Activation of Mitochondrial 2-Oxoglutarate Dehydrogenase by Cocarboxylase in Human Lung Adenocarcinoma Cells A549 Is p53/p21-Dependent and Impairs Cellular Redox State, Mimicking t... von Bunik, Victoria, Aleshin, Vasily A., Zhou, Xiaoshan, Tabakov, Vyacheslav Yu, Karlsson, Anna

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Airway and Lung Organoids from Human-Induced Pluripotent Stem Cells Can Be Used to Assess CFTR Conductance von Demchenko, Anna, Kondrateva, Ekaterina, Tabakov, Vyacheslav, Efremova, Anna, Salikhova, Diana, Bukharova, Tatiana, Goldshtein, Dmitry, Balyasin, Maxim, Bulatenko, Natalia, Amelina, Elena, Lavrov, Alexander, Smirnikhina, Svetlana

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Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C von Bychkov, Igor, Filatova, Alexandra, Perelman, Grigory, Proshlyakova, Tatiana, Korotkova, Daria, Klyushnikov, Sergey, Karpova, Maria, Tabakov, Vyacheslav, Baydakova, Galina, Ilyushkina, Alexandra, Skoblov, Mikhail, Zakharova, Ekaterina

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Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI von Kondrateva, Ekaterina, Grigorieva, Olga, Panchuk, Irina, Bychkov, Igor, Zakharova, Ekaterina, Tabakov, Vyacheslav, Pozhitnova, Victoria, Voronina, Ekaterina, Shchagina, Olga, Lavrov, Alexander, Smirnikhina, Svetlana, Kutsev, Sergey

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Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva von Kondrateva, Ekaterina, Grigorieva, Olga, Kurshakova, Elizaveta, Panchuk, Irina, Pozhitnova, Victoria, Voronina, Ekaterina, Tabakov, Vyacheslav, Orlova, Maria, Lavrov, Alexander, Smirnikhina, Svetlana, Kutsev, Sergey

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Generation of two induced pluripotent stem cell lines (RCMGi004-A and -B) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/W1282X mutatio... von Kondrateva, Ekaterina, Demchenko, Anna, Slesarenko, Yana, Pozhitnova, Victoria, Yasinovsky, Matvey, Amelina, Elena, Tabakov, Vyacheslav, Voronina, Ekaterina, Lavrov, Alexander, Smirnikhina, Svetlana

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Generation of induced pluripotent stem cell line (RCMGi001-A) from human skin fibroblasts of a cystic fibrosis patient with p.F508del mutation von Kondrateva, Ekaterina, Adilgereeva, Elmira, Amelina, Elena, Tabakov, Vyacheslav, Demchenko, Anna, Ustinov, Kirill, Yasinovsky, Matvey, Voronina, Ekaterina, Lavrov, Alexander, Smirnikhina, Svetlana

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Generation of two induced pluripotent stem cell lines (RCMGi005-A/B) from human skin fibroblasts of a cystic fibrosis patient with homozygous F508del mutation in CFTR gene von Panchuk, Irina, Kondrateva, Ekaterina, Demchenko, Anna, Grigorieva, Olga, Erofeeva, Anastasija, Amelina, Elena, Tabakov, Vyacheslav, Orlova, Maria, Voronina, Ekaterina, Pozhitnova, Victoria, Lavrov, Alexander, Smirnikhina, Svetlana, Kutsev, Sergey

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Generation of induced pluripotent stem cell line (RCMGi008-A) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/CFTRdele2.3 mutations in C... von Kondrateva, Ekaterina, Panchuk, Irina, Demchenko, Anna, Grigorieva, Olga, Zheglo, Diana, Voronina, Ekaterina, Erofeeva, Anastasija, Tabakov, Vyacheslav, Orlova, Maria, Lavrov, Alexander, Smirnikhina, Svetlana, Kutsev, Sergey

