Genomes and Genes
Experts and Doctors on genotype in Heidelberg, Baden Württemberg, Germany
Locale: Heidelberg, Baden Württemberg, Germany
Publications183 found, 100 shown here
- Halec G, Holzinger D, Schmitt M, Flechtenmacher C, Dyckhoff G, Lloveras B, et al. Biological evidence for a causal role of HPV16 in a small fraction of laryngeal squamous cell carcinoma. Br J Cancer. 2013;109:172-83 pubmed publisher..Human papillomavirus (HPV) is a causal factor in virtually all cervical and a subset of oropharyngeal squamous cell carcinoma (OP-SCC), whereas its role in laryngeal squamous cell carcinoma (L-SCC) is unclear...
- Maccioni L, Rachakonda P, Bermejo J, Planelles D, Requena C, Hemminki K, et al. Variants at the 9p21 locus and melanoma risk. BMC Cancer. 2013;13:325 pubmed publisher..93 (95% CI 5.34-47.54). Our data confirmed the association of different variants at chromosome 9p21 with melanoma risk and we also found an association of a variant with skin phototypes. ..
- Bermejo J, Kabisch M, Dünnebier T, Schnaidt S, Melchior F, Fischer H, et al. Exploring the association between genetic variation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases. Int J Cancer. 2013;133:362-72 pubmed publisher..The provided information may facilitate the design of independent studies to validate the association between USPL1 rs7984952 and risk of Grade 3 breast tumors. ..
- Dally H, Gassner K, Jäger B, Schmezer P, Spiegelhalder B, Edler L, et al. Myeloperoxidase (MPO) genotype and lung cancer histologic types: the MPO -463 A allele is associated with reduced risk for small cell lung cancer in smokers. Int J Cancer. 2002;102:530-5 pubmed..We confirm that the MPO -463 A variant affords a protective effect against lung cancer risk in smokers, which was strongest for SCLC patients. ..
- RÃ¼thnick D, Neuner A, Dietrich F, Kirrmaier D, Engel U, Knop M, et al. Characterization of spindle pole body duplication reveals a regulatory role for nuclear pore complexes. J Cell Biol. 2017;216:2425-2442 pubmed publisher..After SPB insertion, membrane-associated proteins including the conserved Ndc1 encircle the SPB and retain it within the NE. Thus, uncoupling SPB growth from NE insertion unmasks functions of the duplication machinery. ..
- Scherer D, Nagore E, Bermejo J, Figl A, Botella Estrada R, Thirumaran R, et al. Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations. Int J Cancer. 2009;125:1868-75 pubmed publisher..In conclusion, our data underscored the unambiguous importance of the MC1R variants towards the population burden of melanoma. However, the variants that are associated with the disease differ between the investigated populations. ..
- Secrier M, Pavlopoulos G, Aerts J, Schneider R. Arena3D: visualizing time-driven phenotypic differences in biological systems. BMC Bioinformatics. 2012;13:45 pubmed publisher..Arena3D is available free of charge for academics as a downloadable standalone application from: http://arena3d.org/. ..
- Madan V, Paul D, Lohmann V, Bartenschlager R. Inhibition of HCV replication by cyclophilin antagonists is linked to replication fitness and occurs by inhibition of membranous web formation. Gastroenterology. 2014;146:1361-72.e1-9 pubmed publisher..Cleavage at the NS2/3 junction is a rate-limiting step in replication of particular HCV isolates and determines their sensitivity to CypA inhibitors. These drugs target de novo formation of the membranous web and RNA replication. ..
- Gramer G, Garbade S, Blau N, Lindner M. Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria. J Inherit Metab Dis. 2009;32:52-7 pubmed publisher..Levels of B + P increase significantly with increasing BH(4) doses. There is no correlation between B + P levels and decrease in Phe level. ..
- Schmitt M, Fiedler V, Muller M. Prevalence of BPV genotypes in a German cowshed determined by a novel multiplex BPV genotyping assay. J Virol Methods. 2010;170:67-72 pubmed publisher..In conclusion, BSBP-PCR/MBG is a powerful high-throughput method suitable for the study of the natural history of BPV and could be useful to veterinarians for the monitoring of the efficacy of future BPV vaccines. ..
