and RAD3-related (ATR) have emerged as key regulators of CO formation in yeast, flies, and mice, influencing DSB formation, repair pathway choice, and cell cycle progression. Read More

Biochem Pharmacol 2019 Apr 20. Epub 2019 Apr 20.

Research Center of Traditional Chinese Medicine, the Affiliated Hospital to Changchun University of Chinese Medicine, Changchun, Jilin, China. Electronic address:

Resistance to standard induction therapy and relapse remain the primary challenges for improving therapeutic effects in acute myeloid leukemia (AML); thus, novel therapeutic strategies are urgently required. Ataxia telangiectasia and Rad3-related protein (ATR) is a key regulator of different types of DNA damage, which is crucial for the maintenance of genomic integrity. The ATR-selective inhibitor VE-822 has proper solubility, potency, and pharmacokinetic properties. Read More

Elife 2019 Apr 17;8. Epub 2019 Apr 17.

Department of Neurology, University of Texas Medical Branch, Galveston, United States.

How huntingtin (HTT) triggers neurotoxicity in Huntington's disease (HD) remains unclear. We report that HTT forms a transcription-coupled DNA repair (TCR) complex with RNA polymerase II subunit A (POLR2A), ataxin-3, the DNA repair enzyme polynucleotide-kinase-3'-phosphatase (PNKP), and cyclic AMP-response element-binding (CREB) protein (CBP). This complex senses and facilitates DNA damage repair during transcriptional elongation, but its functional integrity is impaired by mutant HTT. Read More

Sultan Qaboos Univ Med J 2018 Nov 28;18(4):e440-e446. Epub 2019 Mar 28.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Objectives: (A-T) is an autosomal recessive multisystem disorder characterised by cerebellar degeneration, , radiation sensitivity, immunodeficiency, oxidative stress and cancer susceptibility. Epidemiological research has shown that carriers of the heterozygous () gene mutation are radiosensitive to ionising irradiation and have a higher risk of cancers, type 2 diabetes and atherosclerosis. However, there is currently no fast and reliable laboratory-based method to detect heterozygous carriers for family screening and planning purposes. Read More

Brain Nerve 2019 Apr;71(4):380-382

Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital.

Ocular telangiectasias are pathognomonic of ataxia telangiectasia (AT), and they usually appear after 6 years of age. Skin and visceral telangiectasias may appear with advancing age. They may represent a progeric change. Read More

Cancer Res 2019 Apr 15. Epub 2019 Apr 15.

CRLC Val D'Aurelle, IRCM INSERM U1194

Although many colorectal cancer (CRC) patients initially respond to the chemotherapeutic agent oxaliplatin, acquired resistance to this treatment remains a major challenge to the long-term management of this disease. To identify molecular targets of oxaliplatin resistance in colorectal cancer (CRC), we performed an shRNA-based loss-of-function genetic screen using a kinome library. We found that silencing of ataxia-telangiectasia mutated and RAD3-related (ATR), a serine/threonine protein kinase involved in the response to DNA stress, restored oxaliplatin sensitivity in a cellular model of oxaliplatin resistance. Read More

Biofactors 2019 Apr 15. Epub 2019 Apr 15.

Department of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou City, Guangdong Province, China.

Neuroblastoma (NB) is one of the most common malignant tumors derived from pluripotent cells of the neural crest. Nodal is an important embryonic morphogen which can re-express in cancer cells. The roles of Nodal in the progression of NB are not illustrated. Read More

Front Oncol 2019 28;9:193. Epub 2019 Mar 28.

Program Against Cancer Therapeutic Resistance (ProCURE), Metabolism and Cancer Group, Catalan Institute of Oncology, Girona, Spain.

The minor allele () of the single-nucleotide polymorphism (SNP) , located near the () gene, has been associated with an increased likelihood of treatment success with metformin in type 2 diabetes. We herein investigated whether the same SNP would predict clinical response to neoadjuvant metformin in women with early breast cancer (BC). DNA was collected from 79 patients included in the intention-to-treat population of the METTEN study, a phase 2 clinical trial of HER2-positive BC patients randomized to receive either metformin combined with anthracycline/taxane-based chemotherapy and trastuzumab or equivalent regimen without metformin, before surgery. Read More

FEBS Open Bio 2019 Mar 29. Epub 2019 Mar 29.

