Results 151 to 160 of about 245,400 (261)

FACS-based dual fluorescence reporter assay demonstrates efficacy of antisense oligonucleotide therapy of novel <i>PRPF3</i> intronic splice variant. [PDF]

Mol Ther Nucleic Acids
Dolgin V, Eremenko E, Narkis G, Mazor-Oring M, Gradstein L, Birk OS.   +5 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Utilizing mitochondrial genome sequences to understand population diversity among <i>Trichoderma</i> species. [PDF]

Front Fungal Biol
Wallis CM, Chen J, Mekdara N.
europepmc   +1 more source

Combining promoter and induced intron 1 mutations of <i>Vrn-A1a</i> does not accelerate flowering in wheat. [PDF]

Mol Breed
Strejčková B, Milec Z, Šlajsová T, Hudzieczek V, Alarcón-Reverte R, Sparks CA, Pecinka A, Pearce S, Šafář J.   +8 more
europepmc   +1 more source

Genetic analysis of <i>F8</i> mutations in five hemophilia a carriers. [PDF]

Front Med (Lausanne)
Sun H, Mei L, He X, Gao H, Huang X, Chen J, Cai M, Li P, Ge Y, Huang Y.   +9 more
europepmc   +1 more source

Pre-splicing conformation and stepwise circularization of a group I intron in Azoarcus pre-tRNA. [PDF]

Nat Commun
Hong Y, Liu J, Zhang X, Liu J, Li S, Zhang K.   +5 more
europepmc   +1 more source

Loss of U11/U12 spliceosome gene <i>ZCRB1</i> leads to aberrant ciliogenesis and WNT signaling. [PDF]

Life Sci Alliance
Pirzada MUR, Powell-Rodgers G, Richee J, Norppa AJ, Jungers CF, Colijn S, Frilander MJ, Stratman AN, Djuranovic S.   +8 more
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Genome-wide mapping of stress-responsive lncRNA, uc.104, reveals the chromatin-mediated regulation of stress and plasticity-related genes in the hippocampus of chronic restraint rats. [PDF]

Mol Brain
Verma AK, Roy B, Prall K, Hulwi E, Dwivedi Y.   +4 more
europepmc   +1 more source

Epigenetic Dysregulation of Somatostatin Receptors (SSTR) 1–5 and Therapeutic Implications in Neuroendocrine and Non‐Neuroendocrine Malignancies

International Journal of Cancer, EarlyView.
ABSTRACT Somatostatin receptors (SSTR) mediate the antiproliferative, antisecretory, and proapoptotic effects of somatostatin and its synthetic analogs. Their surface expression on neuroendocrine tumor (NET) cells is required for somatostatin analog therapy and radiopharmaceutical therapy (RPT).
Neeraj Kumari, Pablo Hoffmann, Laura Reichl, Maximilian Schmutz, Nina Fischer, Thi Tuong Vi Dang, Fulvia Ferrazzi, Pascal Johann, Michaela Kuhlen, Constantin Lapa, Rainer Claus   +10 more
wiley   +1 more source