Results 311 to 320 of about 159,772 (339)

Clinical polymorphism of splice site mutations in the ABCA4 gene

Vestnik oftal'mologii, 2018
ABCA4 is one of the main genes whose mutations are associated with various inherited retinal diseases (IRD) such as Stargardt disease, cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa. The severity of retinal dystrophy phenotype may be related to the degree of mutation pathogenicity, which depends on the localization in various regulatory ...
N L, Sheremet, I G, Grushke, N V, Zhorzholadze, I A, Ronzina, A A, Mikaelyan, A S, Tanas, V V, Strelnikov   +6 more
openaire   +2 more sources

Detection of somatic TP53 splice site mutations in diffuse astrocytomas

Cancer Letters, 2005
Alteration in TP53 is the most common genetic event reported for many tumors, including astrocytomas. The majority of studies, on analyzing TP53 mutations, have not included all splice junctions. Consequently, splice site mutations are thought to be relatively infrequent.
Miyuki, Uno, Sueli Mieko, Oba-Shinjo, Paulo Henrique, de Aguiar, Claudia C, Leite, Sérgio, Rosemberg, Flávio K, Miura, Raul Marino, Junior, Milberto, Scaff, Suely Kazue, Nagahashi Marie   +8 more
openaire   +2 more sources

Retinitis Pigmentosa Mutations ofSNRNP200Enhance Cryptic Splice-Site Recognition

Human Mutation, 2013
Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is BRR2, a DExD/H box RNA helicase crucial for pre-mRNA splicing. In this study, we prepared p.S1087L and p.R1090L mutations of human BRR2 using bacterial artificial chromosome recombineering and stably expressed them in human ...
Cvačková, Z. (Zuzana), Matějů, D. (Daniel), Staněk, D. (David)   +2 more
openaire   +3 more sources

Brain and other central nervous system tumor statistics, 2021

Ca-A Cancer Journal for Clinicians, 2021
Kimberly D Miller, Quinn T Ostrom, Carol Kruchko Ba   +2 more
exaly  

[Splice site mutations and atherosclerosis: mechanisms and prediction models].

Zeitschrift fur Kardiologie, 2001
Nucleotide variants in genes of the lipid metabolism influence the risk of premature atherosclerosis. Ten percent of all single nucleotide substitutions in these genes involve splice sites. The effects of these changes on mRNA splicing and phenotypic severity, however, are not inherently obvious from the nucleotide sequence.
Y, von Kodolitsch, C A, Nienaber, M, Fliegner, P K, Rogan   +3 more
openaire   +1 more source

Antibody–drug conjugates: Smart chemotherapy delivery across tumor histologies

Ca-A Cancer Journal for Clinicians, 2022
Paolo Tarantino, Roberto Carmagnani Pestana, Shanu Modi   +2 more
exaly  

Cancer risk among World Trade Center rescue and recovery workers: A review

Ca-A Cancer Journal for Clinicians, 2022
Paolo Boffetta, Charles B Hall, Andrew C Todd   +2 more
exaly  

Soft‐tissue sarcoma in adults: An update on the current state of histiotype‐specific management in an era of personalized medicine

Ca-A Cancer Journal for Clinicians, 2020
Adriana C Gamboa, Alessandro Gronchi, Kenneth Cardona, Facs   +2 more
exaly  

Self-adaptive dual-metal-site pairs in metal-organic frameworks for selective CO2 photoreduction to CH4

Nature Catalysis, 2021
Hongliang Huang, Chunrui Wu
exaly  

Global cancer statistics

Ca-A Cancer Journal for Clinicians, 2011
Frank Bray
exaly