Department of Cell Biology and Radiobiology, Institute of Biophysics, The Czech Academy of Sciences, Brno, Czech Republic.

Replication stress (RS) is a major driver of genomic instability and tumorigenesis. Here, we investigated whether RS induced by the nucleotide analog fludarabine and specific kinase inhibitors [e.g. Read More

Oncogene 2019 Apr 9. Epub 2019 Apr 9.

CNR-Institute of Cell Biology and Neurobiology, Monterotondo Scalo, Rome, Italy.

Inhibitors of Vascular Endothelial Growth Factor target both tumor vasculature and cancer cells that have hijacked VEGF Receptors (VEGFRs) signaling for tumor growth-promoting activities. It is important to get precise insight in the specificity of cell responses to these antiangiogenic drugs to maximize their efficiency and minimize off-target systemic toxicity. Here we report that Axitinib, an inhibitor of VEGFRs currently in use as a second line treatment for advanced renal cell carcinoma, promotes senescence of human endothelial cells in vitro. Read More

FASEB J 2019 Apr 9:fj201802009RR. Epub 2019 Apr 9.

Departamento de Biología Experimental, Universidad de Jaén, Jaén, Spain.

Cellular checkpoints controlling entry into mitosis monitor the integrity of the DNA and delay mitosis onset until the alteration is fully repaired. However, this canonical response can weaken, leading to a spontaneous bypass of the checkpoint, a process referred to as checkpoint adaptation. Here, we have investigated the contribution of microcephalin 1 (MCPH1), mutated in primary microcephaly, to the decatenation checkpoint, a less-understood G pathway that delays entry into mitosis until chromosomes are properly disentangled. Read More

Chem Res Toxicol 2019 Apr 22. Epub 2019 Apr 22.

Department of Environmental and Occupational Health , Rutgers University School of Public Health , Piscataway , New Jersey 08854 , United States.

Nitrogen mustard, mechlorethamine (bis(2-chloroethyl)methylamine; HN2), and sulfur mustard are potent vesicants that modify and disrupt cellular macromolecules including DNA leading to cytotoxicity and tissue injury. In many cell types, HN2 upregulates DNA damage signaling pathways including ataxia telangiectasia mutated (ATM), ataxia telangiectasia mutated- and Rad3-related (ATR) as well as DNA-dependent protein kinase (DNA-PK). In the present studies, we investigated crosstalk between the HN2-induced DNA damage response and cell cycle progression using human A549 lung epithelial cells. Read More

J Exp Clin Cancer Res 2019 Apr 8;38(1):149. Epub 2019 Apr 8.

Department of Cardiothoracic Surgery, The Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu, 215004, People's Republic of China.

Background: The cisplatin-resistance is still a main course for chemotherapy failure of lung cancer patients. Cisplatin-resistant cancer cells own higher malignance and exhibited increased metastatic ability, but the mechanism is not clear. In this study, we investigated the effects of Ataxia Telangiectasia Mutated (ATM) on lung cancer metastasis. Read More

Anticancer Res 2019 Apr;39(4):1839-1847

Department of Biological Science and Technology, China Medical University, Taichung, Taiwan, R.O.C.

Background/aim: Casticin shows anti-cancer effects in many types of cancer. However, there is no information regarding its role in DNA damage in human bladder cancer. The aim of this study was to investigate the effects of casticin on TSGH-8301 cells in vitro. Read More

Sci Adv 2019 Mar 27;5(3):eaav1118. Epub 2019 Mar 27.

Guangdong Key Laboratory of Genome Instability and Human Disease, Shenzhen University Carson Cancer Center, Department of Biochemistry and Molecular Biology, Shenzhen University School of Medicine, Shenzhen 518060, China.

