| 1 |
32163000 | Expression of chromogranin A-derived antifungal peptide CGA-N12 in Pichia pastoris. | 2020 Dec |
1 |
| 2 |
29430769 | Illuminating structure and acyl donor sites of a physiological transglutaminase substrate from Streptomyces mobaraensis. | 2018 May |
1 |
| 3 |
28523359 | Arginine CGA codons as a source of nonsense mutations: a possible role in multivariant gene expression, control of mRNA quality, and aging. | 2017 Oct |
4 |
| 4 |
28840768 | Phenotypic Evaluation of a Novel Nucleotide Substitution (HBD: c.442T>C) on the δ-Globin Gene. | 2017 May |
1 |
| 5 |
26701604 | Prevalence of Titin Truncating Variants in General Population. | 2015 |
2 |
| 6 |
24551296 | Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP. | 2014 |
1 |
| 7 |
22551548 | A prospective biological study in relation to a family with Li-Fraumeni syndrome. | 2012 May |
1 |
| 8 |
22815628 | Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. | 2012 |
1 |
| 9 |
20025859 | Location of the mutation site in the first two reported cases of analbuminemia. | 2010 Mar |
1 |
| 10 |
21042587 | Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess. | 2010 Oct 22 |
1 |
| 11 |
19806578 | [Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract]. | 2009 Oct |
1 |
| 12 |
17624554 | The association between RAD18 Arg302Gln polymorphism and the risk of human non-small-cell lung cancer. | 2008 Feb |
1 |
| 13 |
17991725 | Proteolytic cleavage of human chromogranin a containing naturally occurring catestatin variants: differential processing at catestatin region by plasmin. | 2008 Feb |
2 |
| 14 |
17369172 | [Case report of a rare platelet-specific antigen HPA-10bw allele found in Chinese mainland]. | 2007 Feb |
1 |
| 15 |
17510493 | Oral treatment with L-lysine and L-arginine reduces anxiety and basal cortisol levels in healthy humans. | 2007 Apr |
1 |
| 16 |
17914568 | Single nucleotide polymorphism in the RAD18 gene and risk of colorectal cancer in the Japanese population. | 2007 Nov |
1 |
| 17 |
17065069 | A Turkish case with molybdenum cofactor deficiency. | 2006 |
1 |
| 18 |
17415970 | [Study of genetic mutation locus in a family with congenital aniridia]. | 2006 Dec |
1 |
| 19 |
15663510 | Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. | 2005 Jan |
1 |
| 20 |
15740668 | Mutation analysis of PAX6 gene in a large Chinese family with aniridia. | 2005 Feb 20 |
1 |
| 21 |
14759560 | Conformational preferences and activities of peptides from the catecholamine release-inhibitory (catestatin) region of chromogranin A. | 2004 Apr 15 |
2 |
| 22 |
15550149 | ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene. | 2004 Nov |
1 |
| 23 |
15376949 | Folding type specific secondary structure propensities of synonymous codons. | 2003 Sep |
1 |
| 24 |
12024010 | Regulation of c-myc mRNA decay by translational pausing in a coding region instability determinant. | 2002 Jun |
1 |
| 25 |
12361482 | The human L-threonine 3-dehydrogenase gene is an expressed pseudogene. | 2002 Oct 2 |
1 |
| 26 |
11293168 | Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma. | 2001 Apr |
1 |
| 27 |
11355300 | Mutation analysis of hBUB1, hBUBR1 and hBUB3 genes in glioblastomas. | 2001 Apr |
1 |
| 28 |
11511294 | A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. | 2001 Aug |
1 |
| 29 |
11529920 | Molecular studies and NK cell function of a new case of TAP2 homozygous human deficiency. | 2001 Aug |
1 |
| 30 |
11571557 | A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia. | 2001 Sep |
1 |
| 31 |
11733654 | Identification of missense mutation (G365R) of the butyrylcholinesterase (BCHE) gene in a Japanese patient with familial cholinesterasemia. | 2001 Aug |
1 |
| 32 |
11798852 | [Identification of a nonsense mutation causing X-linked RP2 in two Chinese families]. | 2001 Jan 25 |
1 |
| 33 |
10675493 | The p16INK4alpha/p19ARF gene mutations are infrequent and are mutually exclusive to p53 mutations in Indian oral squamous cell carcinomas. | 2000 Mar |
1 |
| 34 |
10767182 | An unexpected affected female patient in a classical Lesch-Nyhan family. | 2000 Mar |
1 |
| 35 |
10830991 | A novel non-pathogenetic polymorphism of the APC gene in a patient with familial adenomatous polyposis coli. | 2000 Apr |
1 |
| 36 |
10875933 | Structure-activity relationships of chromogranin A in cell adhesion. Identification of an adhesion site for fibroblasts and smooth muscle cells. | 2000 Sep 22 |
2 |
| 37 |
10944442 | Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. | 2000 Aug 18 |
1 |
| 38 |
10465111 | Mutational analysis of the N-ras, p53, p16INK4a, CDK4, and MC1R genes in human congenital melanocytic naevi. | 1999 Aug |
1 |
| 39 |
10545044 | A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. | 1999 Oct |
1 |
| 40 |
9495519 | Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor. | 1998 Feb |
1 |
| 41 |
9255042 | DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome. | 1997 Jun |
1 |
| 42 |
8602361 | The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing. | 1996 Feb 1 |
1 |
| 43 |
8616809 | p53 gene mutation in thyroid carcinoma. | 1996 May 15 |
1 |
| 44 |
8621763 | Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. | 1996 Apr 15 |
1 |
| 45 |
8704215 | Hereditary spherocytosis with band 3 deficiency. Association with a nonsense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas). | 1996 Aug 1 |
1 |
| 46 |
7603523 | The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). | 1995 |
1 |
| 47 |
7704243 | N-ras mutation of thyroid tumor with special reference to the follicular type. | 1995 Jan |
1 |
| 48 |
21552920 | Mutational state of p16/cdkn2 and vhl genes in squamous-cell carcinoma of the oral cavity. | 1995 Oct |
1 |
| 49 |
7513946 | Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. | 1994 May |
1 |
| 50 |
7704558 | Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. | 1994 |
1 |