Understanding the clinical genetics of kidney stone disease using the Natera Renasight panel. [PDF]
Baca AL +13 more
europepmc +1 more source
USP7 inhibits FOXO1 activity in chronic lymphocytic leukaemia cells enhancing cell survival
CLL cells rely on BCR‐mediated signalling for survival and proliferation in part through suppression of FOXO1. FOXO1 activity is regulated by a plethora of post‐translational modifications including phosphorylation and ubiquitination. We demonstrated that dual inhibition of BCR signalling and the deubiquitinase USP7 activates FOXO1, modulating its ...
Hassan N.B. Almuhanna +8 more
wiley +1 more source
A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia. [PDF]
Ueda M.
europepmc +1 more source
Tumour‐proximal deep serum proteomics identifies biomarkers associated with ovarian cancer
New biomarkers are needed for early ovarian cancer detection. Ovarian (tumour‐proximal) and peripheral vein serum from healthy women and patients with benign or malignant tumours underwent nanoparticle‐enriched deep proteomics. Ovarian serum yielded more protein identifications and revealed tumour‐reflective signatures.
Darren Lau +9 more
wiley +1 more source
The role of clinical genetics in integrating cancer genetics care in Aotearoa New Zealand: improved access for improved outcomes. [PDF]
Jackson S +4 more
europepmc +1 more source
Attitudes of cancer patients toward ctDNA‐based liquid biopsy for follow‐up
This mixed‐methods study explored cancer patients' experiences, knowledge, and preferences regarding ctDNA‐based liquid biopsy for follow‐up. Awareness of ctDNA was low and recall of previous liquid biopsy was imperfect, yet acceptance was high.
Siddharth Chhajlani +7 more
wiley +1 more source
Correction: Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services. [PDF]
Wainstein T +10 more
europepmc +1 more source
The impact of leukocyte‐associated RNA retention on platelet RNA‐based cancer detection
Platelets carry RNA signals that may help detect cancer, but platelet samples can also retain RNA from white blood cells. We found that this retained white blood cell signal did not significantly affect machine learning cancer classification, suggesting that the cancer‐related RNA signal in platelets is largely independent of leukocyte‐associated RNA ...
Michał Sieczczyński +12 more
wiley +1 more source
Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services. [PDF]
Wainstein T +10 more
europepmc +1 more source
Cisplatin‐resistant cancer cells survive DNA‐damaging platinum‐based treatment yet remain sensitive to CuET‐induced proteotoxic stress. The distinct mechanism of action allows CuET to overcome and eliminate cisplatin‐resistant tumour cells, unless highly expressed metallothioneins (MTs) interfere with CuET, thereby highlighting MT levels as candidate ...
Stefanos Arampatzis +20 more
wiley +1 more source