The activation of ataxia-telangiectasia mutated (ATM) upon DNA damage involves a cascade of reactions, including acetylation by TIP60 and autophosphorylation. However, how ATM is progressively deactivated after completing DNA damage repair remains obscure. Here, we report that sirtuin 7 (SIRT7)-mediated deacetylation is essential for dephosphorylation and deactivation of ATM. Read More

BMC Cancer 2019 Apr 3;19(1):300. Epub 2019 Apr 3.

University of Liverpool, Institute of Integrated Biology, Department of Biochemistry, Centre for Cell Imaging, L69 7ZB, Liverpool, UK.

Background: Solid tumours are less oxygenated than normal tissues. This is called tumour hypoxia and leads to resistance to radiotherapy and chemotherapy. The molecular mechanisms underlying such resistance have been investigated in a range of tumour types, including the adult brain tumours glioblastoma, yet little is known for paediatric brain tumours. Read More

J Hematol Oncol 2019 Apr 2;12(1):33. Epub 2019 Apr 2.

Department of Pathology, National University Health System, Singapore, Singapore.

Extranodal NK/T cell lymphoma, nasal type (ENKTL) is an aggressive malignancy with a dismal prognosis. Although L-asparaginase-based chemotherapy has resulted in improved response rates, relapse occurs in up to 50% of patients with disseminated disease. There is hence an urgent need for effective targeted therapy, especially for patients with relapsed or refractory disease. Read More

J Photochem Photobiol B 2019 Mar 21;194:84-95. Epub 2019 Mar 21.

Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China. Electronic address:

Ultraviolet (UV)-B radiation is a major environmental risk factor that is responsible for the development and progression of many skin cancers. Apigenin, a type of bioflavonoid, has been reported to inhibit UVB-induced skin cancer. However, how apigenin functions in keratinocytes with UV damage remains unclear. Read More

J Pediatr Hematol Oncol 2019 Mar 29. Epub 2019 Mar 29.

Division of Pediatric Intensive Care, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

Ataxia-telangiectasia (AT) is a hereditary recessive autosomal disorder following a course of progressive cerebellar ataxia, and oculocutaneous telangiectasia. Disease-specific telangiectasias are generally localized in the oculocutaneous region, while telangiectasias located within the bladder are rarely seen in patients with AT. The patient who had been followed-up with a diagnosis of AT since the age of 3 years was later diagnosed with acute lymphoblastic leukemia at the age of 8 years. Read More

Toxicol Res (Camb) 2019 Mar 30;8(2):180-187. Epub 2018 Nov 30.

School of Environmental and Chemical Engineering , Shanghai University , Shanghai 200444 , China . Email: ; Tel: +86 21 66137736.

Nano-sized ambient black carbon (BC) is hypothesized to pose a serious threat to human health. After emission into the air, the atmospheric oxidation process can modify its physiochemical properties and change its biological responses. In this study, we aimed to compare different DNA damage and repair responses promoted by fresh BC (FBC) and ozone oxidized-BC (OBC). Read More

Chem Biol Interact 2019 Mar 29;305:148-155. Epub 2019 Mar 29.

Department of Neurosurgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi Province, 710061, China. Electronic address:

Accumulating evidence has documented that ataxia-telangiectasia group D complementing gene (ATDC) is aberrantly expressed in various cancers and is associated with cancer development and progression. However, little is known about the role of ATDC in glioma tumorigenesis. In this study, we aimed to explore the biological function and regulatory mechanism of ATDC in glioma. Read More

Stem Cells 2019 Mar 28. Epub 2019 Mar 28.

Aix-Marseille University, CNRS, INP, Institute of NeuroPhysiopathology, Marseille, France.

In glioblastomas, apoptosis inhibitor proteins (IAPs) are involved in apoptotic and non-apoptotic processes. We previously showed that IAPs inhibition induced a loss of stemness and glioblastoma stem cells differentiation by activating nuclear factor-κB under normoxic conditions. Hypoxia has been shown to modulate drug efficacy. Read More

Proc Natl Acad Sci U S A 2019 Apr 27;116(15):7323-7332. Epub 2019 Mar 27.

