Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients

Autor: Tatiana A. Shnaider, Anna A. Khabarova, Ksenia N. Morozova, Anastasia M. Yunusova, Sophia A. Yakovleva, Anastasia S. Chvileva, Ekaterina R. Wolf, Elena V. Kiseleva, Elena V. Grigor’eva, Viktori Y. Voinova, Maria A. Lagarkova, Ekaterina A. Pomerantseva, Elizaveta V. Musatova, Alexander V. Smirnov, Anna V. Smirnova, Diana S. Stoklitskaya, Tatiana I. Arefieva, Daria A. Larina, Tatiana V. Nikitina, Inna E. Pristyazhnyuk

Publikováno v: Cells, Vol 12, Iss 23, p 2702 (2023)

Cohen syndrome is an autosomal recessive disorder caused by VPS13B (COH1) gene mutations. This syndrome is significantly underdiagnosed and is characterized by intellectual disability, microcephaly, autistic symptoms, hypotension, myopia, retinal dys

Externí odkaz: https://doaj.org/article/46fae80a53d840f5ae947d70a2822115

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples

Autor: Yury A. Barbitoff, Darya N. Khmelkova, Ekaterina A. Pomerantseva, Aleksandr V. Slepchenkov, Nikita A. Zubashenko, Irina V. Mironova, Vladimir S. Kaimonov, Dmitrii E. Polev, Victoria V. Tsay, Andrey S. Glotov, Mikhail V. Aseev, Sergey G. Scherbak, Oleg S. Glotov, Arthur A. Isaev, Alexander V. Predeus

Population allele frequency is crucially important for accurate interpretation of known and novel variants in medical genetics. Recently, several large allele frequency databases, such as Genome Aggregation Database (gnomAD), have been created to ser

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fdedb76c49d01fc3054a9c8df11bfccc
https://doi.org/10.1101/2021.11.02.21265801

Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients.

Autor: Shnaider, Tatiana A.¹ (AUTHOR) shnayder@bionet.nsc.ru, Khabarova, Anna A.¹ (AUTHOR), Morozova, Ksenia N.^1,2 (AUTHOR), Yunusova, Anastasia M.¹ (AUTHOR), Yakovleva, Sophia A.² (AUTHOR), Chvileva, Anastasia S.² (AUTHOR), Wolf, Ekaterina R.² (AUTHOR), Kiseleva, Elena V.¹ (AUTHOR), Grigor'eva, Elena V.¹ (AUTHOR), Voinova, Viktori Y.^3,4 (AUTHOR), Lagarkova, Maria A.⁵ (AUTHOR), Pomerantseva, Ekaterina A.⁶ (AUTHOR), Musatova, Elizaveta V.⁶ (AUTHOR), Smirnov, Alexander V.¹ (AUTHOR), Smirnova, Anna V.³ (AUTHOR), Stoklitskaya, Diana S.⁶ (AUTHOR), Arefieva, Tatiana I.⁷ (AUTHOR), Larina, Daria A.³ (AUTHOR), Nikitina, Tatiana V.⁸ (AUTHOR), Pristyazhnyuk, Inna E.¹ (AUTHOR) iprist@bionet.nsc.ru

Publikováno v: Cells (2073-4409). Dec2023, Vol. 12 Issue 23, p2702. 24p.

Data from Siberian Branch of Russian Academy of Sciences Broaden Understanding of Cohen Syndrome (Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients).

Publikováno v: Stem Cell Week; 12/15/2023, p308-308, 1p