- Mackensen F, David F, Schwenger V, Smith L, Rajalingam R, Levinson R, et al. HLA-DRB1*0102 is associated with TINU syndrome and bilateral, sudden-onset anterior uveitis but not with interstitial nephritis alone. Br J Ophthalmol. 2011;95:971-5 pubmed publisher..The same allele does not appear to occur in increased frequency in patients with isolated TIN. HLA DRB1*0102 might predispose to this subset of uveitis. ..
- Yang R, Dick M, Marme F, Schneeweiss A, Langheinz A, Hemminki K, et al. Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk. Breast Cancer Res Treat. 2011;127:549-54 pubmed publisher..None of the performed analyses showed statistically significant results. In conclusion, our data suggest that the two genetic variants within miR-126 and miR-335 are not associated with breast cancer risk. ..
- Castro F, Ivansson E, Schmitt M, Juko Pecirep I, Kjellberg L, Hildesheim A, et al. Contribution of TMC6 and TMC8 (EVER1 and EVER2) variants to cervical cancer susceptibility. Int J Cancer. 2012;130:349-55 pubmed publisher..The present data support the involvement of the TMC6/8 region in CxCa susceptibility but further analyses are needed to replicate our findings, fully characterize the region and understand the function of the genetic variants involved. ..
- Rizzato C, Kato I, Plummer M, Munoz N, Stein A, Jan van Doorn L, et al. Risk of advanced gastric precancerous lesions in Helicobacter pylori infected subjects is influenced by ABO blood group and cagA status. Int J Cancer. 2013;133:315-22 pubmed publisher..We showed that SNPs in the ABO gene, predictive of ABO blood groups, are associated with risk of advanced precancerous gastric lesions in individuals infected with Hp, but the assessment of the risk is strictly dependent on cagA status. ..
- Garcia Albeniz X, Rudolph A, Hutter C, White E, Lin Y, Rosse S, et al. CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk. Br J Cancer. 2016;114:221-9 pubmed publisher..The variant is located near CYP24A1, which encodes an enzyme involved in vitamin D metabolism. This novel finding offers additional insight into downstream pathways of CRC etiopathogenesis. ..
- Dally H, Edler L, Jäger B, Schmezer P, Spiegelhalder B, Dienemann H, et al. The CYP3A4*1B allele increases risk for small cell lung cancer: effect of gender and smoking dose. Pharmacogenetics. 2003;13:607-18 pubmed..To confirm our observation that the CYP3A4*1B allele increases SCLC risk and modifies the smoking-related lung cancer risk in a gender-specific manner, further studies, including CYP3A haplotype analysis, will be necessary. ..
- Schmidt C, Hofmann U, Kohlmüller D, Murdter T, Zanger U, Schwab M, et al. Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry. J Inherit Metab Dis. 2005;28:1109-22 pubmed..Sensitive methods and age-related reference ranges enable the detection of partial enzyme deficiencies. ..
- Pechlivanis S, Wagner K, Chang Claude J, Hoffmeister M, Brenner H, Forsti A. Polymorphisms in the insulin like growth factor 1 and IGF binding protein 3 genes and risk of colorectal cancer. Cancer Detect Prev. 2007;31:408-16 pubmed..Nor did the haplotypes of these genes affect the risk of CRC. Our study suggests no major role of the assessed genetic variation within the IGF1 and the IGFBP3 genes in CRC risk. ..
- Schulze A, Schieck A, Ni Y, Mier W, Urban S. Fine mapping of pre-S sequence requirements for hepatitis B virus large envelope protein-mediated receptor interaction. J Virol. 2010;84:1989-2000 pubmed publisher..It requires an N-terminal acyl moiety and a highly conserved sequence that is present in primate but not rodent or avian hepadnaviruses, indicating different entry pathways for the different family members...
- Petridis C, Brook M, Shah V, Kohut K, Gorman P, Caneppele M, et al. Genetic predisposition to ductal carcinoma in situ of the breast. Breast Cancer Res. 2016;18:22 pubmed publisher..0x10(-8). In conclusion, this study provides the strongest evidence to date of a shared genetic susceptibility for IDC and DCIS. Studies with larger numbers of DCIS are needed to determine if IDC or DCIS specific loci exist. ..