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Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape von Bychkov, Igor, Kuznetsova, Antonina, Baydakova, Galina, Gorobets, Leonid, Kenis, Vladimir, Dimitrieva, Alena, Filatova, Alexandra, Tabakov, Vyacheslav, Skoblov, Mikhail, Zakharova, Ekaterina

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The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation von Kovalskaia, Valeriia A, Kungurtseva, Anastasiia L, Bostanova, Fatima M, Vasiliev, Peter A, Tabakov, Vyacheslav Y, Orlova, Mariia D, Povolotskaya, Inna S, Novoselova, Olga G, Bikanov, Roman A, Akhyamova, Mariia A, Tikhonovich, Yulia V, Popovich, Anastasiia V, Vitebskaya, Alisa V, Dadali, Elena L, Ryzhkova, Oxana P

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Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape von Bychkov, Igor, Kuznetsova, Antonina, Baydakova, Galina, Gorobets, Leonid, Kenis, Vladimir, Dimitrieva, Alena, Filatova, Alexandra, Tabakov, Vyacheslav, Skoblov, Mikhail, Zakharova, Ekaterina

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CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report von Papizh, Svetlana, Serzhanova, Victoria, Filatova, Alexandra, Skoblov, Mikhail, Tabakov, Vyacheslav, van den Heuvel, Lambert, Levtchenko, Elena, Prikhodina, Larisa

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Airway basal cells from human-induced pluripotent stem cells: a new frontier in cystic fibrosis research von Demchenko, Anna, Belova, Lyubava, Balyasin, Maxim, Kochergin-Nikitsky, Konstantin, Kondrateva, Ekaterina, Voronina, Ekaterina, Pozhitnova, Victoria, Tabakov, Vyacheslav, Salikhova, Diana, Bukharova, Tatiana, Goldshtein, Dmitry, Kondratyeva, Elena, Kyian, Tatiana, Amelina, Elena, Zubkova, Olga, Popova, Olga, Ozharovskaia, Tatiana, Lavrov, Alexander, Smirnikhina, Svetlana

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Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants von Tsygankova, Polina, Bychkov, Igor, Minzhenkova, Marina, Pechatnikova, Natalia, Bessonova, Lyudmila, Buyanova, Galina, Naumchik, Irina, Beskorovainiy, Nikita, Tabakov, Vyacheslav, Itkis, Yulia, Shilova, Nadezhda, Zakharova, Ekaterina

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P.F508del editing in cells from cystic fibrosis patients von Smirnikhina, Svetlana A., Kondrateva, Ekaterina V., Adilgereeva, Elmira P., Anuchina, Arina A., Zaynitdinova, Milyausha I., Slesarenko, Yana S., Ershova, Angelina S., Ustinov, Kirill D., Yasinovsky, Matvei I., Amelina, Elena L., Voronina, Ekaterina S., Yakushina, Valentina D., Tabakov, Vyacheslav Yu, Lavrov, Alexander V.

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Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia von Kovalskaia, Valeriia A, Zabnenkova, Victoriia V, Petukhova, Marina S, Markova, Zhanna G, Tabakov, Vyacheslav Yu, Ryzhkova, Oxana P

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Dibenzoindigo: A Nature‐Inspired Biocompatible Semiconductor Material for Sustainable Organic Electronics von Leshanskaya, Lidiya I., Klimovich, Irina V., Dashitsyrenova, Dolgor D., Frolova, Lyubov A., Ershova, Elizaveta S., Sergeeva, Vasilina A., Tabakov, Vyacheslav Yu, Kostyuk, Svetlana V., Lyssenko, Konstantin A., Troshin, Pavel A.

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A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH) von Tsygankova, Polina, Chistol, Denis, Krylova, Tatiana, Bychkov, Igor, Tabakov, Vyacheslav, Markova, Tatiana, Dadali, Elena, Zakharova, Ekaterina

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Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome von Sparber, Peter, Filatova, Alexandra, Anisimova, Inga, Markova, Tatiana, Voinova, Viktoria, Chuhrova, Alena, Tabakov, Vyacheslav, Skoblov, Mikhail

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