Genomes and Genes
Experts and Doctors on genotype in Germany
Publications710 found, 100 shown here
- Grisk O, Steinbach A, Ciecholewski S, Schlüter T, Kloting I, Schmidt H, et al. Multidrug resistance-related protein 2 genotype of the donor affects kidney graft function. Pharmacogenet Genomics. 2009;19:276-88 pubmed publisher..This suggests that MRP2 is a determinant of the redox status in tubular epithelial cells and thus of the susceptibility to renal damage under conditions of treatment with multiple drugs and increased oxygen radical formation. ..
- Scholz M, Ruge Wehling B, Habekuss A, Schrader O, Pendinen G, Fischer K, et al. Ryd4 (Hb): a novel resistance gene introgressed from Hordeum bulbosum into barley and conferring complete and dominant resistance to the barley yellow dwarf virus. Theor Appl Genet. 2009;119:837-49 pubmed publisher..The identity and effect of Ryd4 ( Hb ) are discussed in relation to other known genes for BYDV resistance or tolerance, as well as the relevance of this gene for resistance breeding in barley. ..
- Stubbusch J, Majdazari A, Schmidt M, Schutz G, Deller T, Rohrer H. Generation of the tamoxifen-inducible DBH-Cre transgenic mouse line DBH-CT. Genesis. 2011;49:935-41 pubmed publisher..Thus, this transgenic mouse line represents a valuable tool to study gene function in mature noradrenergic neurons by conditional inactivation. ..
- 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. ..
- Harbers K, Muller U, Grams A, Li E, Jaenisch R, Franz T. Provirus integration into a gene encoding a ubiquitin-conjugating enzyme results in a placental defect and embryonic lethality. Proc Natl Acad Sci U S A. 1996;93:12412-7 pubmed..Its recessive-lethal phenotype demonstrates that the ubiquitin system plays an essential role during mouse development. ..
- Maruyama M, Lam K, Rajewsky K. Memory B-cell persistence is independent of persisting immunizing antigen. Nature. 2000;407:636-42 pubmed
- Kuhn C, Bennewitz J, Reinsch N, Xu N, Thomsen H, Looft C, et al. Quantitative trait loci mapping of functional traits in the German Holstein cattle population. J Dairy Sci. 2003;86:360-8 pubmed..Prior to implementation of these QTL in marker assisted selection programs for functional traits, information about direct and correlated effects of these QTL as well as fine mapping of their chromosomal positions is required. ..
- Meissner B, Boll M, Daniel H, Baumeister R. Deletion of the intestinal peptide transporter affects insulin and TOR signaling in Caenorhabditis elegans. J Biol Chem. 2004;279:36739-45 pubmed
- Buitkamp J, Semmer J. A robust, low- to medium-throughput prnp genotyping system in sheep. BMC Infect Dis. 2004;4:30 pubmed..It can be implemented by most molecular genetic laboratories using standard equipment. ..
- Illig T, Bongardt F, Schopfer A, Müller Scholze S, Rathmann W, Koenig W, et al. Significant association of the interleukin-6 gene polymorphisms C-174G and A-598G with type 2 diabetes. J Clin Endocrinol Metab. 2004;89:5053-8 pubmed
- Schmitz C, Kinner A, Kölling R. The deubiquitinating enzyme Ubp1 affects sorting of the ATP-binding cassette-transporter Ste6 in the endocytic pathway. Mol Biol Cell. 2005;16:1319-29 pubmed..On Ubp1 overexpression, Ste6 accumulates at the cell surface, which is consistent with a role of Ubp1 at the internalization step of endocytosis or with enhanced recycling to the cell surface from an internal compartment...
- Brockmeyer N, Potthoff A, Kasper A, Nabring C, Jockel K, Siffert W. GNB3 C825T polymorphism and response to anti-retroviral combination therapy in HIV-1-infected patients--a pilot study. Eur J Med Res. 2005;10:489-94 pubmed..Still cells from TT genotypes displayed strongest chemotaxis. This pilot study suggests that the GNB3 C825T polymorphism is associated with short-term success of HAART treatment in HIV-1-infected patients. ..
- Mellmann A, Lu S, Karch H, Xu J, Harmsen D, Schmidt M, et al. Recycling of Shiga toxin 2 genes in sorbitol-fermenting enterohemorrhagic Escherichia coli O157:NM. Appl Environ Microbiol. 2008;74:67-72 pubmed..The ability to recycle stx(2), a critical virulence trait, makes SF E. coli O157:NM strains ephemeral EHEC that can exist as stx-negative variants during certain phases of their life cycle. ..
