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A portal to gene-specific content based on NCBI's RefSeq project, information from model organism databases, and links to other resources.<br /> ... 1.9.3.1[EC] Follow NCBI. Connect with NLM. National Library of Medicine 8600 Rockville Pike Bethesda, MD 20894. Web Policies FOIA HHS Vulnerability ...
23 de nov. de 2023 · Summary. mannose-P-dolichol utilization defect 1 provided by MGI. MGI:MGI:1346040. Ensembl:ENSMUSG00000018761 AllianceGenome:MGI:1346040. protein coding. REVIEWED. SL15; LEC35; Supl15h. This gene encodes a member of the PQ-loop superfamily. A similar gene in human encodes a protein that is required for monosaccharide-P-dolichol-dependent ...
A number sign (#) is used with this entry because of evidence that ventricular septal defect-1 ... Other congenital cardiac defects caused by mutation in the GATA4 gene include atrial septal defect (ASD2; 607941), tetralogy of Fallot (see TOF, 187500), and endocardial cushion defects (AVSD4; 614430).
Gorlin syndrome. More than 225 mutations in the PTCH1 gene have been found to cause Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome), a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. Mutations in this gene prevent the production of patched-1 or lead to the production of an abnormal version of the ...
6 de sept. de 2022 · Phenotypic variations of soybean seed size 1 (sss1) compared to ‘Zhong-pin 661’ (Zp661), a soybean (Glycine max) cultivar.(a) Pods and seeds of Zp661 and the sss1 mutant. Bar, 0.5 cm. (b) Variation in 100-seed weight in Zp661 and the sss1 mutant over a 9-yr period. (c) Seed development after fertilization of Zp661 and the sss1 mutant. Bar, 0.5 cm. (d) Plot of 100-seed fresh weight during ...
14 de feb. de 2024 · Temperature-sensitive (TS) mutations in the ROOT PRIMORDIUM DEFECTIVE 1 (RPD1) gene were initially selected for their inhibitory effect on root formation in Arabidopsis. Further analysis revealed that RPD1 encodes a mitochondria-targeted RNA-binding protein family member, suggesting a role in mitochondrial gene expression and making its role in root formation enigmatic.
Single-Gene Defects. By. , MBBS, PhD, University of Pittsburgh. Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele), that trait is considered dominant. If expression of a trait requires 2 copies of a gene ...