- Rappold G, Blum W, Shavrikova E, Crowe B, Roeth R, Quigley C, et al. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet. 2007;44:306-13 pubmed..This study offers a detailed genotype-phenotype analysis in a large cohort of children of short stature, and provides quantitative clinical guidelines for testing of the SHOX gene. ..
- Mutschler J, Abbruzzese E, von der Goltz C, Dinter C, Mobascher A, Thiele H, et al. Genetic variation in the neuropeptide Y gene promoter is associated with increased risk of tobacco smoking. Eur Addict Res. 2012;18:246-52 pubmed publisher..037). Our results provide evidence for an involvement of the functionally relevant SNP rs16147 in the pathophysiology of tobacco dependence. Further studies are needed to confirm our findings. ..
- Pattaro C, Teumer A, Gorski M, Chu A, Li M, Mijatovic V, et al. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun. 2016;7:10023 pubmed publisher..These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways. ..
- Wilkening S, Hemminki K, Rudnai P, Gurzau E, Koppova K, Kumar R, et al. Case-control study in basal cell carcinoma of the skin: single nucleotide polymorphisms in three interleukin promoters pre-analysed in pooled DNA. Br J Dermatol. 2006;155:1139-44 pubmed..84). No significant association was found for IL10-1082 and IL1B-511. The association of SNP IL6-597 with BCC could be found only by individual genotyping, but would have been missed if only data from the pooling analysis had been known. ..
- Timofeeva M, Kropp S, Sauter W, Beckmann L, Rosenberger A, Illig T, et al. Genetic polymorphisms of MPO, GSTT1, GSTM1, GSTP1, EPHX1 and NQO1 as risk factors of early-onset lung cancer. Int J Cancer. 2010;127:1547-61 pubmed publisher..To confirm these observations and to eliminate possible bias in our analyses, larger studies are warranted. ..
- Li H, Rokavec M, Jiang L, Horst D, Hermeking H. Antagonistic Effects of p53 and HIF1A on microRNA-34a Regulation of PPP1R11 and STAT3 and Hypoxia-induced Epithelial to Mesenchymal Transition in Colorectal Cancer Cells. Gastroenterology. 2017;153:505-520 pubmed publisher..Strategies to target this pathway might be developed to inhibit CRC metastasis and overcome resistance to therapy associated with hypoxia. ..
- Frank Raue K, Hoppner W, Frilling A, Kotzerke J, Dralle H, Haase R, et al. Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group. J Clin Endocrinol Metab. 1996;81:1780-3 pubmed
- Dehnert C, Weymann J, Montgomery H, Woods D, Maggiorini M, Scherrer U, et al. No association between high-altitude tolerance and the ACE I/D gene polymorphism. Med Sci Sports Exerc. 2002;34:1928-33 pubmed..We conclude that I/D-ACE gene polymorphism has no important effect on susceptibility to AMS or HAPE. ..
- Merle U, Stremmel W, Gessner R. Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease. Arch Neurol. 2006;63:982-5 pubmed..44). This study shows for the first time, to our knowledge, that the human PrP polymorphism M129V influences the onset of symptoms in patients with the copper storage disorder Wilson disease. ..
- Abbas S, Linseisen J, Slanger T, Kropp S, Mutschelknauss E, Flesch Janys D, et al. The Gc2 allele of the vitamin D binding protein is associated with a decreased postmenopausal breast cancer risk, independent of the vitamin D status. Cancer Epidemiol Biomarkers Prev. 2008;17:1339-43 pubmed publisher..Our results provide evidence for a serum 25(OH)D-independent effect of Gc2 allele carrier status in postmenopausal breast cancer. ..
- Thirumaran R, Bermejo J, Rudnai P, Gurzau E, Koppova K, Goessler W, et al. Single nucleotide polymorphisms in DNA repair genes and basal cell carcinoma of skin. Carcinogenesis. 2006;27:1676-81 pubmed..10-36.8), compared with the genotype TT (XRCC3)/GG (NBS1). The data from this study show overall risk modulation of BCC by variant allele for T241M polymorphism in XRCC3 and gender-specific effect by E185Q polymorphism in NBS1. ..