Department of Biochemistry and Molecular Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC 3010, Australia;

To investigate how chromatin architecture is spatiotemporally organized at a double-strand break (DSB) repair locus, we established a biophysical method to quantify chromatin compaction at the nucleosome level during the DNA damage response (DDR). The method is based on phasor image-correlation spectroscopy of histone fluorescence lifetime imaging microscopy (FLIM)-Förster resonance energy transfer (FRET) microscopy data acquired in live cells coexpressing H2B-eGFP and H2B-mCherry. This multiplexed approach generates spatiotemporal maps of nuclear-wide chromatin compaction that, when coupled with laser microirradiation-induced DSBs, quantify the size, stability, and spacing between compact chromatin foci throughout the DDR. Read More

Ann Hum Genet 2019 Mar 19. Epub 2019 Mar 19.

Department of Biomedical Diagnostics, Hospital San Pedro, Logroño, Spain.

Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, ocular apraxia, immunodeficiency, telangiectasia, elevated serum α-fetoprotein concentration, radiosensitivity and cancer predisposition. Classical A-T is caused by biallelic variants on ATM (ataxia telangiectasia mutated) gene, leading to a loss of function of the protein kinase ATM, involved in DNA damage repair. Atypical presentations can be found in A-T-like disease or in Nijmegen breakage syndrome, caused by deficiency of mre11 or nibrin proteins, respectively. Read More

Sci Rep 2019 Mar 18;9(1):4782. Epub 2019 Mar 18.

Division of Medical Physiology, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, 7505, South Africa.

The absence of Ataxia-Telangiectasia mutated protein kinase (ATM) is associated with neurological, metabolic and cardiovascular defects. The protein has been associated with mitochondria and its absence results in mitochondrial dysfunction. Furthermore, it can be activated in the cytosol by mitochondrial oxidative stress and mediates a cellular anti-oxidant response through the pentose phosphate pathway (PPP). Read More

Nat Commun 2019 03 18;10(1):1242. Epub 2019 Mar 18.

Department of Oncology, Mayo Clinic, Rochester, MN, 55905, USA.

The ataxia-telangiectasia mutated (ATM) kinase, an upstream kinase of the DNA damage response (DDR), is rapidly activated following DNA damage, and phosphorylates its downstream targets to launch DDR signaling. However, the mechanism of ATM activation is still not completely understood. Here we report that UFM1 specific ligase 1 (UFL1), an ufmylation E3 ligase, is important for ATM activation. Read More

J Eur Acad Dermatol Venereol 2019 Mar 14. Epub 2019 Mar 14.

National Reference Centre for Genodermatosis and Rare Diseases of the Skin (MAGEC), Necker-Enfants Malades Hospital, APHP, Paris, France.

Background: Paediatric cutaneous granuloma with primary immunodeficiency (PID) is a rare condition. The physiopathology is unclear, and treatment is challenging. We report on 17 paediatric cases and review the literature. Read More

Mol Hum Reprod 2019 Mar 14. Epub 2019 Mar 14.

Department of Obstetrics and Gynecology, Faculty of Medicine, Oita University, Oita 879-5593, Japan.

A number of genes involved in the pathogenesis of endometriosis are silenced by the hypermethylation of their promoter regions. We assessed the effect and mechanism of the DNA demethylating agent 5-aza-2'-deoxycytidine (5-aza-dC) (10 μM) on the cell cycle in human endometriotic cyst stromal cells (ECSCs) and normal endometrial stromal cells (NESCs) by flow cytometry. The DNA methylation status of G2/M checkpoint regulators were investigated by methylation-specific polymerase chain reaction (PCR). Read More

FEBS Open Bio 2019 Mar 30;9(3):478-489. Epub 2019 Jan 30.

Department of Urology The First Hospital of China Medical University Shenyang China.

Tumor suppressor p53 is a short-lived nuclear transcription factor, which becomes stabilized and activated in response to a wide variety of cellular stresses. Around 50% of human cancer tissues carry mutations, and certain mutations contribute to chemoresistance. In the present study, we found that histone deacetylase 2 (HDAC2) acts as a co-activator of tumor suppressor p53 and participates in the early molecular events following DNA damage. Read More

J Biol Chem 2019 Mar 13. Epub 2019 Mar 13.

