Zobrazeno 1 - 10
of 4 647
pro vyhledávání: '"missense mutations"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Integrin αIIbβ3 is the predominant receptor for fibrinogen which mediates platelet aggregation, an important step in hemostasis and thrombosis. Several mutations have been reported in the genes encoding αIIb and β3 subunits among patient
Externí odkaz:
https://doaj.org/article/1c8366f51ae14188832fc7cf752632de
Autor:
Sadhna Rao, Anastasiia Sadybekov, David C. DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E. Herring
Publikováno v:
Molecular Autism, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Background Glutamatergic synapse dysfunction is believed to underlie the development of Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) in many individuals. However, identification of genetic markers that contribute to synapt
Externí odkaz:
https://doaj.org/article/e04f25582550489b9b9369030d6873fe
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/f1839c52564b4545b4c39bc282eef3e1
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
Human plasminogen (PLG), the zymogen of the fibrinolytic protease, plasmin, is a polymorphic protein with two widely distributed codominant alleles, PLG/Asp453 and PLG/Asn453. About 15 other missense or non-synonymous single nucleotide polymorphisms
Externí odkaz:
https://doaj.org/article/07cce74d2c0f4e3ead298489121629fe
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/7d9167ebf42f4eb493a4889e34ee602c
Publikováno v:
Clinical, Cosmetic and Investigational Dermatology, Vol Volume 16, Pp 1325-1329 (2023)
Qin Mei,1 Fengling Xing,2 Yue Yin,2 Chengda Yuan2 1Department of Dermatology, Dermatology Hospital of Fuzhou, Fuzhou, Fujian, People’s Republic of China; 2Department of Dermatology, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical Unive
Externí odkaz:
https://doaj.org/article/7867c4256caf48f482395509918cd949
Autor:
Giulio Poli, Gian Carlo Demontis, Andrea Sodi, Alessandro Saba, Stanislao Rizzo, Marco Macchia, Tiziano Tuccinardi
Publikováno v:
Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 38, Iss 1 (2023)
hRPE65 is a fundamental enzyme of the retinoid visual cycle, and many missense mutations affecting its expression or function are associated with a wide range of diseases. Many hRPE65 missense mutations lack a clear pathogenicity classification or ar
Externí odkaz:
https://doaj.org/article/7c89f3b7f8fb4854b84bd0e0b60daf9f
Publikováno v:
Frontiers in Microbiology, Vol 14 (2023)
IntroductionAdaptive laboratory evolution (ALE) studies play a crucial role in understanding the adaptation and evolution of different bacterial species. In this study, we have investigated the adaptation and evolution of Salmonella enterica serovar
Externí odkaz:
https://doaj.org/article/c1e8b6be62d2468185610c3ea367f872
Elucidating the Role of Wildtype and Variant FGFR2 Structural Dynamics in (Dys)Function and Disorder
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 8, p 4523 (2024)
The fibroblast growth factor receptor 2 (FGFR2) gene is one of the most extensively studied genes with many known mutations implicated in several human disorders, including oncogenic ones. Most FGFR2 disease-associated gene mutations are missense mut
Externí odkaz:
https://doaj.org/article/a214a8947fc24e059b0f1bb92526d0b5
Autor:
Marina Botnari, Luba Tchertanov
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 4, p 2043 (2024)
The human Vitamin K Epoxide Reductase Complex (hVKORC1), a key enzyme transforming vitamin K into the form necessary for blood clotting, requires for its activation the reducing equivalents delivered by its redox partner through thiol-disulfide excha
Externí odkaz:
https://doaj.org/article/ee675d59171c4707afbd0af1b508b580