Anne Patrick results 192
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A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedNARA Subscribed
Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). Here we describe three participants with HLD features and a previously unreported homozygous DEGS1 5′ splice site variant, c.825+4_825 + 5delAGinsTT (NM_003676.4). We used next-generation DNA and transcriptome sequencing, cell-based splicing assays, and tandem mass spectrometry to detect...
Black Carp M ylopharyngodon piceus reproductive development and maturation in the M ississippi R iver basinNARA Subscribed
Black Carp Mylopharyngodon piceus are native to most major east Asian drainages and are internationally cultured for use as a food‐fish or a biological control for molluscs. We describe the reproductive biology of Black Carp from the growing invasive population in the Mississippi River basin through examination of incidental commercial fisheries and biologist captures. Our objectives were to assess (1) reproductive development...
Global patterns and regional insights into kelp forest protection, restoration, and stewardshipNARA Subscribed
Kelp forests are among the most extensive and productive coastal ecosystems, yet they remain underrepresented in global conservation policy despite widespread declines driven by interacting global- (i.e., ocean warming, marine heatwaves) to local-scale stressors. At the same time, kelp conservation and restoration efforts are expanding rapidly across regions, but measures of success and syntheses tend to primarily focus on eco...
SNAPSHOT USA 2024: Year 6 of the Coordinated National Camera Trap Survey of the United StatesNARA Subscribed
Motivation SNAPSHOT USA is an annual, multi‐contributor camera trap survey of mammals across the United States. The growing SNAPSHOT USA dataset is intended for tracking the spatial and temporal responses of mammal populations to changes in land use, land cover and climate. These data will be useful for exploring the drivers of spatial and temporal changes in relative abundance and distribution, as well as the impacts of speci...
Migratory bird distributions are inherently dynamic and vary with seasons, but are also increasingly influenced by climate and land-use changes. Understanding these shifts is crucial for interpreting ecosystem dynamics and guiding future conservation efforts. In this study, we analysed 187,779 resightings (1985–2021) of 5,120 colour-banded Common Cranes ( Grus grus ), originating from 8 northern European countries, to examine...
Scleroderma mushroom poisoning in France (2000–2022): clinical patterns and early signals of a possible emerging mycotoxic syndromeNARA Subscribed
Mushroom poisoning caused by species of the genus Scleroderma (“earthballs”) is generally considered benign and limited to mild gastrointestinal symptoms. However, recent clinical observations suggest a wider spectrum of toxicity. This retrospective study analyzed 134 Scleroderma -related cases reported to French Poison Control Centers between 2000 and 2022, representing the largest national series to date. Most exposures were...
A Chromosome Inversion Creates a Supergene for Sex and Colour in Lake Malawi CichlidsNARA Subscribed
Cichlid fishes have the highest rates of evolutionary turnover of sex chromosomes among vertebrates. Many large structural polymorphisms in the radiation of cichlids in Lake Malawi are associated with sex chromosomes and may also carry adaptive variation. Here, we investigate the structure and evolutionary history of an inversion polymorphism that includes both a ZW sex locus and an orange‐blotch colour polymorphism in the roc...
Rationale Negative affect plays a prominent role in the maintenance of alcohol use disorder (AUD) and has been identified as a risk factor for relapse to alcohol. To date, however, treatment options that target negative affective states and consecutive relapse risk in AUD are insufficient. Oxytocin (OXY) might be a promising approach for addressing negative affective states and resulting motivation to use alcohol. Objectives W...
A physically and mentally active lifestyle relates to younger brain and cognitive ageNARA Subscribed
Resistance to age-related pathological changes (brain maintenance), including Alzheimer’s disease, cerebrovascular disease, and neurodegeneration may promote cognitive resilience in aging. However, how lifestyle and health profiles relate to successful cognitive and brain aging remains poorly understood. In a novel, deeply phenotyped cohort of 211 cognitively unimpaired older adults (age = 71.0 ± 7.4 years, 46% female), we cha...