Department of Chemistry, Biomolecular NMR spectroscopy, Technische Universität München, Germany.

The Ser/Thr protein kinase ataxia telangiectasia mutated (ATM) plays an important role in the DNA damage response, signaling in response to redox signals, the control of metabolic processes, and mitochondrial homeostasis. ATM localizes to the nucleus and at the plasma membrane, mitochondria, peroxisomes, and other cytoplasmic vesicular structures. It has been shown that the C-terminal FATC domain of human ATM (hATMfatc) can interact with a range of membrane mimetics and may thereby act as a membrane-anchoring unit. Read More

Oncotarget 2019 Feb 12;10(13):1272-1283. Epub 2019 Feb 12.

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.

PTEN is a tumor suppressor that is highly mutated in a variety of human cancers. Recent studies have suggested a link between PTEN loss and deficiency in the non-homologous end-joining (NHEJ) pathway of DNA double strand break (DSB) repair. As a means to achieve synthetic lethality in this context, we tested the effect of 3E10, a cell-penetrating autoantibody that inhibits RAD51, a key factor in the alternative pathway of DSB repair, homology dependent repair (HDR). Read More

Pediatr Dermatol 2019 Mar 10. Epub 2019 Mar 10.

Cooper Medical School of Rowan University, Camden, NJ.

Ataxia telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder caused by a mutation in the ATM gene. An impaired immune response due to the gene mutation leads to an increased risk of infection and malignancy. We present a rare case of dermatofibrosarcoma protuberans arising in a patient with AT. Read More

J Nucl Med 2019 Mar 8. Epub 2019 Mar 8.

Bayer AS, Norway.

Targeted thorium conjugates (TTCs) represent a new class of therapeutic radiopharmaceuticals for the targeted alpha therapy. They are comprised of the alpha emitter thorium-227 complexed to a 3,2-hydroxypyridinone (3,2-HOPO) chelator conjugated to a tumor targeting monoclonal antibody. The high energy and short range of the alpha particles induce anti-tumor activity, driven by the induction of complex DNA double strand breaks. Read More

Cell Biochem Funct 2019 Apr 8;37(3):177-184. Epub 2019 Mar 8.

Division of Thyroid Surgery, China-Japan Union Hospital of Jilin University, Jilin Provincial Key Laboratory of Surgical Translational Medicine, Jilin Provincial Precision Medicine Laboratory of Molecular Biology and Translational Medicine on Differentiated Thyroid Carcinoma, Changchun City, Jilin Province, China.

The ataxia-telangiectasia mutated (ATM) protein kinase is best known for its critical nuclear roles in the DNA damage response (DDR), cell cycle checkpoints, and the maintenance of gene stability. In this review, we highlight the multifaceted cytoplasmic functions of ATM in autophagy. We focused on the functions of ATM in nonselective autophagy in cancer. Read More

J Hum Genet 2019 May 8;64(5):445-458. Epub 2019 Mar 8.

Department of Clinical Application, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, 606-8507, Japan.

Seckel syndrome (SS) is a rare spectrum of congenital severe microcephaly and dwarfism. One SS-causative gene is Ataxia Telangiectasia and Rad3-Related Protein (ATR), and ATR (c.2101 A>G) mutation causes skipping of exon 9, resulting in a hypomorphic ATR defect. Read More

J Med Chem 2019 Mar 19;62(6):2988-3008. Epub 2019 Mar 19.

CHDI Management/CHDI Foundation , 6080 Center Drive , Los Angeles , California 90045 , United States.

Genetic and pharmacological evidence indicates that the reduction of ataxia telangiectasia-mutated (ATM) kinase activity can ameliorate mutant huntingtin (mHTT) toxicity in cellular and animal models of Huntington's disease (HD), suggesting that selective inhibition of ATM could provide a novel clinical intervention to treat HD. Here, we describe the development and characterization of ATM inhibitor molecules to enable in vivo proof-of-concept studies in HD animal models. Starting from previously reported ATM inhibitors, we aimed with few modifications to increase brain exposure by decreasing P-glycoprotein liability while maintaining potency and selectivity. Read More

J Radiat Res 2019 Mar 6. Epub 2019 Mar 6.