- Li Y, Pabst S, Lokhande S, Grohe C, Wollnik B. Extended genetic analysis of BTNL2 in sarcoidosis. Tissue Antigens. 2009;73:59-61 pubmed publisher..450delC. We genotyped 210 patients and 201 controls for c.450delC and observed similar genotype frequencies in both groups without a significant difference (P = 0.4996). ..
- Karakas M, Hoffmann M, Vollmert C, Rothenbacher D, Meisinger C, Winkelmann B, et al. Genetic variation in Fc gamma receptor IIa and risk of coronary heart disease: negative results from two large independent populations. BMC Med Genet. 2009;10:46 pubmed publisher..08; 95% confidence interval (CI) 0.81 to 1.44), nor in LURIC (OR 0.96; 95% CI 0.81 to 1.14). Our results do not confirm an independent relationship between Fc gamma RIIa genotypes and risk of CHD in these populations. ..
- Jagasia R, Steib K, Englberger E, Herold S, Faus Kessler T, Saxe M, et al. GABA-cAMP response element-binding protein signaling regulates maturation and survival of newly generated neurons in the adult hippocampus. J Neurosci. 2009;29:7966-77 pubmed publisher..These results indicate that CREB signaling is a central pathway in adult hippocampal neurogenesis, regulating the development and survival of new hippocampal neurons downstream of GABA-mediated excitation. ..
- Spangler G, Johann M, Ronai Z, Zimmermann P. Genetic and environmental influence on attachment disorganization. J Child Psychol Psychiatry. 2009;50:952-61 pubmed..Different pathways of the development of attachment disorganization are discussed based on a bio-behavioral model of development. ..
- Wersching H, Guske K, Hasenkamp S, Hagedorn C, Schiwek S, Jansen S, et al. Impact of common KIBRA allele on human cognitive functions. Neuropsychopharmacology. 2011;36:1296-304 pubmed publisher..500, p=0.0072 and 0.029 after Bonferroni correction). The effect of KIBRA on cognitive function seems to be complex and modified by gender and arterial hypertension. ..
- Muraya M, Mutegi E, Geiger H, de Villiers S, Sagnard F, Kanyenji B, et al. Wild sorghum from different eco-geographic regions of Kenya display a mixed mating system. Theor Appl Genet. 2011;122:1631-9 pubmed publisher..The genetic structure of the populations studied is concordant with that expected for a species displaying mixed mating system...
- Stallmeyer B, Koopmann M, Schulze Bahr E. Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy. Genet Test Mol Biomarkers. 2012;16:543-9 pubmed publisher..The cardiac phenotype of the affected family members was severe and progressive with age, indicating the necessity for a genetic testing for LMNA mutations in patients with familial DCM and early onset of conduction disorders. ..
- Sims R, van der Lee S, Naj A, Bellenguez C, Badarinarayan N, Jakobsdottir J, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017;49:1373-1384 pubmed publisher..These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease. ..
- Hummel T, Schimmelpfeng K, Klämbt C. Commissure formation in the embryonic CNS of Drosophila. Dev Biol. 1999;209:381-98 pubmed..Over 20 genes appear to be required for correct development of the midline glial cells which are necessary for the formation of distinct segmental commissures. ..
- Holter K, Wermter A, Scherag A, Siegfried W, Goldschmidt H, Hebebrand J, et al. Analysis of sequence variations in the suppressor of cytokine signaling (SOCS)-3 gene in extremely obese children and adolescents. BMC Med Genet. 2007;8:21 pubmed..The PDT revealed no transmission disequilibrium (nominal p > 0.05). In conclusion, our data do not suggest evidence for a major role of the respective SNPs in SOCS3 in the pathogenesis of extreme obesity in our study groups. ..
- Schmitt Graeff A, Teo S, Olschewski M, Schaub F, Haxelmans S, Kirn A, et al. JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Haematologica. 2008;93:34-40 pubmed publisher..The prevalence of homozygous JAK2-V617F mutation in RARS-T suggests that this entity is biologically distinct from essential thrombocythemia. ..
