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The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy
The endoplasmic reticulum (ER) employs stringent quality control mechanisms to ensure the integrity of protein folding, allowing only properly...
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New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome
Patients with autosomal dominant (AD) hyper-IgE syndrome (HIES) suffer from a constellation of manifestations including recurrent bacterial and...
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Gene Augmentation for Autosomal Dominant CRX-Associated Retinopathies
The cone-rod homeobox (CRX) protein is a key transcription factor essential for photoreceptor function and survival. Mutations in human CRX gene are...
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A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia
Adiponectin, encoded by ADIPOQ , is an insulin-sensitizing, anti-inflammatory, and renoprotective adipokine that activates receptors with intrinsic...
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Gene augmentation for autosomal dominant retinitis pigmentosa using rhodopsin genomic loci nanoparticles in the P23H+/− knock-in murine model
Gene therapy for autosomal dominant retinitis pigmentosa (adRP) is challenged by the dominant inheritance of the mutant genes, which would seemingly...
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Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution
Understanding the genetic and nongenetic determinants of tumor protein 53 ( TP53 ) - mutation-driven clonal evolution and subsequent transformation is a...
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Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology
This review summarizes the pathogenic mechanisms that underpin the monogenic epilepsies and discusses the potential of novel precision therapeutics...
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Mechanistic complement of autosomal dominant polycystic kidney disease: the role of aquaporins
Autosomal dominant polycystic kidney disease is a genetic kidney disease caused by mutations in the genes PKD1 or PKD2. Its course is characterized...
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A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis
Acrokeratoelastoidosis (AKE) is a rare autosomal dominant hereditary skin disease characterized by small, round-oval, flat-topped keratotic papules...
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Trametinib sensitizes KRAS-mutant lung adenocarcinoma tumors to PD-1/PD-L1 axis blockade via Id1 downregulation
BackgroundThe identification of novel therapeutic strategies to overcome resistance to the MEK inhibitor trametinib in mutant KRAS lung...
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A dominant variant in apoptosis-related gene XKR8 is relevant to hereditary auditory neuropathy
BackgroundAuditory neuropathy is an unusual type of hearing loss. At least 40% of patients with this disease have underlying genetic causes. However,...
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Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions
BackgroundTMC1 , which encodes transmembrane channel-like protein 1, forms the mechanoelectrical transduction (MET) channel in auditory hair cells,...
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A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex
This study aimed to identify possible pathogenic genes in a 90-member family with a rare combination of multiple neurodegenerative disease...
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Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis
BackgroundFocal and segmental glomerulosclerosis (FSGS) is a histological pathology that characterizes a wide spectrum of diseases. Many genes...
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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome...
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Behaviors of nucleosomes with mutant histone H4s in euchromatic domains of living human cells
Since Robert Feulgen first stained DNA in the cell, visualizing genome chromatin has been a central issue in cell biology to uncover how chromatin is...
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WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome
BackgroundWolfram syndrome type 1 gene ( WFS1 ), which encodes a transmembrane structural protein (wolframin), is essential for several biological...
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Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and weakness...
