Results 181 to 190 of about 7,785,903 (293)

From tradition to transformation: evolving models of care in clinical genetics. [PDF]

Curr Opin Pediatr
Curd H, Gorrie A, Fennell AP.
europepmc   +1 more source

Extracellular vesicle lipidomics liquid biopsy reveals systemic and tumor microenvironment metabolic reprogramming in ovarian cancer

Molecular Oncology, EarlyView.
Extracellular vesicle (EV) lipidomic profiling of plasma and ascites from patients with high‐grade serous ovarian cancer and of ovarian cancer cell lines reveals enrichment of triglycerides (TGs), diacylglycerols (DGs), phosphatidylcholine (PCs), sphingomyelins (SMs), reflecting tumor metabolic reprogramming.
Shikha Rani, Dominic Guanzon, Andrew Lai, Katherin Scholz‐Romero, Sarah Reed, Edita Ritmejeryte, Rohan Lourie, Naven Chetty, Kaltin Ferguson, Carlos Salomon   +9 more
wiley   +1 more source

Population-Specific Mutational Spectrum of Autosomal Recessive Nonsyndromic Hearing Loss in Croatian Roma: Implications for Clinical Genetics. [PDF]

Genes (Basel)
Kutija Fučkar I, Zajc Petranović M, Martinović Klarić I, Peričić Salihović M, Barać Lauc L.   +4 more
europepmc   +1 more source

A role for eIF5A in translational control of stress‐inducible proteins in multiple myeloma cell lines

Molecular Oncology, EarlyView.
Loss of eIF5A rewires thapsigargin‐mediated endoplasmic reticulum stress responses in multiple myeloma cells by selective translation of mRNA transcripts, consequently dampening thapsigargin‐induced unfolded protein response (UPR) activation and shifting the balance from induction of apoptosis toward cell survival and proliferation.
Demi Both, Ingrid A. M. Derks, Raphaël Vanleyssem, Marine Leclercq, Najla El Hachem, Pierre Close, Eric Eldering, Marco Vincent Haselager   +7 more
wiley   +1 more source

Artificial intelligence in clinical genetics. [PDF]

Eur J Hum Genet
Duong D, Solomon BD.
europepmc   +1 more source

Predicting Atrial Fibrillation after Ischemic Stroke: Clinical, Genetics, and Electrocardiogram Modelling. [PDF]

Cerebrovasc Dis Extra, 2023
Poh MQW, Tham CH, Chee JDMS, Saffari SE, Tan KWK, Tan LW, Ng EY, Yeo CPX, Seet CYH, Xie JP, Lai JY, Singh R, Tan EK, Tu TM.   +13 more
europepmc   +1 more source

Regulation of the lncRNA NEAT1 by p53‐ΔNp63 crosstalk modulates the DNA damage response and therapeutic efficacy in HNSCC

Molecular Oncology, EarlyView.
In head and neck squamous cell carcinoma (HNSCC) p53 and p63 exert opposite roles on the transcription regulation of the lncRNA NEAT1. Under basal conditions, p53 levels are low and p63 represses NEAT1 expression. Upon genotoxic stress, p53 is rapidly induced, displacing p63 from the NEAT1 promoter leading to NEAT1 transcriptional activation and ...
Sara De Domenico, Veronica La Banca, Silvia D'Amico, Stefano Scalera, Sara Nicolai, Angelo Peschiaroli   +5 more
wiley   +1 more source

Endure or perish with use of artificial intelligence in clinical genetics settings. [PDF]

Eur J Hum Genet
Ray PP.
europepmc   +1 more source

APOBEC3 activity and DNA polymerase‐ε deficiency are associated with distinct IDH1 R132 hotspot mutations

Molecular Oncology, EarlyView.
Isocitrate dehydrogenase 1 (IDH1) mutations are highly recurrent in multiple human cancer types, including cholangiocarcinoma and glioma. IDH1 R132C is the most common IDH1 mutation in cholangiocarcinoma and likely arises from APOBEC3A‐ or APOBEC3B‐mediated deamination.
Kelly E. Butler, Bilal A. Lone, Ecem Unal, A. Rouf Banday   +3 more
wiley   +1 more source

Integrating genetics into medical curriculum: evaluating a dedicated clinical genetics module at Dow university of health sciences. [PDF]

BMC Med Educ
Hanif MI, Bari MF, Hussain M, Khan N, Hossain N, Quraishy MS, Kirmani S.   +6 more
europepmc   +1 more source