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Variable penetrance of Nab3 granule accumulation quantified by a new tool for high-throughput single-cell granule analysis
Reorganization of cellular proteins into subcellular compartments, such as the concentration of RNA-binding proteins into cytoplasmic stress granules...
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Toxo: a library for calculating penetrance tables of high-order epistasis models
BackgroundEpistasis is defined as the interaction between different genes when expressing a specific phenotype. The most common way to characterize...
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Association between single-nucleotide polymorphisms in miRNA and breast cancer risk: an updated review
Breast cancer (BC), a heterogeneous, aggressive illness with high mortality, is essentially a genomic disease. While the high-penetrance genes BRCA1 ...
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Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
BackgroundCopy number variants (CNVs) linked to genes involved in nervous system development or function are often associated with neuropsychiatric...
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Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors
The spectrum of germline predisposition in pediatric cancer continues to be realized. Here we report 751 patients with solid tumors who underwent...
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The length of uninterrupted CAG repeats in stem regions of repeat disease associated hairpins determines the amount of short CAG oligonucleotides that are toxic to cells through RNA interference
Extended CAG trinucleotide repeats (TNR) in the genes huntingtin ( HTT ) and androgen receptor ( AR ) are the cause of two progressive neurodegenerative...
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Intragenic compensation through the lens of deep mutational scanning
A significant fraction of mutations in proteins are deleterious and result in adverse consequences for protein function, stability, or interaction...
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Cilia regeneration requires an RNA splicing factor from the ciliary base
Cilia are microtubule-based organelles projected from most eukaryotic cell surfaces performing cell motility and signaling. Several previously...
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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular...
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Unravelling transmission ratio distortion across the bovine genome: identification of candidate regions for reproduction defects
BackgroundBiological mechanisms affecting gametogenesis, embryo development and postnatal viability have the potential to alter Mendelian inheritance...
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Role of XPG Gene Polymorphism towards Colorectal Cancer Susceptibility: A Case Control Study
XPG protein is a crucial component of the nucleotide excision repair pathway. Various single nucleotide polymorphisms of XPG gene have been reported...
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DUOX1 and DUOX2, DUOXA1 and DUOXA2
DUOX1 and DUOX2 constitute a subgroup of long (~1500 amino acids) seven transmembrane domain NADPH oxidases. In addition to the catalytic core common...
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Environmental Temperature, but Not Male Age, Affects Wolbachia and Prophage WO Thereby Modulating Cytoplasmic Incompatibility in the Parasitoid Wasp, Habrobracon Hebetor
Wolbachia is an endosymbiotic bacterium found in many species of arthropods and manipulates its host reproduction. Cytoplasmic incompatibility (CI)...
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CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy
The relationship between congenital defects of the brain and facial anomalies was proven. The Hedgehog signaling pathway plays a fundamental role in...
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Nab3 nuclear granule accumulation is driven by respiratory capacity
Numerous biological processes involve proteins capable of transiently assembling into subcellular compartments necessary for cellular functions. One...
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Overriding Mendelian inheritance in Arabidopsis with a CRISPR toxin–antidote gene drive that impairs pollen germination
Synthetic gene drives, inspired by natural selfish genetic elements and transmitted to progeny at super-Mendelian (>50%) frequencies, present...
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Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome
Jacobsen syndrome (JS) is caused by the terminal deletion at the long arm of chromosome 11. It is characterized by growth retardation, intellectual...
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Genetic Interaction, Epistasis, Modifiers
Biological processes in an organism are interconnected and regulated by a network of genes. Therefore, the genetic dissection of their functional...
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Usefulness of alien sterilizing cytoplasms for the hybrid breeding of triticale (xTriticosecale Wittmack): preliminary results
To be useful for cereal breeding, cytoplasmic male sterility (CMS) should express the complete sterility of maternal lines and the full restoration...
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An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis
Transient receptor potential cation channel-6 ( TRPC6 ) gene mutations cause familial focal segmental glomerulosclerosis (FSGS), which is inherited as...
