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| 1 | Postpartum depression:A systematic review of the genetics involved显示文摘Postpartum depression is one of the most prevalent psychopathologies. Its prevalence is estimated to be between 10% and 15%. Despite its multifactorial etiology, it is known that genetics play an important role in the genesis of this disorder. This paper reviews epidemiological evidence supporting the role of genetics in postpartum depression(PPD). The main objectives of this review are to determine which genes and polymorphisms are associated with PPD and discuss how this association may occur. In addition, this paper explores whether these genes are somehow related to or even the same as those linked to Major Depression(MD). To identify gaps in the current knowledge that require investigation, a systematic review was conducted in the electronic databases Pub Med, LILACS and Sci ELO using the index terms 'postpartum depression' and 'genetics'. Literature searches for articles in peerreviewed journals were made until April 2014. PPD was indexed 56 times with genetics. The inclusion criteria were articles in Portuguese, Spanish or English that were available by institutional means or sent by authors upon request; this search resulted in 20 papers. Genes and polymorphisms traditionally related to MD, which are those involved in the serotonin, catecholamine, brain-derived neurotrophic factor and tryptophan metabolism, have been the most studied, and some have been related to PPD. The results are conflicting and some depend on epigenetics, which makes the data incipient. Further studies are required to determine the genes that are involved in PPD and establish the nature of the relationship between these genes and PPD. | Tiago Castro e Couto Mayra Yara Martins Brancaglion António Alvim-Soares Lafaiete Moreira Frederico Duarte Garcia Rodrigo Nicolato Humberto Corrêa Regina Amélia Lopes P Aguiar Henrique Vitor Leite | 2015 | World Journal of Psychiatry2015，5，1： | 5 |
| 2 | Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation显示文摘AIM To investigate the relation of two different mutations to the outcome of partial external biliary diversion(PEBD)in severe bile salt export pump(BSEP) deficiency.METHODS Mutations in the gene encoding BSEP leading to severe BSEP deficiency in two unrelated patients were identified by genomic sequencing. Native liver biopsies and transiently transfected human embryonic kidney(HEK) 293 cells expressing either wild-type or mutated BSEP were subjected to immunofluorescence analysis to assess BSEP transporter localization. Bile acid profiles of patient and control bile samples were generated by ultra-performance liquid chromatographytandem mass spectrometry. Wild-type and mutant BSEP transport of [~3H]-labeled taurocholate(TC) and taurochenodeoxycholate(TCDC) was assessed by vesicular transport assays.RESULTS A girl(at 2 mo) presented with pruritus, jaundice and elevated serum bile salts(BS). PEBD stabilized liver function and prevented liver transplantation. She was heterozygous for the BSEP deletion p.T919 del and the nonsense mutation p.R1235 X. At the age of 17 years relative amounts of conjugated BS in her bile were normal, while total BS were less than 3% as compared to controls. An unrelated boy(age 1.5 years) presenting with severe pruritus and elevated serum BS was heterozygous for the same nonsense and another missense mutation, p.G1032 R. PEBD failed to alleviate pruritus, eventually necessitating liver transplantation. BS concentration in bile was about 5% of controls. BS were mainly unconjugated with an unusual low amount of chenodeoxycholate derivatives(< 5%). The patients' native liver biopsies showed canalicular BSEP expression. Both BSEP p.T919 del and p.G1032 R were localized in the plasma membrane in HEK293 cells. In vitro transport assays showed drastic reduction of transport by both mutations. Using purified recombinant BSEP as quantifiable reference, per-molecule