Arina Аnuchina

Arina Аnuchina
Moscow Institute of Physics and Technology | MIPT · Laboratory for Structural Analysis and Engineering of Membrane Systems

PhD

About

30
Publications
3,756
Reads
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92
Citations
Additional affiliations
January 2019 - December 2022
Research Centre for Medical Genetics (RCMG)
Position
  • Research Associate
June 2017 - December 2018
Research Centre for Medical Genetics (RCMG)
Position
  • Research Associate
Education
September 2015 - June 2017
September 2012 - June 2015

Publications

Publications (30)
Article
The development of gene therapy using genome editing tools recently became relevant. With the invention of programmable nucleases, it became possible to treat hereditary diseases due to introducing targeted double strand break in the genome followed by homology directed repair (HDR) or non-homologous end-joining (NHEJ) reparation. CRISPR-Cas9 is mo...
Article
Full-text available
Recent advances in machine learning techniques have led to development of a number of protein design and engineering approaches. One of them, ProteinMPNN, predicts an amino acid sequence that would fold and match user‐defined backbone structure. Its performance was previously tested for proteins composed of standard amino acids, as well as for pept...
Article
Full-text available
This study aimed to enhance homology-directed repair (HDR) efficiency in CRISPR/Cas-mediated genome editing by targeting three key factors regulating the balance between HDR and non-homologous end joining (NHEJ): MAD2L2, SCAI, and Ligase IV. In order to achieve this, a cellular model using mutated eGFP was designed to monitor HDR events. Results sh...
Article
Gene editing allows to make a variety of targeted changes in genome, which can potentially be used to treat hereditary human diseases. Despite numerous studies in this area, effectiveness of gene editing methods for correcting mutations is still low, so these methods are not allowed in routine practice. It has been shown that rational design of gen...
Article
Full-text available
Development of genome editing methods created new opportunities for the development of etiology-based therapies of hereditary diseases. Here, we demonstrate that CRISPR/Cas9 can correct p.F508del mutation in the CFTR gene in the CFTE29o- cells and induced pluripotent stem cells (iPSCs) derived from patients with cystic fibrosis (CF). We used severa...
Article
Перспективным в изучении биомаркеров мигрени может быть многолокусный анализ, в частности, анализ частот сочетанных генотипов. Цель исследования - поиск составных генетических биомаркеров индивидуальной предрасположенности к мигрени, полученных на основе полиморфизмов генов, уже показавших статистическую значимость при однолокусном ассоциативном ан...
Article
Full-text available
The majority of CRISPR-Cas9 methods for mutations correction are oriented on gene editing through homologous recombination that is normally restrained by non-homologous end joining (NHEJ). A recently identified protein TIRR can bind a 53BP1 protein, a key effector of NHEJ, and inhibit its recruitment to double-strand break loci. Several studies elu...
Article
Full-text available
Despite the recent discover of genome-editing methods, today we can say these approaches have firmly entered our life. Two approaches—knocking out malfunctioning gene allele or correcting the mutation with precise knock-in—can be used in hereditary monogenic diseases treatment. The latter approach is relatively ineffective. Modern data about the wa...
Article
Full-text available
The chromosomal theory of heredity is the greatest achievement of natural sciences of the first half of the twentieth century. In this paper, which is dedicated to the anniversary of this discovery, we present the development of the theory from T. Morgan’s time to the present day, which marked the beginning of a new trend in genetics – cytogenetics...
Article
Full-text available
Cystic fibrosis is a severe autosomal recessive disease caused by mutations in the CFTR gene. The most common CFTR mutation occurring in the European population is F508del. Advances in the management of patients with cystic fibrosis aimed at blocking disease progression have considerably improved the prognosis, but gene therapy has turned to be les...
Article
Nowadays migraine ranks 9th in the list of leading causes of disability among population. In Russia migraine prevalence is two times higher than the world index and inflicts a considerable damage on the state economy. Despite almost one-century history of studying migraine, science until now cannot explain many cases of attack occurrence. It causes...
Article
В результате первого полногеномного ассоциативного исследования (GWAS) обычной мигрени обнаружена замена в регуляторной области гена MTDH (rs1835740, XR_928434.1:n.1748+4013T>C). Однако подтвердить данные GWAS на независимых выборках не удалось. Так же нет однозначного ответа о роли данной замены в формировании клинической картины различных форм ми...
Article
Background Migraine is a multifactorial socially significant disease affecting the peripheral and central nervous system. The diagnosis of “migraine” is still the only clinical, and additional methods of inspection are only required to avoid secondary headaches if certain “signs of danger”. Accordingly, the search for biomarkers of migraine, confir...
Conference Paper
Исследованы полиморфные варианты гена PDE4B (rs10454453, rs502958, rs1040716) у пациентов с диагнозом паническое расстройство и частыми паническими атаками (n=102) и в котрольной популяционной выборке (n=192). Исследованные замены имеют исключительно протективный эффект в отношении панического расстройства. Это можно объяснить тем, что предрасполож...
Article
В настоящее время мигрень занимает 9 место в списке ведущих причин нетрудоспособности населения. В России распространённость мигрени почти в два раза превышает мировые показатели и наносит немалый ущерб экономике государства. Несмотря на почти вековую историю изучения мигрени, наука до сих пор не может объяснить многие случаи возникновения приступо...
Conference Paper
Abstract Genomics technologies have increased the quantities of data of aging and aging related disease. The ability to visual manipulate enormous biological data with help of interactive maps or pathways helps researchers to understand the complex conditions like disease onset and progression, and can help developing useful diagnostics and effecti...

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