Results 311 to 320 of about 412,807 (382)

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy. [PDF]

Calcif Tissue Int
Lim WT, Nenke M, Rawlings L, Wells A, Vakulin C, Waters W, De Sousa S.   +6 more
europepmc   +1 more source

Identification of a novel component of the nonsense-mediated mRNA decay pathway by use of an interacting protein screen.

, 1995
Fei He, Allan Jacobson
openalex   +1 more source

The Antagonistic Gene Paralogs Upf3a and Upf3b Govern Nonsense-Mediated RNA Decay

Cell, 2016
Eleen Y. Shum, Samantha H. Jones, A. Shao, Jennifer N. Dumdie, M. Krause, Wai-kin Chan, Chih‐Hong Lou, Josh L. Espinoza, Hye‐Won Song, Mimi H. Phan, Madhuvanthi Ramaiah, Lulu Huang, J. McCarrey, K. Peterson, D. G. Rooij, H. Cook-Andersen, M. Wilkinson   +16 more
semanticscholar   +1 more source

Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland

ESC Heart Failure, EarlyView.
Abstract Aims To investigate the genetics, cardiac phenotype and cardiovascular outcomes of Finnish Fabry patients. Methods and results Among the 109 patients with Fabry disease (FD) diagnosed in Finland by 2018, 97 (89%; 32 males and 65 females, mean ages 42 and 52 years) were followed for a mean of 12 years.
Kati Valtola, Päivi Pietilä‐Effati, Jonna M. E. Männistö, Susanne Walls, Ilkka Kantola, Johanna Kuusisto   +5 more
wiley   +1 more source

Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice

, 1997
Ryoko Araki, Akira Fujimori, Kiyohiro Hamatani, Kazuei Mita, Toshiyuki Saito, Masahiko Mori, Ryutaro Fukumura, Mitsuoki Morimyo, Masahiro Muto, Masahiro Itoh, Kouichi Tatsumi, Masumi Abe   +11 more
openalex   +1 more source

Novel Pathogenic Variant in Exon 31 of the TSC2 Gene Associated With a Severe Phenotype of Tuberous Sclerosis

Annals of the Child Neurology Society, EarlyView.
Tabitha D'souza, Laura Davids, Prabhumallikarjun Patil   +2 more
wiley   +1 more source

What Is, What Was and What Could Be: Simultaneously Comparing How Emotional Reactions to the Past, Present and Future Predict Collective Action

European Journal of Social Psychology, EarlyView.
ABSTRACT Although separate research programs examine how emotional reactions to the past, present and future predict collective action, research has yet to compare them simultaneously. Across three studies (N = 2764) and two social issues (plastic pollution and abortion), we examined whether reflecting on a positive or negative past, present or future ...
Morgana Lizzio‐Wilson, Michael Wenzel, Emma F. Thomas, Danny Osborne, Linda J. Skitka   +4 more
wiley   +1 more source

An engineered glutamic acid tRNA for efficient suppression of pathogenic nonsense mutations. [PDF]

Nucleic Acids Res
Specht C, Tapia A, Penrod S, Soriano GA, Awawdeh A, Alshawi SA, White CA, Beaudoin JD, Doud EH, Vargas-Rodriguez O, Huang Y, Tharp JM.   +11 more
europepmc   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source