Results 91 to 100 of about 717,864 (344)

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]

open access: yes, 2019
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila   +11 more
core   +1 more source

Integrative miRNOMe profiling reveals the miR‐195‐5p–CHEK1 axis and its impact on luminal breast cancer outcomes

open access: yesMolecular Oncology, EarlyView.
In luminal (ER+) breast carcinoma (BC), miRNA profiling identified miR‐195‐5p as a key regulator of proliferation that targets CHEK1, CDC25A, and CCNE1. High CHEK1 expression correlates with worse relapse‐free survival after chemotherapy, especially in patients with luminal A subtype.
Veronika Boušková   +14 more
wiley   +1 more source

Association of high‐dose radioactive iodine therapy with PPM1D‐mutated clonal hematopoiesis in older individuals

open access: yesMolecular Oncology, EarlyView.
In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim   +11 more
wiley   +1 more source

Targeting of PTP4A3 overexpression sensitises HGSOC cells towards chemotherapeutic drugs

open access: yesMolecular 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   +3 more
wiley   +1 more source

Mutation frequencies in endometrial cancer patients of different ethnicities and tumor grades: An analytical study

open access: yesSaudi Journal of Medicine and Medical Sciences, 2019
Background: Endometrial carcinoma is a predominant health problem for women worldwide. However, there is a lack of data on genetic mutation frequencies in endometrial cancer patients of different ethnicities and tumor grades.
Mohammad A Althubiti
doaj   +1 more source

Future trends in Animal Breeding due to new genetic tecnologies

open access: yes, 2011
The Darwin theory of evolution by natural selection is based on three principles: (a) variation; (b) inheritance; and (c) natural selection. Here, I take these principles as an excuse to review some topics related to the future research prospects in ...
Toro Ibañez, Miguel Angel
core   +1 more source

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

open access: yesMolecular 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   +5 more
wiley   +1 more source

Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology

open access: yesMolecular Oncology, EarlyView.
Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts   +8 more
wiley   +1 more source

Single-subject classification of presymptomatic frontotemporal dementia mutation carriers using multimodal MRI

open access: yesNeuroImage: Clinical, 2018
Background: Classification models based on magnetic resonance imaging (MRI) may aid early diagnosis of frontotemporal dementia (FTD) but have only been applied in established FTD cases.
Rogier A. Feis   +9 more
doaj   +1 more source

Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers

open access: yesNeurobiology of Aging, 2019
Our aim was to investigate the patterns and trajectories of white matter (WM) diffusion abnormalities in microtubule-associated protein tau (MAPT) mutations carriers. We studied 22 MAPT mutation carriers (12 asymptomatic, 10 symptomatic) and 20 noncarriers from 8 families, who underwent diffusion tensor imaging (DTI) and a subset (10 asymptomatic, 6 ...
Chen, Qin   +66 more
openaire   +6 more sources

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