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Showing 1-20 of 5,979 results
  1. 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...

    Marta Daniela Costa, Patrícia Maciel in Cellular and Molecular Life Sciences
    Article 03 May 2022
  2. 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,...

    Nicole A. Hawkins, Nathan Speakes, Jennifer A. Kearney in Mammalian Genome
    Article Open access 11 June 2024
  3. 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...

    Nicole A. Hawkins, Toshihiro Nomura, ... Jennifer A. Kearney in Mammalian Genome
    Article Open access 04 June 2021
  4. 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...
    Chapter 2024
  5. 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...

    Jennifer A. Kearney, Letonia D. Copeland-Hardin, ... Nicole A. Hawkins in Mammalian Genome
    Article Open access 23 May 2022
  6. 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...
    Yemisrach Melkie Abebaw, Birhan Addisie Abate in Industrial Crop Plants
    Chapter 2024
  7. Whole genome sequencing facilitates intragenic variant interpretation following modifier screening in C. elegans

    Background

    Intragenic modifiers (in-phase, second-site variants) are known to have dramatic effects on clinical outcomes, affecting disease attributes...

    Francesca Jean, Susan Stasiuk, ... Maja Tarailo-Graovac in BMC Genomics
    Article Open access 13 November 2021
  8. The improvement of the in vitro plant regeneration in barley with the epigenetic modifier of histone acetylation, trichostatin A

    Genotype-limited plant regeneration is one of the main obstacles to the broader use of genetic transformation in barley breeding. Thus, develo**...

    Katarzyna Nowak, Barbara Wójcikowska, ... Małgorzata D. Gaj in Journal of Applied Genetics
    Article Open access 14 November 2023
  9. Rhes, a striatal enriched protein, regulates post-translational small-ubiquitin-like-modifier (SUMO) modification of nuclear proteins and alters gene expression

    Rhes (Ras homolog enriched in the striatum), a multifunctional protein that regulates striatal functions associated with motor behaviors and...

    Oscar Rivera, Manish Sharma, ... Srinivasa Subramaniam in Cellular and Molecular Life Sciences
    Article Open access 08 April 2024
  10. Super Sweet and Taste Modifier Proteins

    It has been found that super sweet (SS) proteins are thousands times sweeter than sucrose, required in a very small amount to sweeten the food...
    Chapter 2022
  11. Update in genetic and epigenetic causes of hypertension

    Hypertension is a heritable disease that affects one-fourth of the population and accounts for about 50% of cardiovascular deaths. The genetic basis...

    Article Open access 30 April 2024
  12. Exploring the role of symbiotic modifier peptidases in the legume − rhizobium symbiosis

    Legumes can establish a mutual association with soil-derived nitrogen-fixing bacteria called ‘rhizobia’ forming lateral root organs called root...

    Prithwi Ghosh, Joydeep Chakraborty in Archives of Microbiology
    Article 11 March 2024
  13. Genetic variation in the Y chromosome and sex-biased DNA methylation in somatic cells in the mouse

    Several lines of evidence suggest that the presence of the Y chromosome influences DNA methylation of autosomal loci. To better understand the impact...

    Enkh** Batdorj, Najla AlOgayil, ... Anna K. Naumova in Mammalian Genome
    Article Open access 01 December 2022
  14. A dual sgRNA library design to probe genetic modifiers using genome-wide CRISPRi screens

    Map** genetic interactions is essential for determining gene function and defining novel biological pathways. We report a simple to use CRISPR...

    Alina Guna, Katharine R. Page, ... Rebecca M. Voorhees in BMC Genomics
    Article Open access 30 October 2023
  15. A genetic locus complements resistance to Bordetella pertussis-induced histamine sensitization

    Histamine plays pivotal role in normal physiology and dysregulated production of histamine or signaling through histamine receptors (HRH) can promote...

    Abbas Raza, Sean A. Diehl, ... Cory Teuscher in Communications Biology
    Article Open access 06 March 2023
  16. Unveiling the population genetic structure of Iranian horses breeds by whole-genome resequencing analysis

    Preserving genetic diversity is pivotal for enhancing genetic improvement and facilitating adaptive responses to selection. This study focuses on...

    Babak Arefnejad, Mehrshad Zeinalabedini, ... Ghasem Hosseini Salekdeh in Mammalian Genome
    Article 23 March 2024
  17. Genetic diversity and recent ancestry based on whole-genome sequencing of endangered Swedish cattle breeds

    Several indigenous cattle breeds in Sweden are endangered. Conservation of their genetic diversity and genomic characterization is a priority.

    Whole-ge...

    Ajith Harish, Fernando A. Lopes Pinto, ... Anna M. Johansson in BMC Genomics
    Article Open access 22 January 2024
  18. Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s)

    Choreoacanthocytosis, one of the forms of neuroacanthocytosis, is caused by mutations in vacuolar protein sorting-associated protein A ( VPS13A ), and...

    Sima Chaudhari, Akshay Pramod Ware, ... Kapaettu Satyamoorthy in Molecular Genetics and Genomics
    Article Open access 20 May 2023
  19. Genetic Improvement of Specialty Corn for Nutritional Quality Traits

    Specialty corn has emerged as a preferred choice as food, feed, and various industrial products due to its diverse usage. Among the various types,...
    Firoz Hossain, Rajkumar U. Zunjare, ... Ravindra Kumar Kasana in Maize Improvement
    Chapter 2023
  20. Genetic analysis of flower colour variation in periwinkle (Catharanthus roseus L.) inbred lines

    Periwinkle ( Catharanthus roseus L.) is an ornamental and therapeutic herbaceous subshrub. The available literature on inheritance of flower colour in...

    Bolagam Ravikumar, K. K. Dhatt in Genetic Resources and Crop Evolution
    Article 02 November 2023
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