Filtry
Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor
a 21 amino acid long signal sequence, which directs the protein into the endoplasmic reticulum. Mutations in the LDLR gene lead to cholesterol accumulation is still missing. In this study, we focused on the LDLR signal...
FB - Endokrinologie, diabetologie, metabolismus, výživa
- 2016 •
- Jx •
- Odkaz
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
Correlated Mutation Analysis Improvement by Proteomic Signal Processing
Correlated mutation analysis has become a powerful tool in protein contact prediction based on multiple sequence alignments of homologous proteins. Here, we introduce a novel method for the computation of correlated mutations
EB - Genetika a molekulární biologie
- 2016 •
- D •
- Odkaz
Rok uplatnění
D - Stať ve sborníku
Výsledek na webu
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
The article describes dominant renin gene mutations as a cause of Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure.
EB - Genetika a molekulární biologie
- 2009 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
The Relationship between PAX9 Gene Mutations and Tooth Agenesis in Czech Population
are mediated by more than 300 signaling molecules including Pax9, Msx1 and Axin2. Tooth. It interacts with Msx1 and mutations in PAX9 and MSX1 genes were associated withseveral type of tooth agenesis. The aim of this work was to st...
ED - Fyziologie
- 2012 •
- O
Rok uplatnění
O - Ostatní výsledky
Treatment-driven clonal evolution of CLL: analysis by whole exome sequencing
carrying mutations in the TP53 gene and to the development of refractory disease. However, in some patients, small clones carrying TP53 mutations are observed, which do of somatic mutations and to identify molecular geneti...
Oncology
- 2021 •
- O •
- Odkaz
Rok uplatnění
O - Ostatní výsledky
Výsledek na webu
Examination of oncogene mutations and polymorphisms by DNA sequencing
DNA sequencing allows reading of a particular stretch of DNA. By comparing the obtained sequences with well-known sequence of the DNA molecule, we find single nucleotide substitution (point mutation) in the chain, ...
FD - Onkologie a hematologie
- 2009 •
- NmetC
Rok uplatnění
NmetC - Metodiky certifikované oprávněným orgánem
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome
sequencing in a cohort of patients and identified homozygosity for a missense mutation, p.E80K, in Intestinal Cell Kinase, ICK, in one SRPS family. The p.E80K mutation. Mutations in several genes affecting cilia f...
CE - Biochemie
- 2016 •
- Jx •
- Odkaz
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
Relevance of p53 protein and its mutations for novel strategies in cancer therapy
Mutational inactivation of the p53 gene products is one of the most common binding as many as 300 different promoter sequences in the genome. As a transcription variety of stress signals. This stress regulated transactivati...
FD - Onkologie a hematologie
- 2004 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
TransPEM
TransPEM (Software for Translation sequence into peptide based on mutation information) is a novel bioinformatics tool which was developed for providing mutated and wild type sequences based on bioinformatics analy...
Computer sciences, information science, bioinformathics (hardware development to be 2.2, social aspect to be 5.8)
- 2018 •
- R •
- Odkaz
Rok uplatnění
R - Software
Výsledek na webu
Software pro grafickou reprezentaci poziční konzervace a stupně variance v biologických sekvencích
Tool for graphical representation of positional conservation and degree of variance in biological sequences. Types of graphical representation: Logo Bar, Sequence consensus, Positional expression ambiguous mutations, Positi...
EB - Genetika a molekulární biologie
- 2011 •
- R •
- Odkaz
Rok uplatnění
R - Software
Výsledek na webu
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