Results 71 to 80 of about 29,161 (207)
Developmental Dynamics, EarlyView.Abstract Background The promoters and enhancers of heat shock genes, such as the 1.5‐kb promoter of the zebrafish hsp70l gene, are valuable tools for temporal activation of transgenes. It has been widely purported that heat shock treatments result in ubiquitous expression of hsp70l‐driven transgenes.
Jong‐Su Park, Xiangyun Wei
wiley +1 more source
Exon Skipping of AIMP2 and Lymphomagenesis
Blood, 2018 Abstract ARS-interacting multifunctional protein 2 (AIMP2), the component of aminoacyl-tRNA synthase complex, acts as a potent tumor suppressor in conjunction with p53. The second exon deficient AIMP2 generated by alternative splicing mechanism (AIMP2-DX2) induces loses its important role as a signaling modulator.
Doyeun Kim +12 more
openaire +1 more source
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2017 Antisense-mediated exon skipping is a promising approach for the treatment of Duchenne muscular dystrophy (DMD), a rare life-threatening genetic disease due to dystrophin deficiency.
Ngoc Lu-Nguyen +5 more
doaj +1 more source
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 +11 more
wiley +1 more source
Rescue of Dystrophin Protein Expression by Interfering of mRNA Processing [PDF]
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī YazdIntroduction: Exon skipping has emerged as one of the most promising therapeutic strategies for Duchenne muscular dystrophy (DMD), because it restores the correct reading frame of dystrophin mRNA without directly modifying the genome.
Majid Mojarrad +3 more
doaj
Journal of Clinical Laboratory Analysis, EarlyView.Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee +8 more
wiley +1 more source
Journal of Parenteral and Enteral Nutrition, EarlyView.Abstract Familial hemophagocytic lymphohistiocytosis type 5 is caused by biallelic pathogenic variants in STXBP2, which encodes syntaxin‐binding protein, a key regulator of vesicle trafficking. In addition to immune dysregulation, patients with familial hemophagocytic lymphohistiocytosis type 5 may present with severe, persistent diarrhea associated ...
Hiroyuki Tanaka +5 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade +8 more
wiley +1 more source
Deleterious c-Cbl Exon Skipping Contributes to Human Glioma
Neoplasia: An International Journal for Oncology Research, 2015 c-Cbl, a RING-type ubiquitin E3 ligase, downregulates various receptor tyrosine kinases (e.g., epidermal growth factor receptor (EGFR)), leading to inhibition of cell proliferation.
Min Woo Seong +10 more
doaj +1 more source