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Hereditary haemorrhagic telangiectasia.
Nat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
View Article and Find Full Text PDFSynergy and competition during the anaerobic degradation of N-acetylglucosamine in a methane-emitting, subarctic, pH-neutral fen.
Front Microbiol
December 2024
Institute of Microbiology, Leibniz University Hannover, Hannover, Germany.
Peatlands are invaluable but threatened ecosystems that store huge amounts of organic carbon globally and emit the greenhouse gasses carbon dioxide (CO) and methane (CH). Trophic interactions of microbial groups essential for methanogenesis are poorly understood in such systems, despite their importance. Thus, the present study aimed at unraveling trophic interactions between fermenters and methanogens in a nitrogen-limited, subarctic, pH-neutral fen.
View Article and Find Full Text PDFThe value of Mentzer index in the diagnosis of children thalassemia minor.
Hematology
December 2024
Department of Laboratory Medicine, Shenzhen Pediatrics Institute of Shantou University Medical College, Shenzhen, People's Republic of China.
Objective: To explore the effect of the Mentzer Index (MI) in screening for children thalassemia (TT) minor.
Methods: We determined the MI cutoff value of diagnosing TT minor in children by utilizing a receiver operating characteristic (ROC) curve. Samples with MI values below this threshold, and no detectable gene mutations or IDA were further analyzed using Sanger sequencing or specific primer GAP-PCR.
Assessment of genetic biodiversity and association of micronutrients and agronomic traits using microsatellites and staining methods which accelerates high-micronutrients variety selections within different wheat groups.
Sci Rep
November 2024
International Maize and Wheat Improvement Center (CIMMYT), Apdo postal 6-641, 06600, Mexico, Mexico.
Article Synopsis
- The research focused on evaluating genetic diversity in wheat varieties to enhance grain levels of iron (Fe) and zinc (Zn) and understand their relationship with agronomic traits.
- 42 wheat genotypes, including commercial cultivars and landraces, were examined over two years, revealing that landraces had higher Fe and Zn levels but lower yields than commercial types.
- High heritability estimates indicate genetic factors significantly influence micronutrient content, and specific microsatellite markers showed associations that could aid in breeding programs for higher micronutrient crops.
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.
Eur J Hum Genet
January 2025
Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Friedreich's Ataxia (FRDA) is the most common hereditary ataxia and is mainly caused by biallelic GAA repeat expansion in the FXN gene. Rare patients carrying FXN point mutations or intragenic deletions are reported. We describe the first FRDA patient with a chromosome 9 segmental Uniparental isoDisomy (UPiD) unmasking a homozygous FXN expansion initially undetected by TP-PCR.
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