Browsing Library Administration by Subject "Female"
Now showing items 1-11 of 11
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Age stratified, matched comparison of unicompartmental and total knee replacement.
(2020-10)BACKGROUND: Unicompartmental knee replacement (UKR) tends to provide better function but has a higher revision rate than total knee replacement (TKR). The aim was to determine if this occurred in all age groups. METHODS: ... -
Alternative splicing in seasonal plasticity and the potential for adaptation to environmental change.
(2022-02-08)Seasonal plasticity is accomplished via tightly regulated developmental cascades that translate environmental cues into trait changes. Little is known about how alternative splicing and other posttranscriptional molecular ... -
Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants
(MDPI, 2022-04-15)Background: Detecting pathogenic intronic variants resulting in aberrant splicing remains a challenge in routine genetic testing. We describe germline whole-exome sequencing (WES) analyses and apply in silico predictive ... -
Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development.
(2021-02-24)BACKGROUND: CHD8 haploinsufficiency causes autism and macrocephaly with high penetrance in the human population. Chd8 heterozygous mice exhibit relatively subtle brain overgrowth and little gene expression changes in the ... -
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
(BMC, 2021-12-03)BACKGROUND: Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination (HR) of DNA, could involve pathogenic ... -
Is obesity more likely among children sharing a household with an older child with obesity? Cross-sectional study of linked National Child Measurement Programme data and electronic health records.
(2024-04-10)BACKGROUND/OBJECTIVES: We identified household members from electronic health records linked to National Child Measurement Programme (NCMP) data to estimate the likelihood of obesity among children living with an older ... -
Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.
(2020-07-27)Soon after the discovery of BRCA1 and BRCA2 over 20 years ago, it became apparent that not all hereditary breast and/or ovarian cancer syndrome families were explained by germline variants in these cancer predisposing ... -
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene
(MDPI, 2023-01-20)FANCI was recently identified as a new candidate ovarian cancer (OC)-predisposing gene from the genetic analysis of carriers of FANCI c.1813C>T; p.L605F in OC families. Here, we aimed to investigate the molecular genetic ... -
Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics.
(2021-03)Angiotensin-converting enzyme 2 (ACE2) and accessory proteases (TMPRSS2 and CTSL) are needed for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) cellular entry, and their expression may shed light on viral ... -
Skin-resident innate lymphoid cells converge on a pathogenic effector state.
(2021-04)Tissue-resident innate lymphoid cells (ILCs) help sustain barrier function and respond to local signals. ILCs are traditionally classified as ILC1, ILC2 or ILC3 on the basis of their expression of specific transcription ... -
Subacromial balloon spacer for irreparable rotator cuff tears of the shoulder (START:REACTS): a group-sequential, double-blind, multicentre randomised controlled trial.
(2022-05-21)BACKGROUND: New surgical procedures can expose patients to harm and should be carefully evaluated before widespread use. The InSpace balloon (Stryker, USA) is an innovative surgical device used to treat people with rotator ...