Dynamic and electrophoretic light scattering measurements on microtubules at low concentrations.

The accurate characterization of microtubules is essential for understanding their roles in various biological activities in eukaryotic cellular processes. In vitro, experimental data on these systems often need more details and information on sample preparation protocols and experimental techniques. This deficiency leads to unreproducible or contradictory outcomes.

Breast cancer outcomes in women with ovarian cancer and a pathogenic germline BRCA mutation.

Background: Women with ovarian cancer (OC) and a pathogenic variant in the BRCA1 or BRCA2 genes are at increased risk of developing breast cancer (BC). Evidence for long term outcomes in these patients who undergo bilateral risk reduction mastectomy (RRM) after ovarian cancer is sparse. The aim of this study was to analyse the long-term breast cancer-related outcomes of patients who have been diagnosed with ovarian cancer and found to have BRCA1 or 2 pathogenic variants.

Vitamin D Dependent Rickets 2A With Alopecia: Three Cases With Novel Genetic Variants.

Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters.

The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).

Background: The NHS Jewish BRCA Testing Programme is offering germline and genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi Jewish (AJ) founder germline pathogenic variant (gPV) compared with the general population.Testing is offered via a self-referral, home-based saliva sampling pathway, supported by a genetic counsellor telephone helpline.