Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mikhail Sukchev"'
Autor:
Aleksandr Gordeev, Andrei Vaal, Maria Puchkova, Iana Smirnova, Aleksandr Doronin, Anna Znobishcheva, Daria Zhmudanova, Aleksei Aleksandrov, Mikhail Sukchev, Evgeny Imyanitov, Valery Solovyev, Pavel Iakovlev
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Prolgolimab is a recombinant IgG1-based anti-PD-1 antibody, whose properties were improved by the introduction of the LALA mutation, and which has demonstrated high efficacy in patients with metastatic melanoma. This paper presents the resul
Externí odkaz:
https://doaj.org/article/e963b1e7cfa14bf6b87671b00ac36cf7
Autor:
Aleksandr Gordeev, Andrei Vaal, Maria Puchkova, Iana Smirnova, Aleksandr Doronin, Anna Znobishcheva, Daria Zhmudanova, Aleksei Aleksandrov, Mikhail Sukchev, Evgeny Imyanitov, Valery Solovyev, Pavel Iakovlev
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/29ec55ef2bb848ab8e943051d4d1fd20
Autor:
Mikhail Sukchev, Leyre Riancho-Zarrabeitia, I. Dapia, Ignacio Álvarez, Gabriel Á. Martos-Moreno, Ghada A. Otaify, Mayte García-Unzueta, Samia A. Temtamy, Jesús Argente, Jair Tenorio, Pedro Arias, Victor L. Ruiz-Perez, Alessandro Rubinacci, José A. Riancho, Ruben Gomez, Pablo Lapunzina, Mostafa Sherif, Karen E. Heath, Julián Martínez-Villanueva, Jose Manuel Iturzaeta, Monserrat de la Flor Crespo, Mona Aglan, Mohamed Abdel Hamid, María T. Darnaude-Ortiz, Giorgia Mandrile, Gema Gordo, Iza Kramer
Publikováno v:
American Journal of Medical Genetics Part A. 173:601-610
Hypophosphatasia (HPP) is a rare autosomal dominant or recessive metabolic disorder caused by mutations in the tissue nonspecific alkaline phosphatase gene (ALPL). To date, over 300 different mutations in ALPL have been identified. Disease severity i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec268066ac0ef99c5144cf96d8e83f75
https://doi.org/10.1002/ajmg.a.37991
https://doi.org/10.1002/ajmg.a.37991
Autor:
Christopher Bruhn, Zhao-Qi Wang, Ralph Gruber, Alicia Tapias, Zhong-Wei Zhou, Mikhail Sukchev
Publikováno v:
DNA Repair. 12:645-655
MCPH1 encodes BRCT-containing protein MCPH1/Microcephalin/BRIT1, mutations of which in humans cause autosomal recessive disorder primary microcephaly type 1 (MCPH1), characterized by a congenital reduction of brain size particularly in the cerebral c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c28f4f803ef41d3b23fa2dbd6dfc7f8
https://doi.org/10.1016/j.dnarep.2013.04.017
https://doi.org/10.1016/j.dnarep.2013.04.017
Autor:
Zhao-Qi Wang, Ralph Gruber, Zhong-Wei Zhou, Tjard Joerss, Mikhail Sukchev, Pierre Olivier Frappart
Publikováno v:
Nature cell biology. 13(11)
Primary microcephaly 1 is a neurodevelopmental disorder caused by mutations in the MCPH1 gene, whose product MCPH1 (also known as microcephalin and BRIT1) regulates DNA-damage response. Here we show that Mcph1 disruption in mice results in primary mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1213428373c473f18bbaede81638087c
https://pubmed.ncbi.nlm.nih.gov/21947081
https://pubmed.ncbi.nlm.nih.gov/21947081