Results 141 to 150 of about 204,351 (287)

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Stop that nonsense!

eLife, 2014
Cells can avoid the effects of so-called ‘nonsense’ mutations by several methods, including a newly discovered mechanism driven by microRNA molecules.
Catherine L Jopling
doaj   +1 more source

Structural Basis of the Light‐Switchable Interaction between an Azobenzene Side Chain in a Biosynthetic Protein and α‐Cyclodextrin

ChemistryOpen, EarlyView.
X‐ray crystallographic analysis of super‐folder green fluorescent protein (sfGFP), a common reporter protein, displaying p‐(phenylazo)‐L‐phenylalanine (Pap) at amino acid position 39 on its surface in complex with α‐cyclodextrin (α‐CD) reveals an unexpected conformation of the photoswitchable side chain and illustrates its light‐dependent ...
Andreas Eichinger, Peter Mayrhofer, Markus R. Anneser, Leonie Jarzinka, Arne Skerra   +4 more
wiley   +1 more source

Novel Mutation in the TSC2 Gene Associated with Prenatally Diagnosed Cardiac Rhabdomyomas and Cerebral Tuberous Sclerosis

Journal of the Formosan Medical Association, 2006
Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC). TSC is caused by mutations in the genes TSC1 and TSC2.
Chih-Ping Chen, Yi-Ning Su, Chia-Cheng Hung, Jin-Chung Shih, Wayseen Wang   +4 more
doaj   +1 more source

Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing

The Journal of Pathology, EarlyView.
Abstract Netherton syndrome (NS) is a rare, severe, and often life‐threatening disease for which current therapeutic approaches are limited and show variable effectiveness. NS is characterized by excessive epidermal desquamation that results in a highly defective epidermal barrier, constitutive skin inflammation, allergies, and hair abnormalities.
Eleni Zingkou, Evangelos Bisyris, Georgios Pampalakis, Georgia Sotiropoulou   +3 more
wiley   +1 more source

Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

Molecular Medicine, 2018
Premature termination codons (PTCs) in the coding regions of mRNA lead to the incorrect termination of translation and generation of non-functional, truncated proteins.
Maciej Dabrowski, Zuzanna Bukowy-Bieryllo, Ewa Zietkiewicz   +2 more
doaj   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Codon 201Gly Polymorphic Type of the DCC Gene is Related to Disseminated Neuroblastoma

Neoplasia: An International Journal for Oncology Research, 2001
The deleted in colorectal carcinoma (DCC) gene is a potential tumor- suppressor gene on chromosome 18821.3. The relatively high frequency of loss of heterozygosity (LOH) and loss of expression of this gene in neuroblastoma, especially in the advanced ...
Xiao-Tang Kong, Seung Hoon Choi, Fumio Bessho, Miyuki Kobayashi, Ryoji Hanada, Keiko Yamamoto, Yasuhide Hayashi   +6 more
doaj   +1 more source

Nonsense suppression therapies in human genetic diseases

Cellular and Molecular Life Sciences, 2021
Patrícia Martins-Dias, L. Romão
semanticscholar   +1 more source

Human Citrate Synthase Post‐Translational Modification Mimics and Molecular Dynamic Simulations Demonstrate Attenuation of Acetyl‐CoA/CoA Binding

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Human citrate synthase (hCS) is a mitochondrial enzyme that catalyzes the aldol condensation of acetyl coenzyme A (AcCoA) to oxaloacetate to form citrate in the TCA cycle. CS activity is important for aerobic exercise performance and basic metabolic function as a housekeeping enzyme.
Noah Shackelford, Zach Zavodny, Nathan Fancher, Michael A. Moxley   +3 more
wiley   +1 more source