Results 91 to 100 of about 20,819 (199)

DHX15 affects AML1‐ETO9a splicing together with HNRNPL, RBM33 in AML1‐ETO‐positive acute myeloid leukaemia

British Journal of Haematology, EarlyView.
Moderate DHX15, HNRNPL and RBM33 expression drives predominant AML1‐ETO mRNA production, while elevated expression of them promotes generating more AE9a mRNA (Aspartic acid ‐ Glutamic acid ‐ Alanine ‐ Aspartic acid sequence)(messenger ribonucleic acid).
Qiao Liu, Xuechun Wang, Jiqiang Fan, Yi Zheng, Luya Ye, Wenhan Chang, Xianglei Chen, Yuanhua Cai, Xiaolin Lai, Yang Li, Lili Pan, Xiaofan Li, RenJang Lin, Shaoyuan Wang   +13 more
wiley   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Endoplasmic Reticulum Stress and Unfolded Protein Response in Atm-Deficient Thymocytes and Thymic Lymphoma Cells Are Attributable to Oxidative Stress

Neoplasia: An International Journal for Oncology Research, 2008
Both oxidative stress and endoplasmic reticulum (ER) stress have been implicated in carcinogenesis. It is well documented that cells deficient in the ataxia-telangiectasia mutated (ATM) gene undergo oxidative stress, which is critically involved in ...
Mingshan Yan, Jianjun Shen, Maria D. Person, Xianghong Kuang, William S. Lynn, Daphne Atlas, Paul K.Y. Wong   +6 more
doaj   +1 more source

RAD51 and RAD51 paralog inhibition sensitizes nonreplicating quiescent keratinocytes to UV radiation

Photochemistry and Photobiology, EarlyView.
UV radiation and other compounds generate DNA adducts that block transcription and induce cell death if not removed by the nucleotide excision repair system. In this work, we used a small‐scale pharmacological screen to discover that inhibition of the recombinase RAD51 sensitized nonreplicating quiescent keratinocytes to both UVR and other agents that ...
Saman Khan, Angitha Nair, M. Alexandra Carpenter, Michael G. Kemp   +3 more
wiley   +1 more source

Born early, age fast: Consequences of premature birth on chronic disease and accelerated ageing

The Journal of Physiology, EarlyView.
Abstract figure legend ELGANs are exposed to several postnatal pro‐oxidant stressors, including ambient and supplemental oxygen, mechanical ventilation, infections, hyperalimentation, excessive glucocorticoids and intermittent hypoxia. Since endogenous antioxidant defences are underdeveloped, this imbalance promotes oxidative stress and inflammation ...
Estelle B. Gauda, Julijana Ivanovska, Dwayne Mascarenhas, Jeffrey Antwi, Atefeh Mohammadi, Bonny Jasani   +5 more
wiley   +1 more source

Thyroid hormones derivatives reduce proliferation and induce cell death and DNA damage in ovarian cancer

Scientific Reports, 2017
Ovarian cancer is a highly aggressive disease and novel treatments are required. Thyroid hormones binding to αvβ3 integrin produced growth-promoting activities in ovarian cancer and we hypothesized that natural thyroid hormone derivatives may antagonize ...
Elena Shinderman-Maman, Keren Cohen, Dotan Moskovich, Aleck Hercbergs, Haim Werner, Paul J. Davis, Martin Ellis, Osnat Ashur-Fabian   +7 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Modeling the role of p53 pulses in DNA damage- induced cell death decision

BMC Bioinformatics, 2009
Background The tumor suppressor p53 plays pivotal roles in tumorigenesis suppression. Although oscillations of p53 have been extensively studied, the mechanism of p53 pulses and their physiological roles in DNA damage response remain unclear.
Cui Jun, Zhang Shuai, Wu Yuanyuan, Chen Chun, Sun Tingzhe, Shen Pingping   +5 more
doaj   +1 more source

Mutation at Intronic Repeats of the Ataxia-Telangiectasia Mutated (ATM) Gene and ATM Protein Loss in Primary Gastric Cancer with Microsatellite Instability

PLoS ONE, 2013
Ataxia-telangiectasia mutated (ATM) is a Ser/Thr protein kinase that plays a critical role in DNA damage-induced signaling and initiation of cell cycle checkpoint signaling in response to DNA-damaging agents such as ionizing radiation. We have previously reported the ATM protein loss by immunohistochemistry (IHC) in 16% of human gastric cancer (GC ...
Hee Sung Kim, Seung Im Choi, Hae Lim Min, Min A Kim, Woo Ho Kim   +4 more
openaire   +4 more sources