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Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
BackgroundOne of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in...
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Genome-wide analysis of histone modifications can contribute to the identification of candidate cis-regulatory regions in the threespine stickleback fish
BackgroundCis -regulatory mutations often underlie phenotypic evolution. However, because identifying the locations of promoters and enhancers in...
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Predictors of gamete donation: a cross sectional survey study
PurposeIn 2015, assisted reproductive technology (ART) accounted for 1.7% of all U.S. births, donor eggs accounted for over 17,000 started cycles in...
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Identification of consensus homozygous regions and their associations with growth and feed efficiency traits in American mink
The recent chromosome-based genome assembly and the newly developed 70K single nucleotide polymorphism (SNP) array for American mink ( Neogale vison )...
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Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis
Biallelic pathogenic variants in the gene CC2D2A cause a spectrum of ciliopathies, including Joubert and Meckel syndrome, which frequently involve...
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Greater Self-reported Health is Associated with Lower Disgust: Evidence for Individual Calibration of the Behavioral Immune System
A key theoretical component of the behavioral immune system is its functional flexibility, where an individual’s reaction to pathogenic stimuli is...
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A Forest Filled with Memories: The Role of Public Archaeology in the Revitalisation of Lumber Camp Heritage in Témiscouata, Québec (Canada)
During the first half of the 20th century, the lumber industry played an instrumental role in the economic development of the Témiscouata valley in...
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TFscope: systematic analysis of the sequence features involved in the binding preferences of transcription factors
Characterizing the binding preferences of transcription factors (TFs) in different cell types and conditions is key to understand how they...
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The obesity-related mutation gene on nonalcoholic fatty liver disease
The prevalence of overweight and obesity is increasing, leading to metabolic-associated fatty liver disease (MAFLD) characterized by excessive...
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Obstetric cholestasis and its impact on the maternal outcome
AimTo evaluate the association of GDM and pre-eclampsia in women with obstetric cholestasis.
Materials and methodsPregnant women with > 28 weeks...
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New data and insights on the secondary glass workshop of Comacchio (Italy): MgO contents, steatite crucibles and alternatives to recycling
This study introduces a collection of 33 glass samples, encompassing production indicators (blocks, fluidity tests, drops, cuts and wastes) and...
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sciMET-cap: high-throughput single-cell methylation analysis with a reduced sequencing burden
DNA methylation is a key component of the mammalian epigenome, playing a regulatory role in development, disease, and other processes. Robust,...
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A possible role of lncRNA MEG3 and lncRNA MAFG-AS1 on miRNA 147-b in the pathogenesis of Behcet’s disease
Behcet’s disease (BD) is a multisystem disease with altered Toll-like receptors (TLRs) on macrophages. Long noncoding RNA Maternally expressed gene 3...
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Bone Turnover Markers Levels in a Cohort of Egyptian Children with Sickle Cell Disease
Bony complications are variable and common in sickle cell disease. Bone turnover markers are a reflection of bone new bone formation or degradation....
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Development of a prognostic risk model of uveal melanoma based on N7-methylguanosine-related regulators
BackgroundUveal melanoma (UVM) stands as the predominant type of primary intraocular malignancy among adults. The clinical significance of...
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Trajectory of Swaraj and the Background Philosophy of Anti-colonial Solidarity: A Discourse on the Indian Agents of Change
No oppressive ideologies, such as racism, sexism, and imperialism, disappear easily; they require strong antitheses from external forces or through...
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A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many...
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Using high-density SNP data to unravel the origin of the Franches-Montagnes horse breed
BackgroundThe Franches-Montagnes (FM) is the last native horse breed of Switzerland, established at the end of the 19th century by cross-breeding...