Department of Interdisciplinary Environment, Graduate School of Human and Environmental Sciences, Kyoto University, Yoshidanihonmatsucho, Sakyo-ku, Kyoto 606-8501, Japan.

The nucleolus contains multiple copies of ribosomal (r)DNA, which indicate sites of frequent replication stress and suggest the existence of a mechanism to prevent replication stress-related rDNA instability and the possibility that such a mechanism contributes to the whole genomic stability against replication stress. We have previously reported that nucleolin, a major nucleolar protein, is involved in ionizing radiation-induced DNA damage responses (DDRs) such as ataxia telangiectasia mutated (ATM)-dependent cell cycle checkpoints and homologous recombination (HR) repair. Here, we investigated the role of nucleolin in DDR due to replication stress. Read More

Biosci Biotechnol Biochem 2019 Mar 5:1-10. Epub 2019 Mar 5.

a Department of Biosciences & Informatics , Keio University , Yokohama , Japan.

Our previous work has reported an anti-proliferative compound from moutan cortex, paeoniflorigenone which can induce cancer-selective apoptosis. However, its anti-proliferative mechanism is still unknown. According to morphology changes (hypertrophy and flattening), we hypothesized that PFG can induce senescence or inhibit cell mitosis. Read More

Kidney Int 2019 Apr 1;95(4):958-972. Epub 2019 Mar 1.

British Heart Foundation Centre of Excellence, Cardiovascular Division, King's College London, London, UK. Electronic address:

Children on dialysis have a cardiovascular mortality risk equivalent to older adults in the general population, and rapidly develop medial vascular calcification, an age-associated pathology. We hypothesized that premature vascular ageing contributes to calcification in children with advanced chronic kidney disease (CKD). Vessels from children with Stage 5 CKD with and without dialysis had evidence of increased oxidative DNA damage. Read More

Head Neck 2019 Feb 28. Epub 2019 Feb 28.

Department of Dental Hygiene, College of Health Care, China Medical University, Taichung, Taiwan.

Background: Ataxia telangiectasia mutated (ATM) regulates DNA repair and cell cycle. The present study analyzed arecoline-induced ATM expression during oral cancer progression.

Methods: In vitro studies were performed using oral squamous cell carcinoma (OSCC) cell lines treated with arecoline to analyze cell response and ATM regulation. Read More

J Med Genet 2019 Feb 28. Epub 2019 Feb 28.

Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.

Background: Ataxia telangiectasia (A-T) is a neurodegenerative disorder. While patients with classic A-T generally die in their 20s, some patients with variant A-T, who have residual ataxia-telangiectasia mutated (ATM) kinase activity, have a milder phenotype. We noticed two commonly occurring mutations that appeared to be associated with prolonged survival and decided to study patients carrying one of these mutations. Read More

Plast Reconstr Surg 2019 03;143(3):747-756

Durham, N.C. From Duke University School of Medicine, the Departments of Dermatology and Pathology, and the Division of Plastic and Reconstructive Surgery, Duke University.

Background: The tumor microenvironment within the breast is rich in adipose elements. The interaction between adipose cells and breast cancer is poorly understood, particularly as it pertains to patients with genetic susceptibility to breast cancer. This study focuses on the phenotype of human adipose-derived stem cells with the BRCA1 mutation and the effect they may have on breast cancer cell behavior. Read More

Reproduction 2019 03;157(3):223-234

Department of Animal Sciences, Chungbuk National University, Cheongju, Korea.

Homologous recombination (HR) plays a critical role in facilitating replication fork progression when the polymerase complex encounters a blocking DNA lesion, and it also serves as the primary mechanism for error-free DNA repair of double-stranded breaks. DNA repair protein RAD51 homolog 1 (RAD51) plays a central role in HR. However, the role of RAD51 during porcine early embryo development is unknown. Read More

Mol Med Rep 2019 May 27;19(5):3441-3448. Epub 2019 Feb 27.

