Results 61 to 70 of about 1,404,124 (275)

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]

, 2015
Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina, Ferrer, Marcela Maria, Giliberto, Florencia, Luce, Leonela Natalia, Ottaviani, Daniela, Parma, Diana Lidia, Szijan, Irena   +6 more
core   +1 more source

A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

Human Mutation, 2015
Mutations in the KCNJ13 gene that encodes the inwardly rectifying potassium channel Kir7.1 cause snowflake vitreoretinal degeneration (SVD) and leber congenital amaurosis (LCA).
B. Pattnaik, P. Shahi, M. Marino, Xinying Liu, Nathaniel York, S. Brar, J. Chiang, D. Pillers, E. Traboulsi   +8 more
semanticscholar   +1 more source

Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I

Disease Models & Mechanisms, 2016
Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence of nerve sheath tumors and considerable clinical heterogeneity.
Kairong Li, Ashley N. Turner, Min Chen, Stephanie N. Brosius, Trenton R. Schoeb, Ludwine M. Messiaen, David M. Bedwell, Kurt R. Zinn, Corina Anastasaki, David H. Gutmann, Bruce R. Korf, Robert A. Kesterson   +11 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.
S Shinoda, Bun-Ichiro Ono, Y Ishino
openaire   +3 more sources

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy [PDF]

, 2019
Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons.
Asselbergh, B, Baets, J, Beijer, D, De Bleecker, Jan, De Jonghe, P, Deconinck, T, Dotti, MT, López de Munain, A, Malandrini, A, Urtizberea, JA, Zulaica, M   +10 more
core   +1 more source

Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome

Leukemia Research Reports, 2015
Here we report two new RUNX1 mutations in one patient with congenital thrombocytopenia that transformed into a high grade myelodysplastic syndrome with myelomonocytic features. The first mutation was a nucleotide base substitution from guanine to adenine
Jessica M. Schmit, Daniel J. Turner, Robert A. Hromas, John R. Wingard, Randy A. Brown, Ying Li, Marilyn M. Li, William B. Slayton, Christopher R. Cogle   +8 more
doaj   +1 more source

Diagnosis of nonsense mutations in Aspergillus nidulans

Bioscience Reports, 1983
Three genotypically suppressible alleles,alX4, alcA125, and niaD500, are phenotypically suppressed by aminoglycoside antibiotics. Unsuppressible alleles at these loci are unaffected as are known missense mutations at the yA and gdhA loci. This is consistent with the premise that the suppressible mutations are nonsense and that this highly-allele ...
T. J. Roberts, S. D. Martinelli
openaire   +3 more sources

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity [PDF]

, 2003
We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.
Anke Hinney, Anne-Kathrin Wermter, Britta Brokamp, Brocke, Claudia Hess, Cody, Constanze Vogel, Dubern, Farooqi, Frank Geller, Gotoda, Gu, Hanspeter Goldschmidt, Hebebrand, Hebebrand, Helmut Remschmidt, Helmut Schäfer, Hinney, Hirschhorn, Ho, Jacobson, Johannes Hebebrand, Katzmarzyk, Kobayashi, Lubrano-Berthelier, Mergen, Milligan, Milligan, Miraglia Del Giudice, Neel, Ohshiro, Salomon, Sarah Hohmann, Sina, Spielman, Stunkard, Thomas Gudermann, Vaisse, Vaisse, Wolfgang Siegfried, Yeo   +40 more
core   +1 more source

UGA Nonsense Mutations in Salmonella typhimurium [PDF]

Journal of Bacteriology, 1970
Salmonella typhimurium strain LT-2 carries a weak UGA suppressor activity. This activity prevents the detection of some UGA mutants as auxotrophs and probably accounts for the rarity of his UGA mutants in this strain.
openaire   +3 more sources

Inhibition of Nonsense-Mediated mRNA Decay by Antisense Morpholino Oligonucleotides Restores Functional Expression of hERG Nonsense and Frameshift Mutations in Long-QT Syndrome

, 2010
Mutations in the human ether-a-go-go-related gene (hERG) cause long-QT syndrome type 2 (LQT2). We previously described a homozygous LQT2 nonsense mutation Q1070X in which the mutant mRNA is degraded by nonsense-mediated mRNA decay (NMD) leading to a ...
Bhuiyan, Bhuiyan, Conti, Curran, Dominski, Friedman, Frischmeyer, Gong, Gong, Gritz, Holbrook, Howard, Jearawiriyapaisarn, Kapplinger, Khajavi, Kuzmiak, Le Hir, Le Roy, Linde, Lykke-Andersen, Matthew R. Stump, Millat, Nagy, Napolitano, Nicholson, Qiuming Gong, Sanguinetti, Schwartz, Shimizu, Splawski, Stalder, Tester, Trudeau, Usuki, Wu, Yao, Zhang, Zhengfeng Zhou, Zhou, Zhou   +39 more
core   +1 more source