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ABSTRACT: Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant disorder characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities and caused by the mutations in the DSRAD gene.
Two Chinese pedigrees of typical DSH were subjected to mutation detection in DSRAD. Direct sequencing of all PCR products of the whole coding regions of DSRAD was performed to identify the mutation.
The c.1615delG (p.V539fs) mutation was found in the affected members but not in the healthy individuals in family 1 and the c.ins1372-9 CCACAGAT (p.D458fs) mutation was found in patients but not in the healthy members of family 2.
Our study found two novel frameshift mutations in the DSRAD gene. We add new variants to the knowledge of DSRAD mutations in DSH.
International journal of dermatology 11/2011; 51(8):920-2. · 1.18 Impact Factor
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ABSTRACT: Darier disease (DD; OMIM 124200) is a rare, autosomal dominant hereditary skin disorder characterized by abnormal keratinization and acantholysis. The causes of DD are defects in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2). The aim of this study was to report a novel splice-site mutation and to examine the relative quantity expression of ATP2A2 gene in a Chinese family with DD. Polymerase chain reaction (PCR) was carried out to amplify the exons and flanking intron boundaries of the ATP2A2 gene followed by direct sequencing. A novel splice-site mutation (IVS20-6T>A) was found in the family, which was confirmed by creating a novel HinfI (NEB Inc) recognition site and RT-PCR. Real-time quantitative PCR showed approximately 53 and 52% reduction of ATP2A2 expression of the proband and his father, respectively. The results support the proposition that haploinsufficiency is a common mechanism for the dominant inheritance of DD.
Archives for Dermatological Research 12/2010; 302(10):769-72. · 2.28 Impact Factor
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The Journal of Dermatology 12/2010; 37(12):1051-2. · 1.49 Impact Factor
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Journal of dermatological science 06/2010; 58(3):217-8. · 3.71 Impact Factor
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Archives for Dermatological Research 04/2010; 302(3):235-6. · 2.28 Impact Factor
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European journal of dermatology: EJD 07/2009; 19(5):512-3. · 2.53 Impact Factor
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European journal of dermatology: EJD 03/2009; 19(3):270-2. · 2.53 Impact Factor
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ABSTRACT: Human malignant melanoma is notoriously resistant to currently available pharmacological modulation. Our aim was to evaluate the anti-tumor effect of a novel synthetic retinoid 6-[3-(1-adamantyl)-4-hydroxyphenyl]-2-naphthalene carbo-xylic acid (CD437) on melanoma cell line A375. Analysis of cell morphology showed that CD437 promoted marked apoptosis in A375 cells. To explore the mechanisms of CD437-induced apoptosis, an NF-kappaB-luciferase reporter assay was performed, demonstrating that apoptosis induction by CD437 required activation of transcription factor NF-kappaB. Importantly, based on the findings that RIG-I (retinoic acid inducible gene I) can be induced by retinotic acid and can activate NF-kappaB through a CARD-containing adaptor protein VISA, we proposed a hypothesis that RIG-I was involved in the signal pathway of NF-kappaB activation induced by CD437 through the adaptor protein VISA. By specially cleaving VISA with hepatitis C virus (HCV) non-structural (NS)3/4A, the RIG-I pathway was blocked, with subsequent simultaneous inhibition of CD437-induced NF-kappaB activation and cell apoptosis in A375 cells. These results support our hypothesis and suggest that RIG-I may be a useful intermediate biologic marker for retinoid chemoprevention and treatment studies.
Archives for Dermatological Research 11/2008; 301(1):15-20. · 2.28 Impact Factor
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ABSTRACT: To investigate the effect of a novel retinoid CD437 and all-trans retinoic acid (ATRA) in inducing cell apoptosis and inhibiting the proliferation of human epidermoid carcinoma A431 cells and normal human epidermal keratinocytes.
MTT assay was used to determine the inhibitory effects of CD437 and ATRA on the growth of A431 cells and normal human epidermal keratinocytes, and the cell morphological changes were observed microscopically. Flow cytometry was used to investigate the effect of CD437 and ATRA on the cell cycle and apoptosis.
CD437 was more effective than ATRA in inhibiting the proliferation of A431 cells and normal human epidermal keratinocytes. CD437 increased the percentage of sub-G1 populations in A431 cells and induced G1 arrest in normal human epidermal keratinocytes. ATRA appeared to be relatively ineffective for inducing apoptosis in A431 cells as compared to CD437. CD437 did not duce obvious apoptosis in normal human epidermal keratinocytes.
CD437 is more effective than ATRA in inhibiting the proliferation and inducing apoptosis in A431 cells and shows selective apoptosis-inducing effect against malignant keratinocytes, suggesting its potential in the prevention or treatment of cutaneous carcinoma.
Nan fang yi ke da xue xue bao = Journal of Southern Medical University 04/2008; 28(3):305-8.
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ABSTRACT: To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD).
Genomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD.
Three mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations.
All the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 03/2008; 25(1):63-5.
