Results 321 to 330 of about 304,363 (385)

M6A-dependent RNA condensation underlies FUS autoregulation and can be harnessed for ALS therapy development. [PDF]

Sci Adv
Huang WP, Kumar V, Yap K, An H, John SJ, Hodgson RE, Avila AS, Day E, Ellis BCS, Chung TH, Lord J, Müller-McNicoll M, Makeyev EV, Shelkovnikova TA.   +13 more
europepmc   +1 more source

Genome‐wide analysis of somatic noncoding mutation patterns and mitochondrial heteroplasmic shift in type B1 and B2 thymomas

The Journal of Pathology, EarlyView.
Abstract Type B1 and B2 thymomas are lymphocyte‐rich malignant tumours with few somatic mutations in protein‐coding regions of the nuclear genome; nonetheless, noncoding regions remain uncharacterized. Here, we developed a method to isolate pure thymoma cells from lymphocyte‐rich tissues, and then performed genome‐wide deep sequencing. The total number
Kohei Fujikura, Isabel Correa, Susanne Heck, Kaoru Watanabe, Juliet King, Emma McLean, Susan Ndagire, Yoshihisa Takahashi, Masahiko Kuroda, Andrea Bille, Daisuke Nonaka   +10 more
wiley   +1 more source

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation

The Journal of Pathology, EarlyView.
Abstract Splicing dysregulation is a relevant mechanism of pathogenicity for variants in disease susceptibility genes. Variants affecting the critical intronic +1 and +2 GT nucleotides of the 5’ splice sites (5'ss) are generally strong indicators of pathogenicity.
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno‐Martínez, Alicia García‐Álvarez, Alberto Valenzuela‐Palomo, Pedro Pérez‐Segura, Miguel de la Hoya, Eladio A Velasco‐Sampedro   +7 more
wiley   +1 more source

RNA <i>trans</i>-splicing to rescue β-catenin: A novel approach for treating CTNNB1-Haploinsufficiency disorder. [PDF]

Mol Ther Nucleic Acids
Maruna M, Sušjan-Leite P, Meško M, Miroševič Š, Jerala R.   +4 more
europepmc   +1 more source

Interactive Bioinformatics Lab: Using Genomic Databases for Active Learning in Dentistry

Journal of Dental Education, EarlyView.
François Isnaldo Dias Caldeira, Raquel Mantuaneli Scarel‐Caminaga   +1 more
wiley   +1 more source

Emicizumab in Previously Untreated Patients and Minimally Treated Patients With Hemophilia A: A Comparative Study Between Two International Cohorts

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Hemophilia A (HA) is a rare bleeding disorder caused by coagulation factor VIII (FVIII) deficiency. Prophylactic FVIII replacement therapy is essential for preventing bleeds, but it carries a risk of inhibitor development, especially in previously untreated and minimally treated patients (PUPs and MTPs, respectively).
Sarina Levy‐Mendelovich, Tlalit Barhod, Ivan Budnik, Jonathan Lancashire, Jesal Patel, Assaf Arie Barg, Einat Avishai, Rima Dardik, Tami Brutman Barazani, Tami Livnat, Jayashree Motwani, Gili Kenet   +11 more
wiley   +1 more source

Inhibition of PfCLK3 a master regulator of malaria parasite RNA-splicing provides the basis for a radical cure for malaria

Janha O, Olaniyan N, Diam GK, Sharma S, Beraldi D, Jamieson AG, Bozdech Z, Tobin AB, Modrzynska K.   +8 more
europepmc   +1 more source

Arginine, a key amino acid for nitrogen nutrition and metabolism of forest trees. [PDF]

J Exp Bot
Ávila C, Llebrés MT, Cánovas FM, Castro-Rodríguez V.   +3 more
europepmc   +1 more source

Computational De Novo Design of Group II Introns Yields Highly Active Ribozymes. [PDF]

Chembiochem
Szokoli D, Nwosu NE, Glatt LM, Mutschler H.   +3 more
europepmc   +1 more source

Mitochondrial genome characterization, evolution and intron dynamics of the entomopathogenic genus <i>Cordyceps</i>. [PDF]

Front Microbiol
Jia J, Li C, Tang M, Liao H, Yang Z, Wang Y, Li M, Zeng W, Wang Y.   +8 more
europepmc   +1 more source