Publications by authors named "Emily Lancaster"
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.
View Article and Find Full Text PDFAs global temperatures continue to rise, accurate predicted species distribution models will be important for forecasting the movement of range-shifting species. These predictions rely on measurements of organismal thermal tolerance, which can be measured using classical threshold concepts such as Arrhenius break temperatures and critical thermal temperatures, or through ecologically relevant measurements such as the temperature at which reproduction and growth occur. Many species, including invasive species, exhibit thermal plasticity, so these thresholds may change based on ambient temperature, life stage, and measurement techniques.
View Article and Find Full Text PDFSouthern California experienced unprecedented megadrought between 2012 and 2018. During this time, Malosma laurina, a chaparral species normally resilient to single-year intense drought, developed extensive mortality exceeding 60% throughout low-elevation coastal populations of the Santa Monica Mountains. We assessed the physiological mechanisms by which the advent of megadrought predisposed M.
View Article and Find Full Text PDFArticle Synopsis
- - NahE is an enzyme that converts specific compounds into benzaldehyde and pyruvate, playing a significant role in degrading naphthalene, a harmful environmental pollutant.
- - The enzyme belongs to the N-acetylneuraminate lyase subgroup and has critical active site residues, including Lys183 and Tyr155, which are essential for its function.
- - Experiments involving mutations of key amino acids revealed how changes impact the enzyme's catalytic ability, with certain mutations significantly reducing its effectiveness, while others had minimal effects, providing valuable insights into its mechanism.
Article Synopsis
- The discovery of asymmetric trimers within the tautomerase superfamily introduces new structural diversity and enhances the understanding of this complex protein group.
- By using native mass spectrometry and ultraviolet photodissociation, researchers can quickly and sensitively distinguish between symmetric and asymmetric trimers based on their structural behavior under certain conditions.
- The findings reveal that asymmetric trimers are more stable and show unique unfolding pathways compared to symmetric trimers, which may have implications for the evolutionary development and classification of the tautomerase superfamily.
Article Synopsis
- - The study challenges the long-held belief that the amino-terminal proline (Pro1) is essential for tautomerase superfamily (TSF) enzymes, revealing that 346 out of over 11,000 examined TSF sequences lack Pro1, mainly within the malonate semialdehyde decarboxylase subgroup.
- - Among those lacking Pro1, four sequences were found to retain Pro1 and were analyzed through various studies; one promising sequence demonstrated both decarboxylase and tautomerase activities and was modified at Pro1 for further investigation.
- - The crystallographic structure of the enzyme provided insights into its activity mechanisms, highlighting conserved residues that may be crucial for enzyme function, and suggesting potential directions
Article Synopsis
- The tautomerase superfamily (TSF) consists of enzymes with a common structural design featuring a β-α-β motif, where a specific N-terminal proline serves an essential catalytic function.
- Evolutionary analysis indicates a gene fusion event led to the diverse functions seen in TSF today, along with the identification of linking proteins that connect different protein subgroups in the superfamily.
- Among the newly identified linkers (N1 and N2), N1 retains full activity for dehalogenation, while N2, despite lacking a crucial active site residue for its subgroup, exhibits some activity and improved hydratase capabilities.
Purpose: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome).
Methods: Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers.
Results: We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exon deletion), most proven to be de novo, and clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript.
Article Synopsis
- - SOX6 is part of a group of genes that encode transcription factors critical for controlling cell behavior during development, with involvement in processes like neurogenesis and skeletogenesis.
- - Research identified 19 individuals from 17 different families with various alterations in the SOX6 gene, all displaying developmental delays and intellectual disabilities, along with other possible features like ADHD and autism.
- - The study found that different types of genetic variants in SOX6, including deletions and missense changes, lead to its inactivation, suggesting that a lack of SOX6 function is linked to a specific neurodevelopmental disorder, though no direct genotype-phenotype relationships were established.
Article Synopsis
- * A specific subgroup, the 4-oxalocrotonate tautomerase (4-OT), shows diversity with both symmetric and asymmetric trimer formations, depending on the arrangement of monomers, which leads to different protein interfaces.
- * Bioinformatics analysis highlighted two distinct clusters within a subset of 4-OT proteins, correlating their structural arrangements (asymmetric vs. symmetric trimers) with variations in salt bridge formations, suggesting functional implications that
Objectives: A hostile proximal neck anatomy is the most common cause of abdominal aorta endovascular aneurysm repair failure leading to a higher risk of device migration, proximal type I endoleak, and subsequent open surgical repair. Endostapling is a technique to attain better fixation of the endograft to the aortic wall, and the only available device in the USA is Aptus Heli-FX EndoAnchor system (Medtronic Vascular, Santa Rosa, CA, USA). Preliminary data have shown efficacy and safety of its use, and the aim of this study is to assess device-related adverse events in real-world clinical use.
View Article and Find Full Text PDFUsing euthanasia to manage dog and cat overpopulation causes health issues and emotional stress in employees involved, increases staff turnover, and has financial, moral and ethical ramifications for communities. Welfare agencies and local government agencies (councils) share responsibility for managing companion animal populations. This study investigated Australian councils in the state of Victoria, to identify strategies used to reduce euthanasia.
View Article and Find Full Text PDFA lack of published information documenting problems with the microchip data for the reclaiming of stray animals entering Australian shelters limits improvement of the current microchipping system. A retrospective study analysing admission data for stray, adult dogs (n = 7258) and cats (n = 6950) entering the Royal Society for the Prevention of Cruelty to Animals (RSPCA) Queensland between January 2012 and December 2013 was undertaken to determine the character and frequency of microchip data problems and their impact on outcome for the animal. Only 28% of dogs and 9% of cats were microchipped, and a substantial proportion (37%) had problems with their data, including being registered to a previous owner or organisation (47%), all phone numbers incorrect/disconnected (29%), and the microchip not registered (14%).
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