Results 21 to 30 of about 154,476 (163)
Scientific Reports, 2022 Anticoagulant rodenticides (AR) remain the most effective chemical substances used to control rodents in order to limit their agricultural and public health damage in both rural and urban environments.
Antoine Rached +6 more
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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 +2 more
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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 +5 more
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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 +6 more
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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 +5 more
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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
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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 +8 more
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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 +2 more
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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 +3 more
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Italian Journal of Pediatrics, 2020 Background MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism.
Zhi Yi +7 more
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