Results 61 to 70 of about 747,509 (280)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Mazen, I., Achermann, J.C., Rossi, R., Akkurt, I., Köhler, B., Cetindag, C., Biebermann, H., Grüters, A., Lin, L., Hiort, O.   +9 more
core  

Studied nonsense mutations.

, 2015
1Exon bearing the nonsense mutation (total number of exons of the corresponding gene)2In brackets, note the nucleotides immediately 5’ or 3’ to the stop codon. Point mutation resulting in PTC is underlined.Studied nonsense mutations.
Elena Garrido (784957), Mónica Cozar (784958), Daniel Grinberg (552161), Bru Cormand (381015), Concepción Arenas (784961), Marta Gómez-Grau (784956), Carmen Domínguez (784960), Richard A. Gatti (413268), Víctor Rodriguez-Sureda (784959), Lluïsa Vilageliu (784962)   +9 more
core   +1 more source

Ataluren treatment of patients with nonsense mutation dystrophinopathy [PDF]

Muscle & Nerve, 2014
ABSTRACTIntroduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. Methods: Randomized, double‐blind, placebo‐controlled study; males ≥5 years with nm‐dystrophinopathy ...
Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P, Connolly, Anne M, Day, John W, Flanigan, Kevin M, Goemans, Nathalie, Jones, Kristi J, Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B, Russman, Barry, Ryan, Monique M, Tulinius, Mar, Voit, Thomas, Moore, Steven A, Lee Sweeney, H, Abresch, Richard T, Coleman, Kim L, Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik, Barth, Jay, Elfring, Gary L, Reha, Allen, Spiegel, Robert J, O'donnell, Michael W, Peltz, Stuart W, Mcdonald, Craig M, FOR THE PTC124-GD-007-DMD STUDY GROUP,   +34 more
openaire   +5 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Establishment and rescue of fibroblast cell lines carrying a nonsense mutation of RB1 by CRISPR-based base editing

Scientific Reports
Pathogenic variants of the RB1 gene have commonly been found in many cancer types, including retinoblastoma. Nonsense mutations are the most common mutation type in retinoblastoma; however, few cell lines mimic nonsense mutations in the RB1 gene that are
Youngri Jung, Eunhee Seo, Soyeon Yang, Sangsu Bae, Jeong Hun Kim, Hyeon-ki Jang, Dong Hyun Jo   +6 more
doaj   +1 more source

Codon usage in vertebrates is associated with a low risk of acquiring nonsense mutations

Journal of Translational Medicine, 2011
Background Codon usage in genomes is biased towards specific subsets of codons. Codon usage bias affects translational speed and accuracy, and it is associated with the tRNA levels and the GC content of the genome.
Flegel Willy A, Schmid Pirmin
doaj   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway

Nature Communications, 2022
Currently, there is no therapy for patients with cystic fibrosis caused by nonsense mutations. Here the authors show that CFTR mRNAs with nonsense codons are predominantly degraded by the SMG6-mediated branch of the NMD pathway, providing potential ...
Edward J. Sanderlin, Melissa M. Keenan, Martin Mense, Alexey S. Revenko, Brett P. Monia, Shuling Guo, Lulu Huang   +6 more
doaj   +1 more source

Nonsense mutations in the can1 locus of Saccharomyces cerevisiae [PDF]

Journal of Bacteriology, 1983
Yeast mutants resistant to L-canavanine were selected. All were recessive and fell into the can1 complementation group. Nonsense mutations were identified among them by using a set of different suppressors. Frequencies of UAA, UAG, and presumed UGA mutations were 14.8, 0.8, and 0.4%, respectively.
B I, Ono, Y, Ishino, S, Shinoda
openaire   +2 more sources