Results 131 to 140 of about 125,484 (288)

Genetic insights into neurodevelopment: the critical role of copy number variations in neurodevelopmental disorders

Future Journal of Pharmaceutical Sciences
Neurodevelopmental disorders (NDDs) significantly affect brain development, leading to challenges in communication, learning, and emotional regulation.
Muqtada Shaikh, Gaurav Doshi
doaj   +1 more source

SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold. [PDF]

Sovrem Tekhnologii Med, 2021
Kievskaya JK, Shilova NV, Kanivets IV, Kudryavtseva EV, Pyankov DV, Korostelev SA.   +5 more
europepmc   +1 more source

Developmental programmes drive cellular plasticity, disease progression and therapy resistance in lung adenocarcinoma

Molecular Oncology, EarlyView.
This study shows that lung adenocarcinomas exploit developmental branching morphogenesis to acquire a therapy resistant basal‐like tumour cell state. This process was found to be regulated by combined TP53 loss‐of‐function and type‐I interferon signalling, identifying a novel axis for biomarker and therapeutic target discovery.
Kamila J Bienkowska, Stephany Gallardo, Nur S. Zainal, Leena Arora, Matthew Ellis, Maria‐Antoinette Lopez, Judith Austine, Sai Pittla, Serena J Chee, Aiman Alzetani, Emily C Shaw, Christian H Ottensmeier, Gareth J Thomas, Christopher J Hanley   +13 more
wiley   +1 more source

Investigation of copy-number variations of C8orf4 in hematological malignancies [PDF]

, 2010
C8orf4, thyroid cancer-1 (TC1), was first identified in papillary thyroid carcinoma and encodes a nucleus-localized protein. A recent array-based study implicated the presence of copy-number variations (CNVs) of C8orf4 in the genomes of acute myelogenous
Ming Guan, Wei Zhang, Zhang, Jiahao, Guan, Ming, Zhao, Xiaosu, Zhang, Wei, Gao, Yan, Jiahao Zhang, Yan Gao, Xiaosu Zhao, Jun Wan, Wan, Jun, Yu, Bo, Bo Yu   +13 more
core   +1 more source

Cell-free DNA chromosome copy number variations predict outcomes in plasma cell myeloma

Blood Cancer Journal, 2023
Wanting Qiang, Lina Jin, Tiancheng Luo, Yanchun Jia, Jing Lu, Jin Liu, Haiyan He, Ziliang Qian, Sridurga Mithraprabhu, Yang Liang, Robert Peter Gale, Xia Tao, Depei Wu, Juan Du   +13 more
doaj   +1 more source

Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability

Clinical Case Reports
Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.1_q22.31, implicating the NUS1 gene in epilepsy, spinal ...
Jing Y. Hsu, Daniah H. Ibrahim, Riza Ali, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
doaj   +1 more source

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma [PDF]

, 2015
Author version freely available from PubMed Central (PMC). http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355400/PURPOSE To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with ...
Chehade, M., Siggs, O.M., Siggs, Owen M, Mackey, D.A., Craig, J.E., Craig, Jamie E, Awadalla, M.S., Hewitt, A.W., Awadalla, Mona S, Roos, B.E., Burdon, K.P., Chen, Simon, Mackey, David A, Hewitt, Alex W, Fingert, J.H., Graham, Stuart L, Chehade, Mark, Souzeau, E., Zhou, T., Zhou, Tiger, Roos, Benjamin R, Galanopolous, A., Galanopoulos, Anna, Fingert, John H, Souzeau, Emmanuelle, Chen, S., Holmes, Richard, Ridge, B., Ridge, Bronwyn, Holmes, R., Graham, S.L., Burdon, Kathryn Penelope   +31 more
core   +1 more source

A novel quinazolinone insulin receptor inhibitor and its synergy with an EGFR inhibitor in glucose‐driven glioblastoma

Molecular Oncology, EarlyView.
The novel styrylquinazolinone‐based molecule W1B effectively suppresses glioblastoma by inhibiting IGF1R and EGFR. In high‐glucose microenvironments driving tumor resistance, W1B acts synergistically with the EGFR inhibitor dacomitinib. This combination safely blocks compensatory survival signaling in zebrafish xenograft models. Showcasing promising in
Patryk Rurka, Wioleta Cieślik, Wojciech Płaziński, Katarzyna Stępnik, Anna Boguszewska‐Czubara, Elżbieta Kot, Robert Musioł, Mateusz Jasica, Anna Mrozek‐Wilczkiewicz, Katarzyna Malarz   +9 more
wiley   +1 more source

Elastic Net Models Based on DNA Copy Number Variations Predicts Clinical Features, Expression Signatures, and Mutations in Lung Adenocarcinoma. [PDF]

Front Genet, 2021
Xiang Y, Zou X, Shi H, Xu X, Wu C, Zhong W, Wang J, Zhou W, Zeng X, He M, Wang Y, Huang L, Wang X.   +12 more
europepmc   +1 more source