Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00401-018-1940-x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFThe Construction of a Standard Karyotype of Intermediate Wheatgrass and Its Potential Progenitor Species.
Plants (Basel)
January 2025
State Key Laboratory of Wheat Improvement, Shandong Agricultural University, Tai'an 271018, China.
The genome composition of intermediate wheatgrass (IWG; (Host) Barkworth and D.R. Dewey; 2n = 6x = 42) is complex and remains to be a subject of ongoing investigation.
View Article and Find Full Text PDFIdentification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.
Int J Mol Sci
January 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.
View Article and Find Full Text PDFA novel quantitative trait locus for barley yellow dwarf virus resistance and kernel traits on chromosome 2D of a wheat cultivar Jagger.
Plant Genome
March 2025
Department of Agronomy, Kansas State University, Manhattan, Kansas, USA.
Barley yellow dwarf (BYD) is one of the most serious viral diseases in cereal crops worldwide. Identification of quantitative trait loci (QTLs) underlining wheat resistance to barley yellow dwarf virus (BYDV) is essential for breeding BYDV-tolerant wheat cultivars. In this study, a recombinant inbred line (RIL) population was developed from the cross between Jagger (PI 593688) and a Jagger mutant (JagMut1095).
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 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!