- Mikus G, Schöwel V, Drzewinska M, Rengelshausen J, Ding R, Riedel K, et al. Potent cytochrome P450 2C19 genotype-related interaction between voriconazole and the cytochrome P450 3A4 inhibitor ritonavir. Clin Pharmacol Ther. 2006;80:126-35 pubmed
- Varadi V, Brendle A, Brandt A, Johansson R, Enquist K, Henriksson R, et al. Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis. Eur J Cancer. 2009;45:3008-16 pubmed publisher..93, 95% CI 1.13-7.58). None of the SNPs showed a significant correlation with survival of the breast cancer patients. With these results, none of the SNPs represents any valuable prognostic marker for BC. ..
- Rizzato C, Campa D, Giese N, Werner J, Rachakonda P, Kumar R, et al. Pancreatic cancer susceptibility loci and their role in survival. PLoS ONE. 2011;6:e27921 pubmed publisher..In conclusion, we found that rs8028529 could be, if these results are replicated, a promising marker for both risk and prognosis for this lethal disease. ..
- Lindner M, Haas D, Mayatepek E, Zschocke J, Burgard P. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Mol Genet Metab. 2001;73:104-6 pubmed..Our results suggest that BH(4) responsiveness in PAH deficiency is at least partly independent from PAH genotype. ..
- Humpert P, Neuwirth R, Battista M, Voronko O, von Eynatten M, Konrade I, et al. SDF-1 genotype influences insulin-dependent mobilization of adult progenitor cells in type 2 diabetes. Diabetes Care. 2005;28:934-6 pubmed
- Frank B, Meyer P, Boettger M, Hemminki K, Stapelmann H, Gast A, et al. ARLTS1 variants and melanoma risk. Int J Cancer. 2006;119:1736-7 pubmed..43, 95% CI = 1.05-1.95, p = 0.02). An additional risk enhancement, though statistically non-significant, was observed in individuals with multiple melanomas (OR = 2.33, 95% CI = 0.87-6.26, p = 0.08). ..
- Schlattl A, Anders S, Waszak S, Huber W, Korbel J. Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions. Genome Res. 2011;21:2004-13 pubmed publisher..Our results suggest that association studies can gain in resolution and power by including fine-scale CNV information, such as those obtained from population-scale sequencing. ..
- Stuehler B, Reichert J, Stremmel W, Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med (Berl). 2004;82:629-34 pubmed..This suggests that GAT/GAC heterozygous state at codon Asn 164 is associated with an earlier onset of disease. ..
- Verrotti A, Crechet J, Di Blasi F, Seidita G, Mirisola M, Kavounis C, et al. RAS residues that are distant from the GDP binding site play a critical role in dissociation factor-stimulated release of GDP. EMBO J. 1992;11:2855-62 pubmed..These findings point to residues 80-82 as important determinants of the response of RAS to GDP dissociation factors. This suggests a molecular model for the enhancement of nucleotide release from RAS by such factors. ..
- Meier S, Demirakca T, Brusniak W, Wolf I, Liebsch K, Tunc Skarka N, et al. SCN1A affects brain structure and the neural activity of the aging brain. Biol Psychiatry. 2012;72:677-83 pubmed publisher..Collectively, the present results suggest that the SCN1A polymorphism has modulatory effects on brain morphology and vulnerability to age-related alterations in brain activity of cortical regions that subserve working memory. ..
- Reichardt H, Schutz G. Feedback control of glucocorticoid production is established during fetal development. Mol Med. 1996;2:735-44 pubmed..GR-dependent regulation of the HPA axis is established during fetal development, suggesting that maternal factors have an important role in influencing the HPA axis of the adult offspring. ..
- Siegsmund M, Brinkmann U, Schäffeler E, Weirich G, Schwab M, Eichelbaum M, et al. Association of the P-glycoprotein transporter MDR1(C3435T) polymorphism with the susceptibility to renal epithelial tumors. J Am Soc Nephrol. 2002;13:1847-54 pubmed..Especially T and TT carriers are at risk for developing non-CCRCC, i.e., papillary and chromophobe RCC as well as oncocytic adenomas. ..
