Leading cancer experts at the University of Birmingham have solved a long-standing question of how various types of mutations in just one gene cause different types of diseases. A team of scientists at the University's Institute of Cancer and Genomic Sciences, led by Professor Constanze Bonifer, ...
They found mutations in 83% of patients; the other 17% presumably have mutations not detectable by current techniques or in different genes. There were mutations in 10 different ichthyosis genes, mostly a gene called TGM1. To some extent different genotypes corresponded to different phenotypes. ...
Examinations was made to determine the genes responsible for these mutations. Both loci were found to share in common a different type of homeobox gene, which we call "BarH1." Polyptides encoded by D. melanogaster and D. ananassae BarH1 genes consist of 543 and 604 amino acids, ...
aMutations in the GJA8 gene have been demonstrated to be one of the most frequent reasons for isolated congenital cataracts. Different mutations have been detected in GJA8, and significant interfamilial phenotypic variability has been observed (Table 3). To date, at least 18 congenital cataract ...
The chromosome mutations and the number of sister chromatid exchanges induced by different kinds of immunosuppressive treatment were investigated in children and adults with certain types of renal diseases. The aim of the study was to find among the treatment schedules those promising good therapeutic ...
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. J Clin Endocrinol Metab 2010;95: 3491-6.Ericka B. Trarbach,Ana Paula Abreu,Leticia Ferreira Gontijo Silveira,Heraldo Mendes Garmes,Maria ... EB Trarbach,AP Abreu,LFG Silveira,... - 《Endocrinolog...
Over time, a particular gene will be copied and transmitted to offspring and may accumulate mutations in the process. Third, evolutionary biologists focus on history, mutation, variability, and gene duplication. Over time in different species, as mutation and natural selection have their effects, ...
Here we show that by introducing mutations on the human protein profilin 1, used here as a test case, the in-cell NMR signals can be recovered. In human cells both specific and non-specific interactions are present, while in bacterial cells only the effect of non-specific interactions is ...
In addition, comparison of gene sets specifically or preferentially expressed in stigmas of maize, rice (Oryza sativa L.), and Arabidopsis (Arabidopsis thaliana [L.] Heynh.) identified a number of homologous genes involved either in pollen adhesion, hydration, and germination or in initial growth...
Mutations and, consequently, cancerous cells’ incidents can occur in different human tissues and organs. Breast cancer is the most common malignancy in females; however, it can be successfully treated in ~ 70–80% of patients if diagnosed timely7. Breast cancer or mammary carcinoma is init...