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Modifier pathways in polyglutamine (PolyQ) diseases: from genetic screens to drug targets
Polyglutamine (PolyQ) diseases include a group of inherited neurodegenerative disorders caused by unstable expansions of CAG trinucleotide repeats in...
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Breakdown of self-incompatibility due to genetic interaction between a specific S-allele and an unlinked modifier
Breakdown of self-incompatibility has frequently been attributed to loss-of-function mutations of alleles at the locus responsible for recognition of...
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Fine map** and candidate gene analysis of Dravet syndrome modifier loci on mouse chromosomes 7 and 8
Dravet syndrome is a developmental and epileptic encephalopathy (DEE) characterized by intractable seizures, comorbidities related to developmental,...
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Modifier genes and Lynch syndrome: some considerations
Lynch Syndrome (LS) is a highly variable entity with some patients presenting at very young ages with malignancy whereas others may never develop a...
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Retinoic acid related orphan receptor α is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD
Degeneration of the macula is associated with several overlap** diseases including age-related macular degeneration (AMD) and Stargardt Disease...
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Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations
Epistatic interactions complicate the identification of variants involved in phenotypic effect. In-depth knowledge in modifiers and in pathogenic...
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Gabra2 is a genetic modifier of Dravet syndrome in mice
Pathogenic variants in epilepsy genes result in a spectrum of clinical severity. One source of phenotypic heterogeneity is modifier genes that affect...
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Mutations of epigenetic modifier genes predict poor outcome in adult acute lymphoblastic leukemia
Epigenetic modifier (EM) genes play important roles in the occurrence and progression of acute lymphoblastic leukemia (ALL). However, the prognostic...
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Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent studies have demonstrated that...
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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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Genome-wide analyses identify NEAT1 as genetic modifier of age at onset of amyotrophic lateral sclerosis
BackgroundPatients with amyotrophic lateral sclerosis (ALS) demonstrate great heterogeneity in the age at onset (AAO), which is closely related to...
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Genetic Epilepsy
The field of genetic epilepsy has witnessed remarkable advancements leading to improved diagnosis, prognosis, and management. This chapter provides a...
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Combined epigenetic/genetic study identified an ALS age of onset modifier
Age at onset of amyotrophic lateral sclerosis (ALS) is highly variable (eg, 27–74 years in carriers of the G 4 C 2 -expansion in C9orf72 ). It might be...
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Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity
Identifying genetic modifiers of familial amyotrophic lateral sclerosis (ALS) may reveal targets for therapeutic modulation with potential...
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Fine map** and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11
Pathogenic variants in SCN1A result in a spectrum of phenotypes ranging from mild febrile seizures to Dravet syndrome, a severe infant-onset...
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Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?
Patients with Duchenne muscular dystrophy (DMD) show clinically relevant phenotypic variability, despite sharing the same primary biochemical defect...
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Eip74EF is a dominant modifier for ALS-FTD-linked VCPR152H phenotypes in the Drosophila eye model
ObjectivesIn 2012, Liu et al. reported that miR-34 is an age-related miRNA regulating age-associated events and long-term brain integrity in Drosophila...
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Genetic Improvement of Industrial Crops Through Genetic Engineering
Genetic engineering is one of the modern biotechnology techniques that allows the transfer of genes between unrelated genera or species. It is being...