Search Results - "Voskresenskaya, Anna A."

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis by Marakhonov, Andrey V, Voskresenskaya, Anna A, Ballesta, Maria Jose, Konovalov, Fedor A, Vasilyeva, Tatyana A, Blanco-Kelly, Fiona, Pozdeyeva, Nadezhda A, Kadyshev, Vitaly V, López-González, Vanesa, Guillen, Encarna, Ayuso, Carmen, Zinchenko, Rena A, Corton, Marta

“…Abstract Background Mutations in CRYAA , which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes…”
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Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay by Filatova, Alexandra Yu, Vasilyeva, Tatiana A, Marakhonov, Andrey V, Voskresenskaya, Anna A, Zinchenko, Rena A, Skoblov, Mikhail Yu

“…Nucleotide variants that disrupt normal splicing might be the cause of a large number of diseases. Nevertheless, because of the complexity of splicing…”
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Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia by Filatova, Alexandra Y., Vasilyeva, Tatyana A., Marakhonov, Andrey V., Sukhanova, Natella V., Voskresenskaya, Anna A., Zinchenko, Rena A., Skoblov, Mikhail Y.

“…Congenital aniridia (AN) is a severe autosomal dominant panocular disorder associated with pathogenic variants in the PAX6 gene. Previously, we performed a…”
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LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome by Marakhonov, Andrey V, Vasilyeva, Tatyana A, Voskresenskaya, Anna A, Sukhanova, Natella V, Kadyshev, Vitaly V, Kutsev, Sergey I, Zinchenko, Rena A

“…Abstract WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms’ tumor (nephroblastoma), aniridia, genitourinary…”
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Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6 -Associated Congenital Aniridia across the Russian Federation: A Nationwide Study by Vasilyeva, Tatyana A, Marakhonov, Andrey V, Voskresenskaya, Anna A, Kadyshev, Vitaly V, Sukhanova, Natella V, Minzhenkova, Marina E, Shilova, Nadezhda V, Latyshova, Alla A, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A

“…This study investigates the distribution of -associated congenital aniridia (AN) and WAGR syndrome across Russian Federation (RF) districts while…”
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Mass spectrometric signatures of the blood plasma metabolome for disease diagnostics by LOKHOV, PETR G, BALASHOVA, ELENA E, VOSKRESENSKAYA, ANNA A, TRIFONOVA, OXANA P, MASLOV, DMITRY L, ARCHAKOV, ALEXANDER I

“…In metabolomics, a large number of small molecules can be detected in a single run. However, metabolomic data do not include the absolute concentrations of…”
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Preparation and characterization of amphiphilic poly-N-vinylpyrrolidone nanoparticles containing indomethacin by Kuskov, Andrey N., Voskresenskaya, Anna A., Goryachaya, Anastasiya V., Artyukhov, Alexander A., Shtilman, Mikhail I., Tsatsakis, Aristidis M.

“…Amphiphilic poly-N-vinylpyrrolidone derivatives (Amph-PVP) with different molecular weight of hydrophilic PVP fragment and one terminal hydrophobic n-alkyl…”
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Epidemiology of IPAX6/I Gene Pathogenic Variants and Expected Prevalence of IPAX6/I-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study by Vasilyeva, Tatyana A, Marakhonov, Andrey V, Voskresenskaya, Anna A, Kadyshev, Vitaly V, Sukhanova, Natella V, Minzhenkova, Marina E, Shilova, Nadezhda V, Latyshova, Alla A, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A

“…This study investigates the distribution of PAX6-associated congenital aniridia (AN) and WAGR syndrome across Russian Federation (RF) districts while…”
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Prediction of classical clinical chemistry parameters using a direct infusion mass spectrometry by Lokhov, Petr G., Voskresenskaya, Anna A., Trifonova, Oxana P., Maslov, Dmitry L., Shestakova, Ekaterina A., Balashova, Elena E., Lisitsa, Andrey V.

“…•The capacity of blood plasma metabolome to be used for diagnostics was investigated.•Various diagnostic substances of blood were estimated from plasma…”
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Preparation and characterization of amphiphilic poly-N-vinylpyrrolidone nanoparticles containing indomethacin by KUSKOV, Andrey N, VOSKRESENSKAYA, Anna A, GORYACHAYA, Anastasiya V, ARTYUKHOV, Alexander A, SHTILMAN, Mikhail I, TSATSAKIS, Aristidis M

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