- Wagner S, Kluge B, Koziol J, Grau A, Grond Ginsbach C. MMP-9 polymorphisms are not associated with spontaneous cervical artery dissection. Stroke. 2004;35:e62-4 pubmed..Alleles of these well-characterized functional polymorphisms of MMP-9 gene are not associated with structural alterations in the matrix of vessels of patients with CAD. ..
- Dünnebier T, Bermejo J, Haas S, Fischer H, Pierl C, Justenhoven C, et al. Polymorphisms in the UBC9 and PIAS3 genes of the SUMO-conjugating system and breast cancer risk. Breast Cancer Res Treat. 2010;121:185-94 pubmed publisher..Imputation of polymorphisms in a 300-kb region around the genotyped polymorphisms identified no variants with stronger associations. Our findings suggest that genetic variation in UBC9 may affect the risk of grade 1 breast tumors. ..
- Nieters A, Brems S, Becker N. Cross-sectional study on cytokine polymorphisms, cytokine production after T-cell stimulation and clinical parameters in a random sample of a German population. Hum Genet. 2001;108:241-8 pubmed..If confirmed, these relationships could contribute to a better characterisation of the genetic component of allergies. ..
- Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, et al. Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011;48:741-51 pubmed publisher..The combination of developmental and brain imaging features together with mild facial dysmorphism is highly suggestive of this disorder and should prompt subsequent testing of the CASK gene. ..
- Nieters A, Yuan J, Sun C, Zhang Z, Stoehlmacher J, Govindarajan S, et al. Effect of cytokine genotypes on the hepatitis B virus-hepatocellular carcinoma association. Cancer. 2005;103:740-8 pubmed..0 (95% confidence interval, 1.7-235.0). Diminished cell-mediated immune response, which is controlled genetically, appeared to be an important risk determinant of HBV-related hepatocellular carcinogenesis. ..
- Risch A, Ramroth H, Raedts V, Rajaee Behbahani N, Schmezer P, Bartsch H, et al. Laryngeal cancer risk in Caucasians is associated with alcohol and tobacco consumption but not modified by genetic polymorphisms in class I alcohol dehydrogenases ADH1B and ADH1C, and glutathione-S-transferases GSTM1 and GSTT1. Pharmacogenetics. 2003;13:225-30 pubmed..The lack of risk modification by the studied genotypes emphasizes the importance of environmental exposure to tobacco smoke and alcohol as major risk factors for laryngeal cancer in the German study population. ..
- Lilla C, Risch A, Verla Tebit E, Hoffmeister M, Brenner H, Chang Claude J. SULT1A1 genotype and susceptibility to colorectal cancer. Int J Cancer. 2007;120:201-6 pubmed
- Brasil P, Calvet G, Siqueira A, Wakimoto M, de Sequeira P, Nobre A, et al. Zika Virus Outbreak in Rio de Janeiro, Brazil: Clinical Characterization, Epidemiological and Virological Aspects. PLoS Negl Trop Dis. 2016;10:e0004636 pubmed publisher..The emergence of ZIKV as a new pathogen for Brazil in 2015 underscores the need for clinical vigilance and strong epidemiological and laboratory surveillance. ..
- Clausmeyer S, Hesse V, Clemens P, Engelbach M, Kreuzer M, Becker Rose P, et al. Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. Calcif Tissue Int. 2009;85:211-20 pubmed publisher..We conclude that molecular genetic analysis confirms the clinical diagnosis of XLH and should include sequence analysis as well as the search for large deletions, which is facilitated by MLPA. ..
- Wang H, Madhusudhan T, He T, Hummel B, Schmidt S, Vinnikov I, et al. Low but sustained coagulation activation ameliorates glucose-induced podocyte apoptosis: protective effect of factor V Leiden in diabetic nephropathy. Blood. 2011;117:5231-42 pubmed publisher..These results identify a nephroprotective function of low but sustained thrombin levels in FVL carriers, supporting a dual, context-dependent function of thrombin in chronic diseases. ..
