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BMC Med Genet ; 19(1): 186, 2018 10 17.
Artigo em Inglês | MEDLINE | ID: mdl-30333007


BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), the commonest inherited kidney disease, is generally caused by heterozygous mutations in PKD1, PKD2, or GANAB (PKD3). METHODS: We performed mutational analyses of PKD genes to identify causative mutations. A set of 90 unrelated families with ADPKD were subjected to mutational analyses of PKD genes. Genes were analysed using long-range PCR (LR-PCR), direct PCR sequencing, followed by multiplex ligation-dependent probe amplification (MLPA) or screening of GANAB for some patients. Semen quality was assessed for 46 male patients, and the correlation between mutations and male infertility was analysed. RESULTS: A total of 76 mutations, including 38 novel mutations, were identified in 77 families, comprising 72 mutations in PKD1 and 4 in PKD2, with a positive detection rate of 85.6%. No pathogenic mutations of GANAB were detected. Thirty-seven patients had low semen quality and were likely to be infertile. No association was detected between PKD1 mutation type and semen quality. However, male patients carrying a pathogenic mutation in the Ig-like repeat domain of PKD1 had a high risk of infertility. CONCLUSION: Our study identified a group of novel mutations in PKD genes, which enrich the PKD mutation spectrum and might help clinicians to make precise diagnoses, thereby allowing better family planning and genetic counselling. Men with ADPKD accompanied by infertility should consider intracytoplasmic sperm injection combined with preimplantation genetic diagnosis to achieve paternity and obtain healthy progeny.

Predisposição Genética para Doença , Infertilidade Masculina/genética , Mutação , Rim Policístico Autossômico Dominante/genética , Canais de Cátion TRPP/genética , Adulto , Grupo com Ancestrais do Continente Asiático , Análise Mutacional de DNA , Feminino , Expressão Gênica , Aconselhamento Genético , Glucosidases/genética , Humanos , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/etnologia , Infertilidade Masculina/patologia , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , Aceitação pelo Paciente de Cuidados de Saúde , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/etnologia , Rim Policístico Autossômico Dominante/patologia , Técnicas de Reprodução Assistida , Análise do Sêmen
Int J Biol Macromol ; 81: 785-93, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26361865


A novel laccase was purified from fermentation broth of white rot fungus Trametes sp. LAC-01 using an isolation procedure involving three ion-exchange chromatography steps on DEAE-cellulose, SP-Sepharose, and Q-Sepharose, and one gel-filtration step. The purified enzyme (TSL) was proved as a monomeric protein with a Mr of 59kDa based on SDS-PAGE and FPLC. Partial amino acid sequences were obtained by LC-MS/MS sharing considerably high sequence similarity with that of other laccases. It possessed optimal pH of 2.6 and temperature of 60°C using ABTS as the substrate. The Km of the laccase toward ABTS was estimated to 30.28µM at pH 2.6 and 40°C. TSL manifested considerably high oxidizing activity toward ABTS, but was avoid of degradative activity toward benzidine, caftaric acid, etc. It was effective in the decolorization of phenolic dyes - Bromothymol Blue and Malachite Green with decolorization rate higher than 60% after 24h of incubation. Adjunction of Cu(2+) with the final concentration of 2.0mmol/L significantly activated laccase production with a steady high level of 275.8-282.2U/mL in 96-144h. The high yield and short production period makes Trametes sp. LAC-01 and TSL potentially useful for industrial and environmental application and commercialization.

Corantes/química , Fungos/enzimologia , Lacase/química , Cromatografia Líquida , Cobre/química , DNA Intergênico , Ativação Enzimática , Estabilidade Enzimática , Fermentação , Fungos/classificação , Fungos/genética , Concentração de Íons de Hidrogênio , Cinética , Lacase/biossíntese , Lacase/isolamento & purificação , Peso Molecular , Filogenia , Especificidade por Substrato , Espectrometria de Massas em Tandem , Temperatura , Trametes/classificação , Trametes/enzimologia , Trametes/genética
Acta Crystallogr C Struct Chem ; 70(Pt 3): 289-91, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24594719


A new inorganic-organic hybrid zinc phosphite, [Zn(HPO3)(C6H11NO2)]n, has been synthesized hydrothermally. Protonated piperidin-1-ium-4-carboxylate (PDCA) was generated in situ by hydrolysis of the piperidine-4-carboxamide precursor. The P atom possesses a typical PO3H pseudo-pyramidal geometry. The crystal structure features an unusual (3,4)-connected two-dimensional inorganic zinc-phosphite layer, with organic PDCA ligands appended to the sheets and protruding into the interlayer region. Helical chains of opposite chirality are involved in the construction of a puckered sheet structure.

Acta Pharmacol Sin ; 34(9): 1192-200, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23685957


AIM: To investigate the effects of curcumin on proliferation and apoptosis in testicular cancer cells in vitro and to investigate its molecular mechanisms of action. METHODS: NTera-2 human malignant testicular germ cell line and F9 mouse teratocarcinoma stem cell line were used. The anti-proliferative effect was examined using MTT and colony formation assays. Hoechst 33258 staining, TUNEL and Annexin V-FITC/PI staining assays were used to analyze cell apoptosis. Protein expression was examined with Western blot analysis and immunocytochemical staining. RESULTS: Curcumin (5, 10 and 15 µmol/L) inhibited the viability of NTera-2 cells in dose- and time-dependent manners. Curcumin significantly inhibited the colony formation in both NTera-2 and F9 cells. Curcumin dose-dependently induced apoptosis of NTera-2 cells by reducing FasL expression and Bcl-2-to-Bax ratio, and activating caspase-9, -8 and -3. Furthermore, curcumin dose-dependently reduced the expression of AP transcription factor AP-2γ in NTera-2 cells, whereas the pretreatment with the proteasome inhibitor MG132 blocked both the curcumin-induced reduction of AP-2γ and antiproliferative effect. Curcumin inhibited ErbB2 expression, and decreased the phosphorylation of Akt and ERK in NTera-2 cells. CONCLUSION: Curcumin induces apoptosis and inhibits proliferation in NTera-2 cells via the inhibition of AP-2γ-mediated downstream cell survival signaling pathways.

Antineoplásicos/farmacologia , Apoptose/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Curcumina/farmacologia , Neoplasias Embrionárias de Células Germinativas , Neoplasias Testiculares , Fator de Transcrição AP-2/antagonistas & inibidores , Fator de Transcrição AP-2/farmacologia , Animais , Antineoplásicos/uso terapêutico , Apoptose/fisiologia , Curcumina/uso terapêutico , Humanos , Camundongos , Neoplasias Embrionárias de Células Germinativas/tratamento farmacológico , Neoplasias Embrionárias de Células Germinativas/patologia , Neoplasias Testiculares/tratamento farmacológico , Neoplasias Testiculares/patologia