Search Results - "Savost'yanov, Kirill V"

Neuroprotective and anti-inflammatory properties of proteins secreted by glial progenitor cells derived from human iPSCs by Salikhova, Diana I, Shedenkova, Margarita O, Sudina, Anastasya K, Belousova, Ekaterina V, Krasilnikova, Irina A, Nekrasova, Anastasya A, Nefedova, Zlata A, Frolov, Daniil A, Fatkhudinov, Timur Kh, Makarov, Andrey V, Surin, Alexander M, Savostyanov, Kirill V, Goldshtein, Dmitry V, Bakaeva, Zanda V

“…Currently, stem cells technology is an effective tool in regenerative medicine. Cell therapy is based on the use of stem/progenitor cells to repair or replace…”
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Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population by Glotov, Oleg S, Savostyanov, Kirill V, Nagornova, Tatyana S, Chernov, Alexandr N, Fedyakov, Mikhail A, Raspopova, Aleksandra N, Krasnoukhov, Konstantin N, Danilov, Lavrentii G, Moiseeva, Nadegda V, Kalinin, Roman S, Tsai, Victoria V, Eismont, Yuri A, Voinova, Victoria Y, Vitebskaya, Alisa V, Gurkina, Elena Y, Kuzenkova, Ludmila M, Sosnina, Irina B, Pushkov, Alexander A, Zhanin, Ilya S, Zakharova, Ekaterina Y

“…(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in the ALPL gene which encodes tissue-nonspecific alkaline…”
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Signatures of Dermal Fibroblasts from RDEB Pediatric Patients by Beilin, Arkadii K, Evtushenko, Nadezhda A, Lukyanov, Daniil K, Murashkin, Nikolay N, Ambarchian, Eduard T, Pushkov, Alexander A, Savostyanov, Kirill V, Fisenko, Andrey P, Rogovaya, Olga S, Vasiliev, Andrey V, Vorotelyak, Ekaterina A, Gurskaya, Nadya G

“…The recessive form of dystrophic epidermolysis bullosa (RDEB) is a debilitating disease caused by impairments in the junctions of the dermis and the basement…”
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Brief Guidelines on Preparation of Manuscripts Containing Information on the Results of Molecular Genetic Research by Pushkov, Alexander A., Savostyanov, Kirill V., Nikitin, Alexey G.

“…Guidelines are given on terminology, nomenclature and determination of the clinical significance of various variants of the genome nucleotide sequence…”
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Comorbid Cardiovascular Malformation and Type II Mucolipidosis: Clinical Case by Fedorova, Nina V., Zhurkova, Natalia V., Vashakmadze, Nato D., Babaykina, Marina A., Revunenkov, Grigory V., Savostyanov, Kirill V., Gordeeva, Olga B., Namazova-Baranova, Leyla S.

“…Background. Type II mucolipidosis (I-cell disease, ICD) is one of the lysosomal storage diseases. It is very rare disease; the literature describes only few…”
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Clinic Case of Rare Type VI Osteogenesis Imperfecta by Ignatovich, Olga N., Namazova-Baranova, Leyla S., Margieva, Tea V., Zhurkova, Natalia V., Savostyanov, Kirill V., Pushkov, Alexander V.

“…Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time…”
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Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case by Kriulin, Ivan A., Alexeeva, E. I., Dvoryakovskaya, Tatyana M., Bursagova, Bella I., Savostyanov, Kirill V., Zhurkova, Natalya V., Pushkov, Alexander A., Anikin, Anatoli V., Nesterov, Artem M.

“…Background. Cryopyrin-associated periodic syndromes is a group of rare congenital autoinflammatory diseases such as familial cold autoinflammatory syndrome,…”
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GENOTYPE-PHENOTYPE CORRELATIONS OF THE COURSE OF CYSTIC FIBROSIS IN RUSSIAN CHILDREN. THE FIRST DESCRIPTION OF ELEVEN NEW MUTATIONS by Gorinova, Yulia V., Savostyanov, Kirill V., Pushkov, Alexandr A., Nikitin, Alexey G., Pen’kov, Evgeniy L., Krasovskiy, Stanislav A., Simonova, Olga I., Namazova-Baranova, L. S.

“…Background. Cystic fibrosis is a hereditary disease that occurs as a result of mutations in the regulator gene of chloride ion transmembrane transport (CFTR)…”
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THE URGENCY OF GENETIC VERIFICATION OF NON-COMPACTION CARDIOMYOPATHY IN CHILDREN: CLINICAL CASES by Sdvigova, Nataliya A., Basargina, Elena N., Ryabtsev, Dmitry V., Savostyanov, Kirill V., Pushkov, Alexander A., Zhurkova, Natalia V., Revunenkov, Grigory V., Zharova, Olga P.