- Grun B, Merkel U, Riedel K, Weiss J, Mikus G. Contribution of CYP2C19 and CYP3A4 to the formation of the active nortilidine from the prodrug tilidine. Br J Clin Pharmacol. 2012;74:854-63 pubmed publisher..The sequential metabolism of tilidine is inhibited by the potent CYP3A4 inhibitor, ritonavir, independent of the CYP2C19 genotype, with a twofold increase in the exposure of the active nortilidine. ..
- Campa D, De Rango F, Carrai M, Crocco P, Montesanto A, Canzian F, et al. Bitter taste receptor polymorphisms and human aging. PLoS ONE. 2012;7:e45232 pubmed publisher..These data provide suggestive evidence on the possible correlation between human longevity and taste genetics. ..
- Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, et al. A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. Hepatology. 2008;48:1157-66 pubmed publisher..Mutational analysis of ABCB4 should be generally considered in all patients with cholestatic liver disease of unknown etiology regardless of age and onset of disease. ..
- Rudofsky G, Schlotterer A, Reismann P, Engel J, Grafe I, Tafel J, et al. The -174G>C IL-6 gene promoter polymorphism and diabetic microvascular complications. Horm Metab Res. 2009;41:308-13 pubmed publisher..In conclusion these data suggest no major influence of the -174G>C variant in the promoter region of the IL-6 gene on the development of microvascular complications in patients with diabetes. ..
- Hoeft B, Linseisen J, Beckmann L, Muller Decker K, Canzian F, Husing A, et al. Polymorphisms in fatty-acid-metabolism-related genes are associated with colorectal cancer risk. Carcinogenesis. 2010;31:466-72 pubmed publisher..Our results support the key role of prostanoid signaling in colon carcinogenesis and suggest a relevance of genetic variation in fatty acid metabolism-related genes and CRC risk. ..
- Chang Claude J, Popanda O, Tan X, Kropp S, Helmbold I, von Fournier D, et al. Association between polymorphisms in the DNA repair genes, XRCC1, APE1, and XPD and acute side effects of radiotherapy in breast cancer patients. Clin Cancer Res. 2005;11:4802-9 pubmed..39; 95% CI, 0.56-3.45; Pinteraction = 0.009). The XRCC1 399Gln or APE1 148Glu alleles may be protective against the development of acute side effects after radiotherapy in patients with normal weight. ..
- Herrmann T, Grone H, Langbein L, Kaiser I, Gosch I, Bennemann U, et al. Disturbed epidermal structure in mice with temporally controlled fatp4 deficiency. J Invest Dermatol. 2005;125:1228-35 pubmed..These changes resemble the histological abnormalities in the epidermis of newborn mice with total Fatp4 deficiency. We conclude that Fatp4 in epidermal keratinocytes is essential for the maintenance of a normal epidermal structure. ..
- Nieters A, Bracci P, de Sanjose S, Becker N, Maynadie M, Benavente Y, et al. A functional TNFRSF5 polymorphism and risk of non-Hodgkin lymphoma, a pooled analysis. Int J Cancer. 2011;128:1481-5 pubmed publisher..6; p for linear trend = 0.002) and follicular lymphoma (OR = 1.6; p for linear trend = 0.001). These data suggest a possible role of this functional polymorphism in lymphomas originating within the germinal center. ..
- Amin Al Olama A, Benlloch S, Antoniou A, Giles G, Severi G, Neal D, et al. Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci. Cancer Epidemiol Biomarkers Prev. 2015;24:1121-9 pubmed publisher..We demonstrate that the risk profiling based on SNPs can identify men at substantially increased or reduced risk that could have useful implications for targeted prevention and screening programs. ..
- Campa D, Sainz J, Pardini B, Vodickova L, Naccarati A, Rudolph A, et al. A comprehensive investigation on common polymorphisms in the MDR1/ABCB1 transporter gene and susceptibility to colorectal cancer. PLoS ONE. 2012;7:e32784 pubmed publisher..In conclusion, in this study of about 8,800 individuals we show that ABCB1 gene polymorphisms play at best a minor role in the susceptibility to CRC. ..
- Hammer C, Cichon S, Mühleisen T, Haenisch B, Degenhardt F, Mattheisen M, et al. Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: a European multicenter study. Transl Psychiatry. 2012;2:e103 pubmed publisher..In conclusion, the present study provides further evidence for the presence of impaired 5-HT(3) receptor function in BPAD. ..
