Results 21 to 30 of about 4,883 (116)

Classification of Missense Mutations of Disease Genes [PDF]

Journal of the American Statistical Association, 2005
Clinical management of individuals found to harbor a mutation at a known disease-susceptibility gene depends on accurate assessment of mutation-specific disease risk. For missense mutations (MMs)-mutations that lead to a single amino acid change in the protein coded by the gene-this poses a particularly challenging problem.
Xi Zhou, Edwin S. Iversen, Giovanni Parmigiani   +2 more
openaire   +3 more sources

Missense mutations of human homeoboxes: A review [PDF]

Human Mutation, 2001
The homeodomain (encoded by the homeobox) is the DNA-binding domain of a large variety of transcriptional regulators involved in controlling cell fate decisions and development. Mutations of homeobox-containing genes cause several diseases in humans. A variety of missense mutations giving rise to human diseases have been described.
D'Elia AV, TELL, Gianluca, Paron I, Pellizzari L, LONIGRO, Incoronata, DAMANTE, Giuseppe   +5 more
openaire   +3 more sources

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

BMC Medical Genetics, 2018
Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with ...
Xing Wu, Lanlan Chen, Yixin Zhang, Hainan Xie, Meirong Xue, Yi Wang, Houbin Huang   +6 more
doaj   +1 more source

PI3K: Missense mutation motivates malignancy [PDF]

Cancer Biology & Therapy, 2004
Commentary to: The PIK3CA Gene is Mutated with High Frequency in Human Breast Cancers Kurtis E. Bachman, Pedram Argani, Yardena Samuels, Natalie Silliman, Janine Ptak, Steve Szabo, Hiroyuki Konishi, Bedri Karakas, Brian G. Blair, Clarence Lin, Brock A. Peters, Victor E.
Valerie Stone, Hawthorne, Dihua, Yu
openaire   +2 more sources

Experimental analysis of bladder cancer-associated mutations in EP300 identifies EP300-R1627W as a driver mutation

Molecular Medicine, 2023
Background Bladder cancer (BCa) is the most common malignant tumor of the urinary system, with transitional cell carcinoma (TCC) being the predominant type.
Mayao Luo, Yifan Zhang, Zhuofan Xu, Shidong Lv, Qiang Wei, Qiang Dang   +5 more
doaj   +1 more source

Phenylketonuria missense mutations in the Mediterranean

Genomics, 1991
Two missense mutations have been identified in the phenylalanine hydroxylase (PAH) genes of an Italian phenylketonuria (PKU) patient. Both mutations occurred in exon 7 of the PAH gene, resulting in the substitution of Trp for Arg at amino acid 252 (R252W) and of Leu for Pro (P281L) at amino acid 281 of the protein.
Y, Okano, T, Wang, R C, Eisensmith, R, Longhi, E, Riva, M, Giovannini, R, Cerone, C, Romano, S L, Woo   +8 more
openaire   +2 more sources

Mutator phenotypes of common polymorphisms and missense mutations in MSH2 [PDF]

Current Biology, 1999
Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in the DNA mismatch repair gene hMSH2 [1], the human homologue of the Escherichia coli MutS gene. These are mostly nonsense, frameshift or deletion mutations that result in loss of intact protein and complete inactivation of DNA mismatch repair.
Drotschmann, Karin, Clark, Alan B., Kunkel, Thomas A.   +2 more
openaire   +2 more sources

Analyzing Effects of Naturally Occurring Missense Mutations [PDF]

Computational and Mathematical Methods in Medicine, 2012
Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not.
Zhe Zhang, Maria A. Miteva, Lin Wang, Emil Alexov   +3 more
openaire   +3 more sources

Behavioral Phenotypes of Disc1 Missense Mutations in Mice [PDF]

Neuron, 2007
To support the role of DISC1 in human psychiatric disorders, we identified and analyzed two independently derived ENU-induced mutations in Exon 2 of mouse Disc1. Mice with mutation Q31L showed depressive-like behavior with deficits in the forced swim test and other measures that were reversed by the antidepressant bupropion, but not by rolipram, a ...
Clapcote, S. J., Lipina, T. V., Millar, J. K., Mackie, S., Christie, S., Ogawa, F., Lerch, J. P., Trimble, K., Uchiyama, M., Sakuraba, Y., Kaneda, H., Shiroishi, T., Houslay, M. D., Henkelman, R. M., Sled, J. G., Gondo, Y., Porteous, D. J., Roder, J. C.   +17 more
openaire   +2 more sources

CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma

Clinical Medicine Insights: Case Reports, 2019
Background: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is the most severe phenotype of cryopyrin-associated periodic syndromes (CAPS) and is caused by a missense mutation in NLRP3 gene.
Farhad Salehzadeh, Manuchehr Barak, Saied Hosseiniasl, Ehsan Shahbazfar   +3 more
doaj   +1 more source