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Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.
Turk Arch Pediatr
January 2025
Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia.
Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF). Materials and Methods: In the retrospective cohort study, the authors included data from the Russian national registry of MPS II. Results: The prevalence of MPS II in RF is 0.
View Article and Find Full Text PDFAutoGP: An Intelligent Breeding Platform for Enhancing Maize Genomic Selection.
Plant Commun
January 2025
National Key Laboratory of Crop Genetic Improvement, Huazhong Agricultural University, Wuhan 430070, China; Hubei Hongshan Laboratory, Hubei, China. Electronic address:
In the face of climate change and the growing global population, there is an urgent need to accelerate the development of high-yielding crop varieties. To this end, vast amounts of genotype-to-phenotype data have been collected, and many machine learning (ML) models have been developed to predict phenotype from a given genotype. However, the requirement for high densities of single-nucleotide polymorphisms (SNPs) and the labor-intensive collection of phenotypic data are hampering the use of these models to advance breeding.
View Article and Find Full Text PDFGoFCards: an integrated database and analytic platform for gain of function variants in humans.
Nucleic Acids Res
January 2025
National Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Center for Medical Genetics, School of Life Sciences, Central South University, No. 87 Xiangya Road, Furong District, Changsha, Hunan 410008, China.
Article Synopsis
- Gain-of-function (GOF) variants enhance or change protein functions and are crucial for understanding diseases, but identifying them is tough due to scattered data and limited databases.
- The authors reviewed existing research to gather 3089 single-nucleotide variants and 72 small insertions/deletions across 579 genes linked to 1299 diseases, combining this with 3.5 million predicted GOF variants and employing a custom scoring system to rank their significance.
- They created GoFCards, a user-friendly database that allows geneticists and clinicians to easily access and analyze GOF variants, providing extensive annotations and the ability to prioritize variants even for those with limited bioinformatics experience.
Beyond Recycling Antibodies: Crovalimab's Molecular Design Enables Four-Weekly Subcutaneous Injections for PNH Treatment.
Int J Mol Sci
October 2024
Department of Hematology and Oncology, Graduate School of Medicine, Faculty of Medicine, Osaka University, Osaka 565-0871, Japan.
The advent of recycling antibodies, leveraging pH-dependent antigen binding and optimized FcRn interaction, has advanced the field of antibody therapies, enabling extended durability and reduced dosages. Eculizumab (Soliris) demonstrated the efficacy of C5 inhibitors for paroxysmal nocturnal hemoglobinuria (PNH), while its derivative, ravulizumab (Ultomiris), recognized as a recycling antibody, extended the dosing intervals. However, limitations including intravenous administration and inefficacy in patients with the R885H single-nucleotide polymorphism (SNP) in C5 could necessitate alternative solutions.
View Article and Find Full Text PDFThe clinical application of affected-embryo-based SNP haplotype analysis for patients with de novo pathogenic mutations in PGT-M cycles.
Arch Gynecol Obstet
December 2024
Center for Reproductive Medicine and Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, 210008, China.
Purpose: In preimplantation genetic testing for monogenic/single gene disorders (PGT-M) cycles, direct detection of the pathogenic mutation combined with indirect haplotype analysis are recommended to achieve accurate diagnosis. However, it poses a challenge to conduct haplotype analysis for patients carried de novo pathogenetic mutations or without no identified haplotype in families. Herein, the strategy of affected-embryo-based haplotype analysis was implemented in clinical practice to provide a convenient, economical and effective way for such patients.
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