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PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.
Front Immunol
December 2024
Institute for Immunodeficiency, Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany.
Background: Hypomorphic mutations in the () gene cause a glycosylation disorder that leads to immunodeficiency. It is often associated with recurrent infections and atopy. The exact etiology of this condition remains unclear.
View Article and Find Full Text PDFThe evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma.
Hum Mol Genet
January 2025
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Xuhui District, Shanghai 200031, China.
Primary open-angle glaucoma (POAG), known as a common ocular disease with genetic heterogeneity, is characterized by progressive optic disc atrophy and visual field defects. This study aimed to assess the contribution of previously reported POAG-associated genes and investigate potential functional variations and genotype-phenotype correlations in a Han Chinese population. DNA from 500 cases and 500 controls was pooled and sequenced using a customized panel of 398 candidate genes.
View Article and Find Full Text PDFDelineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Eur J Neurol
January 2025
Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Background: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy. In this study, we aimed to analyze the genetic spectrum and describe phenotypic features in a large cohort from Türkiye.
Methods: Demographic and clinical findings were recorded.
Identification and validation of two quantitative trait loci for dwarf bunt in the resistant cultivar 'UI Silver'.
Theor Appl Genet
January 2025
Department of Plant Sciences, University of Idaho Aberdeen, R and E Center, Aberdeen, ID, 83210, USA.
Two dwarf bunt resistance QTLs were mapped to chromosome 6D, and KASP markers associated with the loci were developed and validated in a panel of regionally adapted winter wheats. UI Silver is an invaluable adapted resistant cultivar possessing the two identified QTL potentially associated with genes Bt9 and Bt10 and will be useful in future cultivar development to improve dwarf bunt resistance. Dwarf bunt, caused by Tilletia controversa, is a fungal disease of wheat that can cause complete loss of grain yield and quality during epidemics.
View Article and Find Full Text PDFGenotype-Phenotype Correlations in the Hyperparathyroidism-Jaw Tumor Syndrome.
J Clin Endocrinol Metab
January 2025
Metabolic Diseases Branch, Bldg. 10/Rm 8C-101, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892.
Establishing genotype-phenotype correlations in disorders of hereditary endocrine neoplasia is important for clinical screening, genetic counseling, prognostication, surveillance, and surgical strategy, and may also provide clues about disease pathogenesis. Important genotype-phenotype correlations are recognized, for example, in pheochromocytoma/paraganglioma and multiple endocrine neoplasia type 2A. The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism including multiple endocrine neoplasia type 1 (MEN1), and the hyperparathyroidism-jaw tumor syndrome (HPT-JT).
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