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ABSTRACT: Objective
To study apoptotic effects of synthetic retinoic acid 6-[3-(1-adamantyl)-4-hydroxyphenyl]-2-naphthalene carboxylic acid(AHPN) on human skin malignant melanoma A375 cells in comparison with the natural ligand all-trans-retinoic acid(ATRA) in vitro and the mechanisms related to the actions of AHPN.
Journal of Nanjing Medical University 01/2008; 22(1):18-22.
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Journal of Dermatological Science 12/2007; 48(2):145-7. · 3.72 Impact Factor
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ABSTRACT: Hailey-Hailey disease (HHD; OMIM 169600) is an autosomal dominant blistering disease. Pathogenic mutations in ATP2C1 encoding the human secretory pathway Ca(2+)/Mn(2+)-ATPase protein 1 (hSPCA1) have been identified since 2000. The aim of this study was to report a Chinese pedigree and a sporadic case of HHD and to explore the genetic mutations. The Chinese pedigree and the sporadic case of typical HHD were subjected to mutation detection of ATP2C1. The 27 coding exons and their flanking sequences were amplified and sequenced. The heterozygous C to T transition at nucleotide 2753 in exon 26 and G to T transition at nucleotide 2090 in exon 21 of the ATP2C1 gene were identified in a pedigree and a sporadic case of HHD, respectively. The C2753T transition resulted in a novel nonsense mutation of glutamine codon (CAG) to a stop codon (TAG) at amino acid residue 865 (Q865X) and the G2090T transition resulted in a novel missense mutation of glycine condon (GGA) to Valine (GUA) at amino acid residue 645 (G645V) in hSPCA1. This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the repertoire of ATP2C1 mutations underlying HHD.
Archives for Dermatological Research 08/2007; 299(4):209-11. · 2.28 Impact Factor
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ABSTRACT: To investigate the involvement of E-cadherin-catenin adhesion system in Bowen's disease (BD) and cutaneous squamous cell carcinoma (SCC).
Fifteen normal skin, 28 BD and 18 SCC specimens were stained with monoclonal antibodies against E-cadherin and beta-catenin. Evaluation of the staining results was performed with semi-quantification of the pattern and intensity of staining, percentage of positive cells, and cytoplasmic staining.
Normal skins strongly expressed membranous E-cadherin and beta-catenin, but their expression was remarkably reduced in BD and SCC. Abnormal staining of beta-catenin was observed in the cytoplasm or cell nuclei of BD and SCC.
Abnormal expression of the E-cadherin/catenin complex is common in SCC and BD.
Nan fang yi ke da xue xue bao = Journal of Southern Medical University 09/2006; 26(8):1245-7.
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Journal of Dermatological Science 09/2006; 43(2):143-5. · 3.72 Impact Factor
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ABSTRACT: Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities and caused by mutations in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene.
To identify gene mutations of DSRAD in patients with DSH.
A Chinese pedigree of typical DSH was subjected to mutation detection in DSRAD. Direct sequencing of all PCR products of the whole coding regions of DSRAD was performed to identify the mutation.
A missense mutation 2747G-->T in the DSRAD gene was found in the affected members but not in the healthy individuals in this family and in 50 unrelated controls.
Our study found a novel missense mutation in exon 9 of the DSRAD gene. We add new variants to the knowledge of DSRAD mutations in DSH.
Dermatology 02/2006; 213(3):200-3. · 2.05 Impact Factor
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ABSTRACT: To investigate the gene mutation in two pedigrees with X-linked ichthyosis (XLI) and explore the relationship between the mutation and clinical manifestations.
Genomic DNA of the affected and normal members of the pedigrees and 50 unrelated normal subjects from different regions was extracted with a whole blood genomic DNA extraction kit for use of the template for PCR amplification of exon 1, exon 2 and exon 10 of the steroid sulfatase (STS) gene.
The STS gene was partially deleted in the affected members in the pedigrees with XLI, leaving only exon 1 but not the other exons. The normal member of the pedigree and 50 unrelated normal subjects had no such deletion.
Partial deletion of the STS gene exists in the two pedigrees with XLI, which is responsible for pathological skin changes characteristic of XLI.
Di 1 jun yi da xue xue bao = Academic journal of the first medical college of PLA 09/2005; 25(8):1023-5.
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ABSTRACT: To investigate the gene mutation in a pedigree with X-linked ichthyosis (XLI) and to explore the relationship between the mutation and its clinical manifestations, genomic DNA of affected members, the normal member of the pedigree and 50 unrelated normal members was extracted with a whole blood genomic DNA extraction kit and the DNA was used as a template for the polymerase chain reaction (PCR)-mediated amplification of exon 1 and exon 10 of the STS gene. hHb6 (human hair basic keratin) gene was used as the internal control. Our results showed that the STS gene was deleted in affected members in the pedigree with X-linked ichthyosis. The normal member of the pedigree and 50 unrelated normal members had no such deletion. The proband and his mother had products in the internal control after PCR amplification. The blank control had no product. It is concluded that deletion of the STS gene existed in this pedigree with X-linked ichthyosis, and it is responsible for the unique skin lesions of X-linked ichthyosis.
Journal of Huazhong University of Science and Technology 02/2005; 25(4):468-9. · 0.38 Impact Factor
