Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of glucose-6-phosphatase (G6Pase) that is expressed in the liver, kidney, and intestinal mucosa. Clinical manifestations include short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. To elucidate a spectrum of the G6Pase gene mutations and their frequencies, we analyzed mutations in 51 unrelated Japanese patients with GSD-Ia. The most prevalent mutation was g727t, accounting for 88 of 102 mutant alleles examined, followed by R170X mutation, which accounted for 6 mutant alleles, and R83H mutation which was observed in 3 mutant alleles. In addition, 3 different, novel mutations, IVS1-1g
Download full-text PDF
Source
Publication Analysis
Top Keywords
Similar Publications
Monitoring molecular markers associated with antimalarial drug resistance in south-east Senegal from 2021 to 2023.
J Antimicrob Chemother
January 2025
Institut Pasteur de Dakar, Immunophysiopathology and Infectious Diseases Department, G4-Malaria Experimental Genetic Approaches and Vaccines Unit, Dakar, Senegal.
Background: Since 2006, artemisinin-based combination therapies (ACTs) have been introduced in Senegal in response to chloroquine resistance (CQ-R) and have shown high efficacy against Plasmodium falciparum. However, the detection of the PfKelch13R515K mutation in Kaolack, which confers artemisinin resistance in vitro, highlights the urgency of strengthening antimalarial drug surveillance to achieve malaria elimination by 2030.
Objective: To assess the proportion of P.
Sickle Cell Anemia and Inflammation: A Review of Stones and Landmarks Paving the Road in the Last 25 Years.
Hematol Rep
January 2025
Laboratory of Immunobiology and Immunogenetics, Post Graduation Program in Genetics and Molecular Biology (PPGBM), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 91501-970, Brazil.
A quarter of a century ago, sickle cell disease (SCD) was mainly viewed as a typical genetic disease inherited as a classical Mendelian trait. Therefore, the main focus concerning SCD was on diagnosis, meaning, genotyping, and identification of homozygous and heterozygous individuals carrying the relevant HbS mutant allele. Nowadays, it is well established that sickle cell disease is indeed the result of homozygosis for the HbS variant, although this single feature is not capable of explaining the highly diverse clinical presentation of SCD.
View Article and Find Full Text PDFAnalysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation.
Genes Cancer
January 2025
Laboratorio de Interacciones Biomoleculares y Cáncer, Instituto de Física Universidad Autónoma de San Luis Potosí, San Luis Potosí 78210, México.
is a gene that codes for a tumour suppressor protein involved in various types of cancer. It was first described in retinoblastoma and is segregated as an autosomal dominant trait with high penetrance. In 1971, Knudson proposed his hypothesis of the two hits, where two mutational events are required to initiate tumour progression.
View Article and Find Full Text PDFThe allelic mutation of NBS-LRR gene causes premature senescence in wheat.
Plant Sci
January 2025
Institute of Crop Sciences, Chinese Academy of Agricultural Sciences / State Key Laboratory of Crop Gene Resources and Breeding / National Center of Space Mutagenesis for Crop Improvement, Beijing, China. Electronic address:
Premature senescence has a significant impact on the yield and quality of wheat crops. The process is controlled by multiple and intricate genetic pathways and regulatory elements, whereby the discovery of additional mutants provides important insights into the molecular basis of this important trait. Here, we developed a premature senescence wheat mutant je0874, its leaves started to show yellow before heading stage; with plant growth and development, the degree of yellowing worsened rapidly, and chlorophyll content in flag leaf was reduced by 93.
View Article and Find Full Text PDFIsolation and characterization of haploid heterothallic beer yeasts.
Appl Microbiol Biotechnol
January 2025
Department of Microbiology and Biochemistry, Hochschule Geisenheim University, Von-Lade-Straße 1, 65366, Geisenheim, Germany.
Improving ale or lager yeasts by conventional breeding is a non-trivial task. Domestication of lager yeasts, which are hybrids between Saccharomyces cerevisiae and Saccharomyces eubayanus, has led to evolved strains with severely reduced or abolished sexual reproduction capabilities, due to, e.g.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!