Results 111 to 120 of about 199,160 (290)

Nonsense‐mediated mRNA decay: novel mechanistic insights and biological impact

Wiley Interdisciplinary Reviews - RNA, 2016
Nonsense‐mediated mRNA decay (NMD) was originally coined to define a quality control mechanism that targets mRNAs with truncated open reading frames due to the presence of a premature termination codon.
E. Karousis, Sofia Nasif, O. Mühlemann
semanticscholar   +1 more source

A Novel G542X CFTR Rat Model of Cystic Fibrosis Is Sensitive to Nonsense Mediated Decay

Frontiers in Physiology, 2020
Nonsense mutations that lead to the insertion of a premature termination codon (PTC) in the cystic fibrosis transmembrane conductance regulator (CFTR) transcript affect 11% of patients with cystic fibrosis (CF) worldwide and are associated with severe ...
Jyoti Sharma, Jyoti Sharma, Joseph Abbott, Lauren Klaskala, Guojun Zhao, Susan E. Birket, Susan E. Birket, Steven M. Rowe, Steven M. Rowe   +8 more
doaj   +1 more source

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications [PDF]

, 2017
Purpose: Epidermolysis bullosa (EB), the prototype of heritable blistering diseases, is caused by mutations in as many as 19 distinct genes. In this study, we evaluated the molecular basis of EB in 93 families, many of them of unknown subtype. Methods:
Abiri, Maryam, Aghazadeh, Nessa, Bagherian, Hamideh, Barzegar, Mohammadreza, Fortina, Paolo, Hamid, Mohammad, Mahmoudi, Hamidreza, Norouz-zadeh, Sara, Saeidian, Amir Hossein, Sotoudeh, Soheila, Touati, Andrew, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zahabiyon, Mahla, Zeinali, Sirous   +15 more
core   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Identification of novel post-transcriptional features in olfactory receptor family mRNAs. [PDF]

, 2015
Olfactory receptor (Olfr) genes comprise the largest gene family in mice. Despite their importance in olfaction, how most Olfr mRNAs are regulated remains unexplored.
Espinoza, Josh L, Ramaiah, Madhuvanthi, Shum, Eleen Y, Wilkinson, Miles F   +3 more
core   +1 more source

AUG sequences are required to sustain nonsense-codon-mediated suppression of splicing [PDF]

Nucleic Acids Research, 2006
More than 90% of human genes are rich in intronic latent 5' splice sites whose utilization in pre-mRNA splicing would introduce in-frame stop codons into the resultant mRNAs. We have therefore hypothesized that suppression of splicing (SOS) at latent 5' splice sites regulates alternative 5' splice site selection in a way that prevents the production of
Galit Yahalom, Gideon Kass, Joseph Sperling, Ruth Sperling, Eyal Kamhi, Yael Hacham   +5 more
openaire   +3 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant

Human Genome Variation, 2021
An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 ...
Kok-Siong Poon, Karen Mei-Ling Tan, Kah Yin Loke   +2 more
doaj   +1 more source

Characterization and prognostic value of mutations in exons 5 and 6 of the p53 gene in patients with colorectal cancers in central Iran [PDF]

, 2013
Background/Aims: We aimed to investigate the relation-ships among various mutations of the p53 gene and their protein products, histological characteristics, and disease prognosis of primary colorectal cancer in Isfahan, central Iran.
Anwar, Bazan, Carson, Chang, Chang, Coombs, Cunningham, Derakhshan, Diez, Duffy, Erster, Gryfe, Hollstein, Jemal, Karsa, Kato, Lam, Leahy, Levine, Lim, Mahdavinia, Markowitz, Mehdi Nikbakht, Mohammad H. Derakhshan, Mohammad J. Namazi, Mohammad Salehi, Molleví, Mousavi, Munro, Nasierowska-Guttmejer, Nunes, Pan, Rahim Golmohammadi, Rogel, Russo, Ryan, Sadjadi, Schmitt, Slattery, Tang, Theodoropoulos, Tominaga, Vogelstein, Yamashita, Yee, Zhang, Zhao   +46 more
core   +1 more source