- Pechlivanis S, Bermejo J, Pardini B, Naccarati A, Vodickova L, Novotny J, et al. Genetic variation in adipokine genes and risk of colorectal cancer. Eur J Endocrinol. 2009;160:933-40 pubmed publisher..Our results suggest that variants in the adipokine genes may affect CRC risk in combination with variants in diabetes-related genes. ..
- Weinhold N, Johnson D, Chubb D, Chen B, Forsti A, Hosking F, et al. The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. Nat Genet. 2013;45:522-525 pubmed publisher..870G>A polymorphism (P = 7.96 × 10(-11)). These results provide a model in which a constitutive genetic factor is associated with risk of a specific chromosomal translocation. ..
- Vijai J, Wang Z, Berndt S, Skibola C, Slager S, de Sanjose S, et al. A genome-wide association study of marginal zone lymphoma shows association to the HLA region. Nat Commun. 2015;6:5751 pubmed publisher..95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. This is the first evidence that genetic variation in the major histocompatibility complex influences MZL susceptibility. ..
- Weiss J, Hesse C, Haefeli W. Rapid and reliable genotyping of the C181T polymorphism in the bradykinin B2 receptor gene. Clin Chem Lab Med. 2003;41:281-3 pubmed..It allows the solid evaluation of large patient populations with the best time. ..
- Dietrich L, LaGrassa T, Rohde J, Cristodero M, Meiringer C, Ungermann C. ATP-independent control of Vac8 palmitoylation by a SNARE subcomplex on yeast vacuoles. J Biol Chem. 2005;280:15348-55 pubmed..We speculate that during vacuole fusion, Nyv1 is the classical R-SNARE, whereas the Ykt6-containing complex has a novel function in Vac8 palmitoylation. ..
- Mancera E, Bourgon R, Brozzi A, Huber W, Steinmetz L. High-resolution mapping of meiotic crossovers and non-crossovers in yeast. Nature. 2008;454:479-85 pubmed publisher..In addition, because non-crossover hotspots create holes of reduced linkage within haplotype blocks, our results stress the need to incorporate non-crossovers into genetic linkage analysis...
- McKay J, Hung R, Han Y, Zong X, Carreras Torres R, Christiani D, et al. Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. Nat Genet. 2017;49:1126-1132 pubmed publisher..Other loci include genes such as a cholinergic nicotinic receptor, CHRNA2, and the telomere-related genes OFBC1 and RTEL1. Further exploration of the target genes will continue to provide new insights into the etiology of lung cancer...
- Frank B, Weck M, Muller H, Klopp N, Illig T, Raum E, et al. Polymorphisms in MUC1, MUC2, MUC5B and MUC6 genes are not associated with the risk of chronic atrophic gastritis. Eur J Cancer. 2012;48:114-20 pubmed publisher..None of the analysed SNPs was associated with CAG. However, large studies are needed to disclose or exclude potential weak associations of these SNPs with CAG risk. ..
- Day F, Ruth K, Thompson D, Lunetta K, Pervjakova N, Chasman D, et al. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015;47:1294-1303 pubmed publisher..Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms. ..
- Runz H, Dolle D, Schlitter A, Zschocke J. NPC-db, a Niemann-Pick type C disease gene variation database. Hum Mutat. 2008;29:345-50 pubmed..The user is encouraged to search contents and submit novel information, thereby contributing to generate a valuable open-access tool that will allow a better understanding of the molecular and clinical details of NPC disease. ..
- Obernier K, Simeonova I, Fila T, Mandl C, Hölzl Wenig G, Monaghan Nichols P, et al. Expression of Tlx in both stem cells and transit amplifying progenitors regulates stem cell activation and differentiation in the neonatal lateral subependymal zone. Stem Cells. 2011;29:1415-26 pubmed publisher..Thus, Tlx playing a dual role affects the expression of distinct genes in these two lSEZ cell types. ..
