Hyperpolarization-activated, cyclic nucleotide–gated (HCN) channels contribute to cationicIhcurrent in neurons and regulate the excitability of neuronal networks. Studies in rat models have shown that theHcn1gene has a key role in epilepsy, but clinical evidence implicatingHCN1mutations in human epilep...
Table 1 examples of mutations in human genes Full size table Figure 1 Computation of the information loss score for variations in the protein-coding DNA. (a) Deletion of DNA base "A" at site 143 of the human protein PTEN causes a reading frame-shift (depicted by an arrow to the left o...
(1993a) Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA. Biol Chem Hoppe Seyler, 374, 1099-104. :Munscher C, Muller-Hocker J, Kadenbach B. Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA. Biol Chem Hoppe ...
Rossetti S, Englisch S, Bresin E, Pignatti PF, Turco AE 1997 Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA). Mol Cell Probes 11: 155–160 Article CAS PubMed Google Scholar Guldberg P, Guttler F 1993 A simple method for...
1Inactivation of both alleles of the p53 gene through deletion, insertion, or point mutation was shown in various types of human malignancies.2,3As for hematologic malignancies, several groups have observed alterations in the structure and expression of the p53 gene in blast crisis of chronic ...
Presenilin proteins are part of a complex of proteins that can cleave many type I transmembrane proteins, including Notch Receptors and the Amyloid Precursor Protein, in the middle of the transmembrane domain. Dominant mutations in the human presenilin genes PS1 and PS2 lead to Familial Alzheimer's...
Mutations in genes that encode RNA-binding proteins (RBPs) have emerged as critical determinants of neurological diseases, especially motor neuron disorders such as amyotrophic lateral sclerosis (ALS). RBPs are involved in all aspects of RNA processing, controlling the life cycle of RNAs from synthe...
Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics Genome Res, 5 (2000), pp. 703-713 CrossrefView in ScopusGoogle Scholar Lathrop et al., 1985 GM Lathrop, JM Lalouel, C Julier, J Ott Multilocus linkage analysis in humans: detection an...
英[mjuːˈteɪʃ(ə)n] n.变异;【生】突变;突变种;【语】母音变化 网络变异能力;基因突变;变异品种 复数:mutations 同义词 n. change,alteration,transformation,transmutation,metamorphosis 英汉 英英 网络释义 n. 1. 变化,变异,更换;【生】突变;突变种;【语】母音变化;【乐】(提琴的)变换把位;变声...
However, mutation can also disrupt normal gene activity and cause diseases, like cancer. Cancer is the most common human genetic disease; it is caused by mutations occurring in a number of growth-controlling genes. Sometimes faulty, cancer-causing genes can exist from birth, increasing a person’...