A5029853533- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Galectins and Cancer Biology
- Congenital heart defects research
- RNA modifications and cancer
- Protein Tyrosine Phosphatases
- Signaling Pathways in Disease
Center for Children
2021-2023
Scientific Center of Children's Health
2023
The few foreign papers of the last decade have shown relationship various pathogenic variants ELAC2 gene to heterogeneous phenotypic manifestations, for which unfavorable prognosis is common, caused by severe cardiomyopathy in first year life. article presents clinical observation a rare variant hypertrophic phenotype with fatal outcome life, and c.887T>C, p.L296P c.1979A>T, p.K660I Russia. purpose work present child an early manifestation gene.
Introduction. Noonan syndrome is a clinically and genetically heterogeneous disease with multiple organ involvement associated mutations in the genes of RAS/MAPK signalling pathway. Most patients syndrom (up to 50–80%) have disorders cardiovascular system, presented by wide range congenital heart defects and/or cardiomyopathy, predominantly hypertrophic phenotype. Thanks introduction high-throughput sequencing, knowledge genetic causes has expanded significantly, so since 2014, LZTR1 gene...
Danon disease is a rare hereditary with predominant damage to the heart and skeletal muscles. referred lysosomal storage disorders severe, progressive course it often leads an early mortality. The main cause of mutations in LAMP2 gene Xq24–q25 chromosome region. has X-linked dominant nature inheritance; women have milder phenotype older damage. For first time was described boys cardiomyopathy, severe myopathy intellectual deficiency. article presents up-to-date review on case reports...