Results 201 to 210 of about 5,512,004 (328)

Unveiling unique protein and phosphorylation signatures in lung adenocarcinomas with and without ALK, EGFR, and KRAS genetic alterations

Molecular Oncology, EarlyView.
Proteomic and phosphoproteomic analyses were performed on lung adenocarcinoma (LUAD) tumors with EGFR, KRAS, or EML4–ALK alterations and wild‐type cases. Distinct protein expression and phosphorylation patterns were identified, especially in EGFR‐mutated tumors. Key altered pathways included vesicle transport and RNA splicing.
Fanni Bugyi, Mirjam Balbisi, Simon Sugár, Lóránd Váncza, Eszter Regős, Ilona Kovalszky, Ibolya Laczó, Tünde Harkó, Gábor Kecskeméti, Zoltán Szabó, Judit Moldvay, László Drahos, Lilla Turiák   +12 more
wiley   +1 more source

Investigating the use of a patient-facing digital app to support Lynch syndrome carriers in the management of their condition. [PDF]

J Med Genet
Hopkinson MI, Sooch R, Beauvais C, Hodgson SV, Smith TA, Jonhera M, Shepherd S, Barwell J.   +7 more
europepmc   +1 more source

ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

Genetics in Medicine, 2019
J. Goldman, S. Hahn, J. W. Catania, S. Larusse-Eckert, M. Butson, Malia C. Rumbaugh, M. Strecker, J. Roberts, W. Burke, R. Mayeux, T. Bird   +10 more
semanticscholar   +1 more source

Targeting of PTP4A3 overexpression sensitises HGSOC cells towards chemotherapeutic drugs

Molecular Oncology, EarlyView.
In HGSOC with normal KRAS expression, high PTP4A3 expression regulates autophagy activation. Conversely, in HGSOC with high KRAS expression, KRAS dictates autophagy control, and PTP4A3 is not required. When high PTP4A3 expression is inhibited, HGSOC cells are preferentially sensitised towards DNA‐damaging agents.
Ana López‐Garza, David James, Emma Creagh, James T. Murray   +3 more
wiley   +1 more source

Developing global consensus about core knowledge and skills for genetic counselor education. [PDF]

J Genet Couns
McEwen A, Ormond KE, Cathcart-King Y, HUGO Genetic Counselling Education Sub‐Committee, Paneque M.   +4 more
europepmc   +1 more source

Medical genetics in Romania. [PDF]

Journal of Medical Genetics, 1990
C Maximilian, M Covic, G Benga, D Stefanescu, M Bembea   +4 more
openaire   +3 more sources

Olaparib synergy screen reveals Exemestane induces replication stress in triple‐negative breast cancer

Molecular Oncology, EarlyView.
Screening 166 FDA‐approved anticancer drugs identifies the aromatase inhibitor Exemestane as a synergistic partner of PARP inhibitor Olaparib in BRCA‐proficient triple‐negative breast cancer. Exemestane induces ROS‐mediated replication stress, enhancing DNA damage and apoptosis alongside Olaparib.
Nur Aininie Yusoh, Liping Su, Suet Lin Chia, Xiaohe Tian, Haslina Ahmad, Martin R. Gill   +5 more
wiley   +1 more source

Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Baker EK, Derry A, Cohen JL, Chang IJ, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2020
T. Grebe, G. Khushf, Margaret Chen, Dawn Bailey, Leslie Manace Brenman, Marc S. Williams, L. Seaver, Ethical and Legal Issues Committee ACMG Social   +7 more
semanticscholar   +1 more source

RKIP overexpression reduces lung adenocarcinoma aggressiveness and sensitizes cells to EGFR‐targeted therapies

Molecular Oncology, EarlyView.
RKIP, a metastasis suppressor protein, modulates key oncogenic pathways in lung adenocarcinoma. In silico analyses linked low RKIP expression to poor survival. Functional studies revealed RKIP overexpression reduces tumor aggressiveness and enhances sensitivity to EGFR‐targeted therapies, while its loss promotes resistance.
Ana Raquel‐Cunha, Joana Pinheiro, Rui F. Marques, Patrícia Fontão, Diana Cardoso‐Carneiro, Adriana Mendes, Izabela N. F. Gomes, Ana Carolina Laus, Renato J. da Silva‐Oliveira, Rui Manuel Reis, Olga Martinho   +10 more
wiley   +1 more source