transport rates for TC and TCDC were determined to be 3 and 2 BS molecules per wild-type BSEP transporter per minute, respectively.CONCLUSION In summary, our findings suggest that residual function of BSEP as well as substrate specificity influence the therapeutic effectiveness of PEBD in progressive familial intrahepatic cholestasis type 2(PFIC-2). | Philipp Ellinger Jan Stindt Carola Droge Katharina Sattler Claudia Stross Stefanie Kluge Diran Herebian Sander HJ Smits Martin Burdelski Sebastian Schulz-Jürgensen Antje Ballauff Jan Schulte am Esch Ertan Mayatepek Dieter Haussinger Ralf Kubitz Lutz Schmitt | 2017 | World Journal of Gastroenterology2017，23，29： | 4 |
| 3 | Virus - induced gene silencing in plants 显示文摘 | Lu R Martin - Hemandez AM Peart JR | 2003 | Methods2003，30，： | 1 |
| 4 | Development of monoclonal antibodies specific for strawberry milo yellow edge potexvirus显示文摘 | Quail AM Martin RR Spiegel S | 1995 | Acta Horticulturae1995，385，： | 1 |
| 5 | Leukocyte Ig-like receptor complex (LRC) in mice and men显示文摘 | Martin AM Kulski JK Witt C | 2002 | Trend Immunol2002，23，2： | 1 |
| 6 | Detection and quantitation of HER-2 gene amplification and protein expression in breast carcinoma显示文摘 | Bofin AM Ytterhus B Martin C | 2004 | Am J Clin Pathol2004，122，1： | 1 |
| 7 | Peripheral transcather embolization with platinum microcoils显示文摘 | Kaufman SL Martin LG Zuckerman AM | 1992 | Radiology1992，184，： | 1 |
| 8 | Increased implantation and pregnancy rates obtained by placing the tip of the transfer catheter in the central area of the endometrial cavity 显示文摘 | Oliveira JB Martins AM Baruffi RL | 2004 | Reprod Biomed Online2004，9，4： | 1 |
| 9 | Predisposition to abacavir hypersensitivity con- ferred by HLA-B * 5701 and a haplotypic Hsp70-Hom variant显示文摘 | Martin AM | 2004 | Proc Natl Acad Sci USA2004，101，12： | 1 |
| 10 | Indapamide(Natrilix):The agent of choice in the trentment of recurrent renal calculi associated with idiopathic hypercalciuria显示文摘 | MC Martins AM Meyers NA Whalley | 1996 | Br J Urol1996，78，2： | 1 |
| 11 | Epidemiology and cost of herpes zoster and postherpetic neu? ralgia among patients treated in primary care centres in the valen? cian community of Spain显示文摘 | Cebrian - Cuenca AM Diez - Domingo J San - Martin - Ro- driguez M | 2011 | BMC Intect Dis2011，11，5： | 1 |
| 12 | Evolution of treatments for patients with acute lung injury显示文摘 | Esper AM Martin GS | 2005 | Expert Opin Investig Drugs2005，14，5： | 1 |
| 13 | Formation of Strecker aldehydes and pyrazines in a fried potato model system显示文摘 | Martin F L Ames J A | 2001 | J Agri Food Chem2001，49，8： | 1 |
| 14 | Self care and health-seeking behavior of migrant farmworkers显示文摘 | Anthony MJ Martin EG Avery AM | 2010 | J Immigr Minor Hcahh2010，12，5： | 1 |
| 15 | Coordinate regulation of the expression of the fatty acid transport protein and acyl-CoA synthetase genes by PPAR alpha and PPAR gamma activators显示文摘 | MARTIN G SCHOONJANS K LEFEBVRE AM | 1997 | Journal of Biology Chemistry1997，272，28： | 1 |
| 16 | Bond strength and micro morphology of a self-etching primer versus a standard adhesive system with varying etching times in primary teeth 显示文摘 | Boj JR Martin AM Espasa E | 2004 | Eur J Paediatr Dent2004，5，4： | 1 |
| 17 | Prediction and outcomes of impossible mask ventilation: a review of 50,000 anesthetics 显示文摘 | Kheterpal S Martin L Shanks AM | 2009 | Anesthesiology2009，110，4： | 1 |
| 18 | Increased fetal DNA in the maternal circulation in early pregnancy is associated with an increased risk of preeclampsia 显示文摘 | Cotter AM Martin CM Oleary JJ | 2004 | Am J Obstet Gynecol2004，191，2： | 1 |
| 19 | Sarcomatoid carcinoma of the lung: a predictor of s显示文摘 | Martin LW Correa AM Ordonez NG | 2007 | Ann Thorac Surg2007，84，： | 1 |
| 20 | Using the spine surgical invasiveness index to identify risk of surgical site infection:a multivariate analysis显示文摘 | Cizik AM Lee MJ Martin BI | 2012 | J Bone Joint Surg Am2012，94，4： | 1 |
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