Results 41 to 50 of about 299,286 (332)

Accuracy of mutational signature software on correlated signatures

Scientific Reports, 2022
Mutational signatures are characteristic patterns of mutations generated by exogenous mutagens or by endogenous mutational processes. Mutational signatures are important for research into DNA damage and repair, aging, cancer biology, genetic toxicology ...
Yang Wu, Ellora Hui Zhen Chua, Alvin Wei Tian Ng, Arnoud Boot, Steven G. Rozen   +4 more
doaj   +1 more source

Blastic plasmacytoid dendritic cell neoplasm: Genomics mark epigenetic dysregulation as a primary therapeutic target [PDF]

, 2019
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy for which there is still no effective B therapy.
Abate F., Agostinelli C., Amente S., Berti E., Bertolini F., Brundu F., Cerroni L., Dellino G. I., Etebari M., Facchetti F., Falini B., Fuligni F., Indio V., Laginestra M. A., Melle F., Motta G., Orecchioni S., Paulli M., Piccioni R., Pileri A., Pileri S. A., Pimpinelli N., Rabadan R., Rossi M., Sabattini E., Sapienza M. R., Tabanelli V., Talarico G., Tarantino G., Tripodo C., Truni M.   +30 more
core   +2 more sources

Systematic pan-cancer analysis of the potential tumor diagnosis and prognosis biomarker P4HA3

Frontiers in Genetics, 2023
Purpose: Prolyl 4-hydroxylase subunit alpha 3 (P4HA3) is implicated in several cancers’ development. However, P4HA3 has not been reported in other cancers, and the exact mechanism of action is currently unknown.Materials and methods: First, the ...
Yinteng Wu, Bo Zhang, Juan Nong, Raquel Alarcòn Rodrìguez, Wenliang Guo, Ying Liu, Shijian Zhao, Ruqiong Wei   +7 more
doaj   +1 more source

Characterization of gyrA and gyrB mutations and fluoroquinolone resistance in Mycobacterium tuberculosis clinical isolates from Hubei Province, China

Brazilian Journal of Infectious Diseases
OBJECTIVE: The study aimed to investigate gyrA and gyrB mutations in Mycobacterium tuberculosis (MTB) clinical strains from 93 patients with pulmonary tuberculosis in Hubei Province, China, and analyze the association between mutation patterns of the ...
Jun Chen, Zhifei Chen, Yuanyuan Li, Wei Xia, Xi Chen, Tian Chen, Liping Zhou, Bin Xu, Shunqing Xu   +8 more
doaj   +1 more source

The high cancer incidence in young people in Italy: do genetic signatures reveal their environmental causes? [PDF]

Journal of Health and Social Sciences, 2016
The increased incidence of cancer in children and adolescents registered in Italy in the last few decades is one of the highest amongst Western countries. The causes are difficult to identify, but recent daily news and some epidemiological surveys, such
Ruggero Ridolfi
doaj   +1 more source

Total Number of Alterations in Liquid Biopsies Is an Independent Predictor of Survival in Patients With Advanced Cancers. [PDF]

, 2020
PurposeStudies have demonstrated an association between quantity of circulating tumor DNA (ctDNA) and poorer survival. We investigated the relationship between percent ctDNA (%ctDNA), total number of ctDNA alterations, and overall survival (OS) in liquid
Goodman, Aaron, Khagi, Yulian, Kurzrock, Razelle, Riviere, Paul, Vu, Peter   +4 more
core  

Tandem repeat DNA: applications in mutation analysis

Environmental Mutagen Research, 2005
Non-coding tandem repeat DNA sequences have high rates of mutation that facilitate the measurement of induced mutation in small sample sizes. It has been suggested that these loci may be useful biomarkers for heritable genetic mutation induced by exposure to genotoxic agents.
Carole Yauk, Aris Polyzos
openaire   +2 more sources

Improved Outcomes for Older Children, Adolescents, and Young Adults With Neuroblastoma in the Post‐Immunotherapy Era: An Updated Report From the International Neuroblastoma Risk Group

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background We describe clinical and biologic characteristics of neuroblastoma in older children, adolescents, and young adults (OCAYA); describe survival outcomes in the post‐immunotherapy era; and identify if there is an age cut‐off that best discriminates outcomes.
Rebecca J. Deyell, Kavitha Srivatsa, Paola Angelini, Pei‐Chi Kao, Brady Payne, Arlene Naranjo, Sveva Castelli, Miho Kato, Miki Ohira, Ulriche Pöetschger, Yaël Mossé, Lucas Moreno, Meredith S. Irwin, Ramya Ramanujachar, Wendy B. London   +14 more
wiley   +1 more source

Prevalências das mutações 35delG/GJB2 e del (GJB6-D13S1830) em portadores de surdez não-sindrômica na população do Espírito Santo - Brasil Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil

Brazilian Journal of Otorhinolaryngology, 2010
Mutações no gene GJB2 constituem a principal causa de surdez genética de herança autossômica recessiva, sendo a mutação 35delG a mais comum em muitos grupos étnicos.
Melissa de Freitas Cordeiro-Silva, Andressa Barbosa, Marília Santiago, Mariana Provetti, Eliete Rabbi-Bortolini   +4 more
doaj   +1 more source

Diabetes-associated breast cancer is molecularly distinct and shows a DNA damage repair deficiency

JCI Insight, 2023
Diabetes commonly affects patients with cancer. We investigated the influence of diabetes on breast cancer biology using a 3-pronged approach that included analysis of orthotopic human tumor xenografts, patient tumors, and breast cancer cells exposed to ...
Gatikrushna Panigrahi, Julián Candia, Tiffany H. Dorsey, Wei Tang, Yuuki Ohara, Jung S. Byun, Tsion Zewdu Minas, Amy Zhang, Anuoluwapo Ajao, Ashley Cellini, Harris G. Yfantis, Amy L. Flis, Dean Mann, Olga Ioffe, Xin W. Wang, Huaitian Liu, Christopher A. Loffredo, Anna Maria Napoles, Stefan Ambs   +18 more
doaj   +1 more source