BGI Genomics, BGI‑Shenzhen, Shenzhen, Guangdong 518083, P.R. China.

Ataxia‑telangiectasia (A‑T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM serine/threonine kinase (ATM) gene. Typically, it presents in early childhood with progressive cerebellar dysfunction, accompanied by immunodeficiency and oculocutaneous telangiectasia. In the present study, the clinical and genetic findings of a Chinese family affected with A‑T in two live siblings, the proband (II‑2) and his elder brother (II‑1), as well as a fetus (II‑3) were reported. Read More

Clin Transl Radiat Oncol 2019 Feb 24;15:99-107. Epub 2019 Jan 24.

Radiation Oncology Research Unit, Hannover Medical School, Carl-Neuberg Str. 1, 30625 Hannover, Germany.

Background And Purpose: The translationally controlled tumor protein 1 (TPT1/TCTP) has been implicated in the intracellular DNA damage response. We tested the role of TPT1 in breast cancer (BC) predisposition and re-evaluated its function in Ataxia-Telangiectasia mutated (ATM)-mediated damage recognition and DNA repair.

Material And Methods: The coding sequence was scanned for mutations in genomic DNA from 200 breast cancer patients. Read More

BMC Cancer 2019 Feb 27;19(1):179. Epub 2019 Feb 27.

Department of Pharmacy and Applied Sciences, La Trobe Institute for Molecular Science (LIMS), La Trobe University, P.O. Box 199, Bendigo, Victoria, Australia.

Background: Daunorubicin is commonly used in the treatment of acute lymphoblastic leukaemia (ALL). The aim of this study was to explore the kinetics of double strand break (DSB) formation of three ALL cell lines following exposure to daunorubicin and to investigate the effects of daunorubicin on the cell cycle and the protein kinases involved in specific checkpoints following DNA damage and recovery periods.

Methods: Three ALL cell lines CCRF-CEM and MOLT-4 derived from T lymphocytes and SUP-B15 derived from B lymphocytes were examined following 4 h treatment with daunorubicin chemotherapy and 4, 12 and 24 h recovery periods. Read More

Biomolecules 2019 02 22;9(2). Epub 2019 Feb 22.

College of Environmental and Biological Engineering, Putian University, Putian 351100, China.

The phosphorylation of histone H3 at serine 10 (p-H3S10) has been shown to be closely correlated with mitotic chromosome condensation. We previously reported that intracellular silver nanoparticles (AgNPs) release Ag ions that alter actin filament dynamics, leading to the activation of Aurora kinases and the formation of p-H3S10 through a mechanism clearly different from that occurring during mitosis. In the present study, we examined other mechanisms underlying the induction of p-H3S10 formation by AgNPs. Read More

J Cell Physiol 2019 Feb 25. Epub 2019 Feb 25.

Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Wnt1-inducible signaling protein 1 (WISP1) is a matricellular protein and downstream target of Wnt/β-catenin signaling. This study sought to determine the role of WISP1 in glucose metabolism and chemoresistance in laryngeal squamous cell carcinoma. WISP1 expression was silenced or upregulated in Hep-2 cells by the transfection of WISP1 siRNA or AdWISP1 vector. Read More

Mol Cell Probes 2019 04 22;44:57-62. Epub 2019 Feb 22.

Department of Human Anatomy, Histology and Embryology, Shandong University School of Medicine, Jinan, 250000, PR China. Electronic address:

CDKL1 is a cyclin-dependent kinase-like kinase that is highly expressed in diverse types of cancer cells. However, the role of CDKL1 in the chemoresistance of oral squamous cell carcinoma (OSCC) remains largely undefined. Here, we explored the role of CDKL1 in the chemoresistance of the human OSCC cell line CAL27 to hydroxycamptothecin (HCPT). Read More

Circulation 2019 Feb;139(9):1237-1239

Department of Internal Medicine (Y.N., N.U.N.N., F.X., J.J.S., N.T.L., T.G.G., J.A.H., H.A.S.), the University of Texas Southwestern Medical Center, Dallas.