Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Approximately 20% of breast cancer cases are attributed to increased family risk, yet variation in BRCA1/2 can only explain 20%-25% of cases. Historically, only single gene or single variant testing were common in at-risk family members, and further sequencing studies were rarely offered after negative results. In this study, we applied an efficient and inexpensive targeted sequencing approach to provide molecular diagnoses in 245 human samples representing 134 BRCA mutation-negative (BRCAX) hereditary breast and ovarian cancer (HBOC) families recruited from 1973 to 2019 by Dr.

Using Taxol-sensitized budding yeast to investigate the effect of microtubule stabilization on anaphase onset.

The microtubule (MT)-stabilizing drug Taxol (paclitaxel) is a commonly used tool to investigate MT dynamics and MT-dependent processes. Here, we present a protocol for using Taxol-sensitized budding yeast to investigate the effect of microtubule stabilization on anaphase onset. We describe steps for establishing a log phase culture, synchronizing cells in G1, arresting in metaphase, and releasing cells into Taxol.

Bimetallic nanozyme mediated urine glucose monitoring through discriminant analysis of colorimetric signal.

The ability to detect glucose concentrations in human urine offers a non-invasive approach to monitor changes in blood glucose, kidney health and vascular complications associated with diabetes. We show the potential of employing catalytically active nanoparticles directly grown on textiles to produce a dose-dependent colorimetric sensor for glucose. We use a galvanic replacement (GR) reaction for the synthesis of bimetallic nanoparticles.

Erratum: Hussain et al. Increased Crystallization of CuTCNQ in Water/DMSO Bisolvent for Enhanced Redox Catalysis. 2021, , 954.

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Increased Crystallization of CuTCNQ in Water/DMSO Bisolvent for Enhanced Redox Catalysis.

Controlling the kinetics of CuTCNQ (TCNQ = 7,7,8,8-tetracyanoquinodimethane) crystallization has been a major challenge, as CuTCNQ crystallizing on Cu foil during synthesis in conventional solvents such as acetonitrile simultaneously dissolves into the reaction medium. In this work, we address this challenge by using water as a universal co-solvent to control the kinetics of crystallization and growth of phase I CuTCNQ. Water increases the dielectric constant of the reaction medium, shifting the equilibrium toward CuTCNQ crystallization while concomitantly decreasing the dissolution of CuTCNQ.

Non-invasive detection of glucose in human urine using a color-generating copper NanoZyme.

Renal complications are long-term effect of diabetes mellitus where glucose is excreted in urine. Therefore, reliable glucose detection in urine is critical. While commercial urine strips offer a simple way to detect urine sugar, poor sensitivity and low reliability limit their use.

Activity of diphenyl ether benzyl amines against Human African Trypanosomiasis.

Insect-borne parasite Trypanosoma brucei plagues humans and other animals, eliciting the disease Human African trypanosomiasis, also known as African sleeping sickness. This disease poses the biggest threat to the people in Sub-Saharan Africa. Given the high toxicity and difficulties with administration of currently available drugs, a novel treatment is needed.

Checkpoint Proteins Bub1 and Bub3 Delay Anaphase Onset in Response to Low Tension Independent of Microtubule-Kinetochore Detachment.

The spindle assembly checkpoint (SAC) delays anaphase onset until sister chromosomes are bound to microtubules from opposite spindle poles. Only then can dynamic microtubules produce tension across sister kinetochores. The interdependence of kinetochore attachment and tension has proved challenging to understanding SAC mechanisms.

Discrete regions of the kinesin-8 Kip3 tail differentially mediate astral microtubule stability and spindle disassembly.

To function in diverse cellular processes, the dynamic properties of microtubules must be tightly regulated. Cellular microtubules are influenced by a multitude of regulatory proteins, but how their activities are spatiotemporally coordinated within the cell, or on specific microtubules, remains mostly obscure. The conserved kinesin-8 motor proteins are important microtubule regulators, and family members from diverse species combine directed motility with the ability to modify microtubule dynamics.

Nanostructured silver fabric as a free-standing NanoZyme for colorimetric detection of glucose in urine.

Enzyme-mimicking catalytic nanoparticles, more commonly known as NanoZymes, have been at the forefront for the development of new sensing platforms for the detection of a range of molecules. Although solution-based NanoZymes have shown promise in glucose detection, the ability to immobilize NanoZymes on highly absorbent surfaces, particularly on free-standing substrates that can be feasibly exposed and removed from the reaction medium, can offer significant benefits for a range of biosensing and catalysis applications. This work, for the first time, shows the ability of Ag nanoparticles embedded within the 3D matrix of a cotton fabric to act as a free-standing peroxidase-mimic NanoZyme for the rapid detection of glucose in complex biological fluids such as urine.

Effect of C-terminal modification on the self-assembly and hydrogelation of fluorinated Fmoc-Phe derivatives.

The development of hydrogels resulting from the self-assembly of low molecular weight (LMW) hydrogelators is a rapidly expanding area of study. Fluorenylmethoxycarbonyl (Fmoc) protected aromatic amino acids derived from phenylalanine (Phe) have been shown to be highly effective LMW hydrogelators. It has been found that side chain functionalization of Fmoc-Phe exerts a significant effect on the self-assembly and hydrogelation behavior of these molecules; fluorinated derivatives, including pentafluorophenylalanine (F(5)-Phe) and 3-F-phenylalanine (3-F-Phe), spontaneously self-assemble into fibrils that form a hydrogel network upon dissolution into water.

Infant gaze, head, face and self-touch at 4 months differentiate secure vs. avoidant attachment at 1 year: a microanalytic approach.

The study attempted to distinguish avoidant vs. secure infants at 1 year from 4-month infant behavior only, during a face-to-face play interaction with the mother. Thirty-five 4-month-old infants were coded second by second for infant gaze, head orientation, facial expression and self-touch/mouthing behavior.