Results 161 to 170 of about 6,319,608 (297)

Clinical genetics of spondylocostal dysostosis: A mini review. [PDF]

Front Genet, 2022
Umair M, Younus M, Shafiq S, Nayab A, Alfadhel M.   +4 more
europepmc   +1 more source

Inhibition of cyclin‐dependent kinases 12/13 using CT7439 as a treatment for colorectal cancer with CDK12 upregulation

Molecular Oncology, EarlyView.
The proposed mechanism of action for the CDK12/13 inhibitor and cyclin K degrader, CT7439. CDK12/13 inhibition interrupts transcription elongation, leading to increased DNA damage that results in cell death. This agent is a potentially novel treatment option for patients with colorectal cancer. Created in BioRender. Cyclin‐dependent kinase (CDK) 12 and
Wylie K. Watlington, Divya L. Dayanidhi, Mohammad Zokaasadi, John B. Mantyh, Pelumi D. Olawuni, Gabrielle Rupprecht, Jeremy M. Force, Shannon McCall, Ashwani K. Bahl, David S. Hsu, Jason A. Somarelli   +10 more
wiley   +1 more source

Diagnosis and staging of patients with ovarian cancer: National Clinical Guideline No. 20 Annex 1: Systematic review of cost effectiveness

, 2018
The purpose of this systematic review was to identify and evaluate economic evidence to inform the clinical recommendations of this NCG. Review of the cost-effectiveness of health technologies enables guideline developers to explicitly consider how ...
HRB-CICER (Collaboration in Ireland for Clinical Effectiveness Reviews)
core  

Current and Future Applications of Artificial Intelligence in Clinical Genetics. [PDF]

Cureus
Lawrence J.
europepmc   +1 more source

In vitro and in silico modelling of ROS1‐positive non‐small cell lung cancer reveals fusion‐dependent tyrosine kinase inhibitor responses

Molecular Oncology, EarlyView.
Drug resistance limits treatment success in a subset of lung cancers driven by ROS1 gene alterations. Using patient‐derived cells and computer simulations, we studied three key mutations and how they affect five targeted drugs. The mutations reduced drug effectiveness in different ways by altering protein structure and behavior.
Farhan Ul Haq, Marc Terrones, Felicia Rodrigues Fortes, Anne Schepers, Alessia Denis, Christophe Deben, Ken Op de Beeck, Guy Van Camp, Geert Vandeweyer   +8 more
wiley   +1 more source

What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis. [PDF]

Eur J Hum Genet
Lambert DM, Stewart H, Bandiola M, Bertoli M, Butterly D, Kuismin O, Moilanen J, Rea G, Streata I, Griffin A, McGrath V, Behan D, Coen N, King S, Kilroe E, Ward AJ, Lynch SA.   +16 more
europepmc   +1 more source

Equity implications of patient-initiated recontact and follow-up in clinical genetics. [PDF]

Eur J Hum Genet, 2023
Mackley MP, Chad L.
europepmc   +1 more source

Circulating microRNA signatures of cachexia and cancer in Canis familiaris as a comparative oncology model for human disease

Molecular Oncology, EarlyView.
Circulating microRNAs as biomarkers of cachexia and sex‐specific cancer in senior dogs. In 25 client‐owned dogs, four circulating miRNAs (miR‐15a, miR‐15b, miR‐16, miR‐140) were downregulated in cachexia, with miR‐16 the strongest individual biomarker (AUC = 0.899).
Soon‐Seok Park, Kyongman An, Gyeonghwa Kim, Soo‐Nyun Choi, Hong‐Ki Lee, Keun Hur, Kyu‐Shik Jeong   +6 more
wiley   +1 more source

A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and <i>NOTCH3</i>-Related CADASIL. [PDF]

Genes (Basel)
Bogliardi FM, D'Ambrosio P, Quattromini G, Di Mario G, Pomponi MG, Miele L, Vergani E, Zampino G, Liguori A, Zollino M, Crinò A.   +10 more
europepmc   +1 more source

Preoperative circulating tumor cells integrated with imaging analysis for prognostic evaluation in head and neck squamous cell carcinoma

Molecular Oncology, EarlyView.
Detecting circulating tumor cells (CTCs) in blood before surgery may help predict outcomes in patients with head and neck squamous cell carcinoma (HNSCC). Here, we show when combined with tumor size and lymph node involvement from routine imaging, CTC status identifies high‐risk patients with poorer survival—offering a simple, minimally invasive tool ...
Susanne Flach, Gizem Abaci, Tom Huberty, Axel Lechner, Lukas Käsmann, Jens Ricke, Sophia Stöcklein, Martin Canis, Philipp Baumeister, Marianna Alunni‐Fabbroni   +9 more
wiley   +1 more source