- Campa D, Vodicka P, Pardini B, Novotny J, Forsti A, Hemminki K, et al. Could polymorphisms in ATP-binding cassette C3/multidrug resistance associated protein 3 (ABCC3/MRP3) modify colorectal cancer risk?. Eur J Cancer. 2008;44:854-7 pubmed publisher..We did not find any significant association between the two ABCC3 polymorphisms and colorectal cancer risk. ..
- Baumer A, El Sayed N, Kim T, Reitmeir P, Eickholz P, Pretzl B. Patient-related risk factors for tooth loss in aggressive periodontitis after active periodontal therapy. J Clin Periodontol. 2011;38:347-54 pubmed publisher..Smoking and high mean GBI are associated with an increased risk for recurrence of periodontitis, whereas regular SPT acts as a protective factor. ..
- Butterbach K, Beckmann L, de Sanjose S, Benavente Y, Becker N, Foretova L, et al. Association of JAK-STAT pathway related genes with lymphoma risk: results of a European case-control study (EpiLymph). Br J Haematol. 2011;153:318-33 pubmed publisher..The results implicate a relevant role of certain pathway-related genes in lymphomagenesis, but still need to be approved by independent studies. ..
- Gehrke S, Stremmel W, Mathes I, Riedel H, Bents K, Kallinowski B. Hemochromatosis and transferrin receptor gene polymorphisms in chronic hepatitis C: impact on iron status, liver injury and HCV genotype. J Mol Med (Berl). 2003;81:780-7 pubmed..8 for HCV-infected patients with C282Y/H63D and C282Y/S65C compound heterozygosity. Heterozygosity for the C282Y mutation in HFE contributes to iron accumulation and fibrosis progression in chronic hepatitis C. ..
- Chang Claude J, Dunning A, Schnitzbauer U, Galmbacher P, Tee L, Wjst M, et al. The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk. Int J Cancer. 2003;103:779-83 pubmed
- Wulff P, Goetz T, Leppä E, Linden A, Renzi M, Swinny J, et al. From synapse to behavior: rapid modulation of defined neuronal types with engineered GABAA receptors. Nat Neurosci. 2007;10:923-9 pubmed..This combined molecular and pharmacological technique has demonstrable advantages over targeted cell ablation and will be invaluable for investigating many neuronal circuits. ..
- Merle U, Weiss K, Eisenbach C, Tuma S, Ferenci P, Stremmel W. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. BMC Gastroenterol. 2010;10:8 pubmed publisher..Measurement of serum ceruloplasmin oxidase might help to predict presence of truncating ATP7B mutations and might facilitate the mutation analysis. ..
- Gast A, Bermejo J, Flohr T, Stanulla M, Burwinkel B, Schrappe M, et al. Folate metabolic gene polymorphisms and childhood acute lymphoblastic leukemia: a case-control study. Leukemia. 2007;21:320-5 pubmed..03). Our results suggest that, besides a weak association of childhood ALL with the 66A>G polymorphism, haplotypes within the MTRR gene may, in part, account for population-based differences in risk. ..
- Nedelko T, Arlt V, Phillips D, Hollstein M. TP53 mutation signature supports involvement of aristolochic acid in the aetiology of endemic nephropathy-associated tumours. Int J Cancer. 2009;124:987-90 pubmed publisher..This concordance of specific mutations in patient tumours and aristolochic acid I-exposed cultures supports the argument that AA has a direct role in the aetiology of BEN-associated cancer. ..
- Seibold P, Hall P, Schoof N, Nevanlinna H, Heikkinen T, Benner A, et al. Polymorphisms in oxidative stress-related genes and mortality in breast cancer patients--potential differential effects by radiotherapy?. Breast. 2013;22:817-23 pubmed publisher..00-1.35, p = 0.056, HRPRDX6_rs4916362 1.14 95% CI 1.00-1.32, p = 0.062). Potential effect modification by radiotherapy was found for CAT_rs769218. In conclusion, genetic variants in NQO1 and PRDX6 may modify breast cancer prognosis. ..
- Verla Tebit E, Wang Gohrke S, Chang Claude J. CYP17 5'-UTR MspA1 polymorphism and the risk of premenopausal breast cancer in a German population-based case-control study. Breast Cancer Res. 2005;7:R455-64 pubmed..The finding, however, needs to be confirmed in further studies. ..