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  1. A Mutation in Mediator Subunit MED16A Suppresses Nodulation and Increases Arbuscule Density in Medicago truncatula

    Nodulation in legumes is regulated to maintain carbon–nitrogen homeostasis. A systemic negative feedback pathway, Autoregulation of Nodulation (AON)...

    Diptee Chaulagain, Elise Schnabel, ... Julia Frugoli in Journal of Plant Growth Regulation
    Article 12 May 2023
  2. Mutation Work on Other Ornamental Plants

    The chapter covers mutation work (mutagens, working dose, mutants) carried out throughout the world on approximately 120 ornamental crops.
    Chapter 2023
  3. Next Generation Mutation Detection Techniques in Crops

    Forward and reverse genetic approaches are powerful ways to understand the genetics of traits of importance and to accelerate crop improvement...
    Shalu Choudhary, Jayendra Padiya, ... Venugopal Mikilineni in TILLING and Eco-TILLING for Crop Improvement
    Chapter 2023
  4. Mutation Breeding Research in Sweet Pepper

    Sweet pepper is delicious, loved, and an increasingly popular nutritional vegetable that is grown and produced in significant amounts throughout the...
    Chapter 2023
  5. Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A

    The most prevalent form of epileptic encephalopathy is Dravet syndrome (DRVT), which is triggered by the pathogenic variant SCN1A in 80% of cases....

    Maryam Alowaysi, Mohammad Al-Shehri, ... Khaled Alsayegh in Human Cell
    Article Open access 19 December 2023
  6. Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in the Patient with Brugada Syndrome and Mild QTc Shortening

    Abstract

    Brugada syndrome (BrS) is an inherited disease characterized by right precordial ST-segment elevation in the right precordial leads on...

    Denis Abramochkin, Bowen Li, ... Olga S. Sokolova in Biochemistry (Moscow)
    Article 01 March 2024
  7. Evaluation of Volumetric Bone Mineral Density, Bone Microarchitecture, and Bone Strength in Patients with Achondroplasia Caused by FGFR3 c.1138G > A Mutation

    Achondroplasia (ACH) is a skeletal disorder caused by fibroblast growth factor receptor 3 ( FGFR3 ) variants. Volumetric bone mineral density (vBMD),...

    Hanting Liang, Wenting Qi, ... Weibo **a in Calcified Tissue International
    Article 19 October 2022
  8. RNA Folding, Mutation, and Detection

    The structure of RNA molecules is absolutely critical to their functions in a biological system. RNA structure is dynamic and changes in response to...
    Kaitlin E. Klotz, Kausik Chakrabarti in RNA Amplification and Analysis
    Protocol 2024
  9. Rapid screening of point mutations by mismatch amplification mutation assay PCR

    Abstract

    Metabolic engineering frequently makes use of point mutation and saturation mutation library creation. At present, sequencing is the only...

    Feng Zhang, Zhen Yang Liu, ... Jian Zhong Xu in Applied Microbiology and Biotechnology
    Article Open access 02 February 2024
  10. Rapid Cycling and Generation Advancement for Accelerated Mutation Breeding in Sorghum

    Rapid cycling techniques have become preferred methods in recent years to speed up the plant breeding process, especially for plant varieties...
    Abdelbagi M. A. Ghanim, Adel B. Ali, ... Shoba Sivasankar in Mutation Breeding and Efficiency Enhancing Technologies for Resistance to Striga in Cereals
    Chapter Open access 2024
  11. Cell cycle gene alterations associate with a redistribution of mutation risk across chromosomal domains in human cancers

    Mutations in human cells exhibit increased burden in heterochromatic, late DNA replication time (RT) chromosomal domains, with variation in mutation...

    Marina Salvadores, Fran Supek in Nature Cancer
    Article 10 January 2024
  12. MRE11:p.K464R mutation mediates olaparib resistance by enhancing DNA damage repair in HGSOC

    Background

    Although the clinical application of PARP inhibitors has brought hope to ovarian cancer, the problem of its resistance has become...

    Xucui Zhuang, Rourou **ao, ... Chaoyang Sun in Cell & Bioscience
    Article Open access 27 September 2023
  13. A novel mutation in hERG gene associated with azithromycin-induced acquired long QT syndrome

    Background

    Mutations in human ether-à-go-go-related gene (hERG) potassium channels are closely associated with long QT syndrome (LQTS). Previous...

    Yun-Jiu Cheng, Yang Wu, ... Wen-Tao Bi in Molecular Biology Reports
    Article 16 April 2024
  14. The COL6A5-p.Glu2272* mutation induces chronic itch in mice

    Pruritus is a common irritating sensation that provokes the desire to scratch. Environmental and genetic factors contribute to the onset of pruritus....

    Ameer Abu Bakr Rasheed, Marie-Christine Birling, ... Yann Herault in Mammalian Genome
    Article 25 March 2024
  15. Coupling thermotolerance and high production of recombinant protein by CYR1N1546K mutation via cAMP signaling cascades

    In recombinant protein-producing yeast strains, cells experience high production-related stresses similar to high temperatures. It is possible to...

    Haiyan Ren, Qing Lan, ... Hong Lu in Communications Biology
    Article Open access 24 May 2024
  16. Mutation Breeding in Date Palm (Phoenix dactylifera L.)

    Date palm (Phoenix dactylifera L.) is one of the oldest fruit crops grown in the arid regions of the Arabian Peninsula, North Africa, and the Middle...
    Djamila Yatta El Djouzi, Hafida Khelafi, ... Jameel M. Al-Khayri in Mutation Breeding for Sustainable Food Production and Climate Resilience
    Chapter 2023
  17. Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review

    To study the effects of low-density lipoprotein receptor-related protein 5 ( LRP5 ) gene mutations on bone, and to open up our view of LRP5 and Wnt...

    Dichen Zhao, Lei Sun, ... Mei Li in Molecular Genetics and Genomics
    Article Open access 27 March 2023
  18. Harnessing the potential of mutation breeding, CRISPR genome editing, and beyond for sustainable agriculture

    By 2050, the global population is projected to exceed 9.5 billion, posing a formidable challenge to ensure food security worldwide. To address this...

    Nelissa Maisara Nor A’azizam, Sakshi Chopra, ... Jamilah Syafawati Yaacob in Functional & Integrative Genomics
    Article 29 February 2024
  19. Genomic dissection and mutation-specific target discovery for breast cancer PIK3CA hotspot mutations

    Background

    Recent advancements in high-throughput genomics and targeted therapies have provided tremendous potential to identify and therapeutically...

    Adam X. Miranda, Justin Kemp, ... Emily Hodges in BMC Genomics
    Article Open access 27 May 2024
  20. Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation

    Background

    Beyond the observed alterations in cellular structure and mitochondria, the mechanisms linking rare genetic mutations to the development of...

    Yeranuhi Hovhannisyan, Zhenlin Li, ... Onnik Agbulut in Stem Cell Research & Therapy
    Article Open access 02 January 2024
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