Results 111 to 120 of about 1,404,124 (275)

A nonsense mutation in PRNP associated with clinical Alzheimer's disease

Neurobiology of Aging, 2014
Here, we describe a nonsense haplotype in PRNP associated with clinical Alzheimer's disease. The patient presented an early-onset of cognitive decline with memory loss as the primary cognitive problem. Whole-exome sequencing revealed a nonsense mutation in PRNP (NM_000311, c.C478T; p.Q160*; rs80356711) associated with homozygosity for the V allele at ...
Guerreiro, Rita, Brás, José, Wojtas, Aleksandra, Rademakers, Rosa, Hardy, John, Graff-Radford, Neill   +5 more
openaire   +4 more sources

Direction of Translation and Size of Bacteriophage [var phi]X174 Cistrons [PDF]

, 1972
Translation of the bacteriophage [var phi]X174 genome follows cistron order D-E-F-G-H-A-B-C. To establish this, the position of a nonsense mutation on the genetic map was compared with the physical size (molecular weight) of the appropriate protein ...
Benbow, Robert M., Mayol, Robert F., Picchi, Joanna C., Sinsheimer, Robert L.   +3 more
core  

A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population [PDF]

, 2003
BACKGROUND: In recent years, several groups have reported dominant inheritance of obesity conferred by missense, nonsense and frameshift mutations in the melanocortin 4 receptor gene (MC4R).
Corbalan, M. (M.S.), Forga, L. (Luis), Hebebrand, J. (Joahnnes), Hinney, A. (Anke), Marti, A. (Amelia), Martinez, J.A. (José Alfredo)   +5 more
core   +1 more source

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Orphanet Journal of Rare Diseases, 2012
BackgroundUsher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP).
T. Eisenberger, R. Slim, A. Mansour, M. Nauck, G. Nürnberg, P. Nürnberg, C. Decker, C. Dafinger, I. Ebermann, C. Bergmann, H. Bolz   +10 more
semanticscholar   +1 more source

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]

, 2015
PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L, Austin, Cecilia, Awad, Issam A, De Souza, Jorge Marcondes, Gallione, Carol J, Gunel, Murat, Lee, Connie, Marchuk, Douglas A, McDonald, David A, Mikati, Abdul Ghani, Min, Wang, Rebeiz, Tania, Rorrer, Autumn, Shenkar, Robert, Shi, Changbin, Stockton, Rebecca A, Zhang, Lingjiao   +16 more
core   +2 more sources

Genome-wide SNP scan of pooled DNA reveals nonsense mutation in FGF20 in the scaleless line of featherless chickens

BMC Genomics, 2012
BackgroundScaleless (sc/sc) chickens carry a single recessive mutation that causes a lack of almost all body feathers, as well as foot scales and spurs, due to a failure of skin patterning during embryogenesis.
K. Wells, Y. Hadad, D. Ben-Avraham, J. Hillel, A. Cahaner, D. Headon   +5 more
semanticscholar   +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

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. [PDF]

, 2017
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis ...
Atanasova, Velina S., Bruckner-Tuderman, Leena, Chen, Mei, Gruber, Christina, Has, Cristina, Hofbauer, Josefina Piñón, Jiang, Qiujie, McGrath, John A., Prisco, Marco, South, Andrew P., Uitto, Jouni   +10 more
core   +1 more source

Identification and functional analysis of novel phosphorylation sites in the RNA surveillance protein Upf1. [PDF]

, 2013
One third of inherited genetic diseases are caused by mRNAs harboring premature termination codons as a result of nonsense mutations. These aberrant mRNAs are degraded by the Nonsense-Mediated mRNA Decay (NMD) pathway.
Bracho, Dina P, Cajigas, Iván J, Correa, María E, Estrella, Luis A, González, Carlos I, González-Feliciano, José A, Lasalde, Clarivel, León, Alfredo J, Rivera, Andrea V, Rodríguez-Cruz, Eva N, Vega, Irving E, Wilkinson, Miles F   +11 more
core   +1 more source

The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy

Nature Genetics, 2019
Premature termination codons (PTCs) can result in the production of truncated proteins or the degradation of messenger RNAs by nonsense-mediated mRNA decay (NMD).
Rik G. H. Lindeboom, M. Vermeulen, Ben Lehner, F. Supek   +3 more
semanticscholar   +1 more source