| 1 |
26818177 | Studies on human eRF3-PABP interaction reveal the influence of eRF3a N-terminal glycin repeat on eRF3-PABP binding affinity and the lower affinity of eRF3a 12-GGC allele involved in cancer susceptibility. | 2016 |
1 |
| 2 |
27148439 | Studies of genetic variability of the hepatocyte nuclear factor-1α gene in an Indian maturity-onset diabetes of the young family. | 2016 |
2 |
| 3 |
25731620 | Therapeutic approaches to modulating glutathione levels as a pharmacological strategy in Alzheimer's disease. | 2015 |
2 |
| 4 |
25817250 | Therapeutic Approaches to ModulatingGlutathione Levels as a Pharmacological strategy in Alzheimer's Disease. | 2015 Mar 24 |
1 |
| 5 |
25991579 | Impact of the MLL1 morphemes on codon utilization and preservation in CpG islands. | 2015 Sep |
1 |
| 6 |
26021842 | Prevalence of AIP mutations in a series of Turkish acromegalic patients: are synonymous AIP mutations relevant? | 2015 Dec |
1 |
| 7 |
24428873 | First North American case of Hemoglobin Shepherds Bush (β 74[E18] Gly → Asp) in a central Pennsylvania family. | 2014 Jan 15 |
1 |
| 8 |
25259833 | A uniquely prevalent nonnucleoside reverse transcriptase inhibitor resistance mutation in Russian subtype A HIV-1 viruses. | 2014 Nov 13 |
1 |
| 9 |
21454242 | A novel missense mutation in the MEN1 gene in a patient with multiple endocrine neoplasia type 1. | 2011 May-Jun |
1 |
| 10 |
20441557 | Codon usage biases in Alzheimer's disease and other neurodegenerative diseases. | 2010 May |
1 |
| 11 |
20545900 | Identification of the novel allele HLA-B*51:84 by sequence-based typing method in a Taiwanese individual. | 2010 Oct |
1 |
| 12 |
19504432 | [Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy]. | 2009 Jun |
1 |
| 13 |
18342853 | Transporter associated with antigen processing (TAP) 1 gene polymorphisms in patients with hypersensitivity pneumonitis. | 2008 Apr |
2 |
| 14 |
17445538 | Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia. | 2007 May |
1 |
| 15 |
17560037 | Detection and biochemical characterisation of a novel polymorphism in the human GSTP1 gene. | 2007 Aug |
1 |
| 16 |
17120122 | Primordia vita. Deconvolution from modern sequences. | 2006 Dec |
1 |
| 17 |
15389799 | Effect of GGC (glycine) repeat length polymorphism in the human androgen receptor on androgen action. | 2005 Feb 1 |
2 |
| 18 |
15936459 | Molecular scanning of the betacellulin gene for mutations in type 2 diabetic patients. | 2005 Jun |
1 |
| 19 |
16100771 | Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women. | 2005 Aug |
1 |
| 20 |
16141006 | Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. | 2005 Sep |
1 |
| 21 |
15192815 | [Mutational analysis of three Chinese pedigrees with adrenoleukodystrophy]. | 2004 Jun |
1 |
| 22 |
11835337 | Mutation of bcl-x gene in non-Hodgkin's lymphoma. | 2002 Jan |
1 |
| 23 |
11843288 | Triple heterozygosity of a hemoglobin variant: hemoglobin Pyrgos with other hemoglobinopathies. | 2002 Jan |
1 |
| 24 |
11986213 | Fibrinogen Hillsborough: a novel gammaGly309Asp dysfibrinogen with impaired clotting. | 2002 May 15 |
1 |
| 25 |
11675599 | Distinct stages of protein evolution as suggested by protein sequence analysis. | 2001 Oct-Nov |
1 |
| 26 |
10664521 | A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism. | 2000 Feb |
1 |
| 27 |
9519875 | Identification of a human homolog of the Drosophila neuralized gene within the 10q25.1 malignant astrocytoma deletion region. | 1998 Feb 26 |
1 |
| 28 |
9583604 | HIV-1 strains specific for Dutch injecting drug users in heterosexually infected individuals in The Netherlands. | 1998 Apr 16 |
1 |
| 29 |
9621565 | [Mechanism of resistance of Shigella flexneri 2a resistant to new quinolone antibiotics]. | 1998 Apr |
1 |
| 30 |
9790257 | G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. | 1998 Apr |
1 |
| 31 |
9392053 | Induction of ICAM-1, HLA-DR molecules by IFN-gamma and oncogene expression in human bladder cancer cell lines. | 1997 |
1 |
| 32 |
9815849 | Androgen receptor variants with short glutamine or glycine repeats may identify unique subpopulations of men with prostate cancer. | 1997 Sep |
1 |
| 33 |
8608574 | K-ras point mutations in cancerous and noncancerous biliary epithelium in patients with pancreaticobiliary maljunction. | 1996 Apr 15 |
1 |
| 34 |
7576181 | Expression of the human T-cell receptor V beta 5.3 in Escherichia coli by thermal induction of the trc promoter: nucleotide sequence of the lacIts gene. | 1995 Nov |
1 |
| 35 |
7757974 | Molecular analysis of the cyclin-dependent kinase inhibitor gene p27/Kip1 in human malignancies. | 1995 Jun 1 |
2 |
| 36 |
7720110 | [Sequence analysis of N--ras and p53 gene mutation in the human lung adenocarcinoma cell lines]. | 1994 Dec |
1 |
| 37 |
8012773 | Frequency of H-ras mutations in human bladder cancer detected by direct sequencing. | 1994 May |
2 |
| 38 |
8135811 | cDNA sequences encoding human fructose 1,6-bisphosphatase from monocytes, liver and kidney: application of monocytes to molecular analysis of human fructose 1,6-bisphosphatase deficiency. | 1994 Mar 15 |
1 |
| 39 |
8221663 | Mutations of the p53 gene are involved in Ewing's sarcomas but not in neuroblastomas. | 1993 Nov 1 |
1 |
| 40 |
1458688 | Gene frequency and partial protein characterization of an allelic variant of mannan binding protein associated with low serum concentrations. | 1992 Dec |
1 |
| 41 |
1477092 | Diallelic polymorphism may explain variations of the blood concentration of mannan-binding protein in Eskimos, but not in black Africans. | 1992 Dec |
1 |
| 42 |
1593215 | Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C. | 1992 Jun |
1 |
| 43 |
1598909 | Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product. | 1992 Jun |
1 |
| 44 |
2295596 | A mutation in the small (alpha) subunit of glycyl-tRNA synthetase affects amino acid activation and subunit association parameters. | 1990 Jan 15 |
1 |
| 45 |
2572591 | Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. | 1989 Nov 5 |
1 |
| 46 |
6262530 | Nucleotide sequence changes in polyoma virus A gene mutants. | 1981 Mar |
1 |