“…Background. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations…”
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22q11.2 DELETION SYNDROME: ALGORITHM FOR THE EARLY DIAGNOSIS AND TREATMENT by Namazova-Baranova, Leyla S., Ginter, Olga V., Polunina, Tatyana A., Davydova, Irina V., Savostyanov, Kirill V., Pushkov, Alexandr A., Jourkova, Natalya V., Mospan, Tatyana Y.

“…Chromosomal diseases, in particular microdeletions, determine the child's condition as well as the prognosis for a disease even at birth. With timely…”
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AUTOSOMAL RECESSIVE PERIPHERAL NEUROPATHY WITH NEUROMYOTONIA (ARAN-NM): DESCRIPTION OF A CLINICAL CASE CONFIRMED BY A MUTATION IN THE HINT1 GENE by Klochkova, Olga A., Kurenkov, Alexey L., Zhurkova, Natalya V., Savostyanov, Kirill V., Zhanin, Ilya S., Mamedyarov, Ayaz M., Tardova, Ilona M.

“…Autosomal recessive  peripheral neuropathy with neuromyotonia  (ARAN-NM)  is a relatively newly described  disease associated  with mutations  in the HINT1…”
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Homocystinuria in Children by Baranov, Alexander A., Namazova-Baranova, Leyla S., Borovik, Tatyana E., Bushueva, Tatyana V., Globa, Oksana V., Zhurkova, Natalya V., Vishneva, Elena A., Zakharova, Ekaterina Yu, Zvonkova, Natalya G., Kuzenkova, Ljudmila M., Kutsev, Sergey I., Mikhaylova, Svetlana V., Nikolaeva, Ekaterina A., Novikov, Petr V., Pushkov, Alexandr A., Savostyanov, Kirill V., Voskoboeva, Elena Yu, Selimzianova, Liliia R., Semyachkina, Alla N.

“…Homocystinuria is a genetically heterogeneous hereditary disease from the group of aminoacidopathies caused by a metabolic disorder of  sulphur-containing…”
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Success of Immunopathogenetic Therapy for Management of Congenital Ichthyosis, Combined Form, in a Child: Rare Clinical Case by Avetisyan, Karine O., Murashkin, Nikolay N., Pavlova, Ekaterina S., Ivanov, Roman A., Petrichuk, Svetlana V., Kuptsova, Daria G., Demyanov, Dmitrii S., Savostyanov, Kirill V.

“…Background . Congenital ichthyosis (CI) is relating to the group of clinical and genetically heterogeneous severe genodermatoses. SAM syndrome is included in…”
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P234Demographic, clinical and genetic characteristics of children with gaucher disease: the data of paediatric registry in russia by Movsisyan, Goar B, Gundobina, Olga S, Namazova-Baranova, Leyla S, Savostyanov, Kirill V, Pushkov, Alexander A, Chernikov, Vladislav V, Mazanova, Natalya N, Romanyuk, Alena M, Smirnov, Vladimir I

“…BackgroundRegisters are an effective tool for tracing the dynamics of patients with rare pathologies.ObjectiveOur aim was to examine the demographic, clinical…”
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P234 Demographic, clinical and genetic characteristics of children with gaucher disease: the data of paediatric registry in russia by Movsisyan, Goar B, Gundobina, Olga S, Namazova-Baranova, Leyla S, Savostyanov, Kirill V, Pushkov, Alexander A, Chernikov, Vladislav V, Mazanova, Natalya N, Romanyuk, Alena M, Smirnov, Vladimir I

“…BackgroundRegisters are an effective tool for tracing the dynamics of patients with rare pathologies.ObjectiveOur aim was to examine the demographic, clinical…”
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Genes of antioxidant defence and diadetes mellitus by Dedov, Ivan I, Chistyakov, Dmitry A, Savost'yanov, Kirill V, Turakulov, Rustam I, Kuraeva, Tamara L, Nosikov, Valery V

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22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment by Namazova-Baranova, L. S., Ginter, O. V., Polunina, T. A., Davydova, I. V., Savostyanov, K. V., Pushkov, A. A., Jourkova, N. V., Mospan, T. Y.

“…The article analyzes the consequences of chromosomal abnormalities caused by the deletion of a small piece of chromosome 22. This syndrome results in diverse…”
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EXPERIENCE OF THE SUCCESSFUL CANAKINUMAB TREATMENT OF A PATIENT WITH UNDIFFERENTIATED AUTOINFLAMMATORY SYNDROME by Sleptsova, T. V., Alexeeva, E. I., Bzarova, Т. М., Savostyanov, K. V., Pushkov, A. A., Isaeva, K. B., Denisova, R. V., Lomakina, О. L.

“…The article presents a case of a successful canakinumab application (preparation of monoclonal antibodies to 1 interleukin) for undifferentiated…”
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