- Schule R, Kremer B, Kassubek J, Auer Grumbach M, Kostic V, Klopstock T, et al. SPG10 is a rare cause of spastic paraplegia in European families. J Neurol Neurosurg Psychiatry. 2008;79:584-7 pubmed publisher..All mutations affect the motor domain of kinesin and thus most likely impair axonal transport. Clinically, SPG10 is characterised by spastic paraplegia with mostly subclinical peripheral neuropathy. ..
- Mesaros A, Koralov S, Rother E, Wunderlich F, Ernst M, Barsh G, et al. Activation of Stat3 signaling in AgRP neurons promotes locomotor activity. Cell Metab. 2008;7:236-48 pubmed publisher..These data demonstrate that Stat3-dependent signaling in AgRP neurons in the ARC controls locomotor activity independently of AgRP regulation. ..
- Noack B, Görgens H, Lorenz K, Ziegler A, Hoffmann T, Schackert H. TLR4 and IL-18 gene variants in aggressive periodontitis. J Clin Periodontol. 2008;35:1020-6 pubmed publisher..41, 95% CI: 0.43-4.70). Our results reject the hypothesis that functionally relevant IL-18 and TLR4 gene mutations have a major effect on aggressive periodontitis susceptibility alone or in combination. ..
- Chen C, Weidinger S, Klopp N, Sausenthaler S, Bischof W, Herbarth O, et al. Common variants in FCER1A influence total serum IgE levels from cord blood up to six years of life. Allergy. 2009;64:1327-32 pubmed publisher..Common variants in FCER1A strongly influence basal IgE production independently from environmental stimuli. These effects can be observed already in cord blood pointing to altered gene expression in foetus. ..
- Clavel T, Charrier C, Braune A, Wenning M, Blaut M, Haller D. Isolation of bacteria from the ileal mucosa of TNFdeltaARE mice and description of Enterorhabdus mucosicola gen. nov., sp. nov. Int J Syst Evol Microbiol. 2009;59:1805-12 pubmed publisher..nov., sp. nov., to accommodate strain Mt1B8(T). The type strain of Enterorhabdus mucosicola is Mt1B8(T) (=DSM 19490(T) =CCUG 54980(T))...
- Kreuter A, Potthoff A, Brockmeyer N, Gambichler T, Swoboda J, Stucker M, et al. Anal carcinoma in human immunodeficiency virus-positive men: results of a prospective study from Germany. Br J Dermatol. 2010;162:1269-77 pubmed publisher..There is a paucity of data published on the progression of high-grade AIN to invasive cancer as well as on clinical and virological characteristics comparing anal margin and anal canal carcinoma...
- Spiekerkoetter U. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. J Inherit Metab Dis. 2010;33:527-32 pubmed publisher..However, later-onset exercise-induced myopathic symptoms remain characteristic clinical features of long-chain fatty acid oxidation defects. Disease prevalence has increased with newborn screening. ..
- Perrier E, Pompei F, Ruberto G, Vassos E, Collier D, Frangou S. Initial evidence for the role of CACNA1C on subcortical brain morphology in patients with bipolar disorder. Eur Psychiatry. 2011;26:135-7 pubmed publisher..The CACNA1C rs1006737 polymorphism influences anatomical variation within subcortical regions involved in emotional processing. ..
- Czira M, Wersching H, Baune B, Berger K. Brain-derived neurotrophic factor gene polymorphisms, neurotransmitter levels, and depressive symptoms in an elderly population. Age (Dordr). 2012;34:1529-41 pubmed publisher..We moreover first-time report a missing mediating role of neurotransmitters in this association. ..
- Welsch C, Jesudian A, Zeuzem S, Jacobson I. New direct-acting antiviral agents for the treatment of hepatitis C virus infection and perspectives. Gut. 2012;61 Suppl 1:i36-46 pubmed publisher..The novel agents in clinical development are paving the way for future interferon-sparing regimens. ..
- Higgins P, Janssen K, Fresen M, Wisplinghoff H, Seifert H. Molecular epidemiology of Acinetobacter baumannii bloodstream isolates obtained in the United States from 1995 to 2004 using rep-PCR and multilocus sequence typing. J Clin Microbiol. 2012;50:3493-500 pubmed publisher..baumannii lineages in the United States, particularly IC 2. The presence in the United States of A. baumannii ICs 1, 2, and 3 from as early as 1995 suggests that global dissemination of these lineages was an early event...
- Maetzler W, Tian Y, Baur S, Gauger T, Odoj B, Schmid B, et al. Serum and cerebrospinal fluid levels of transthyretin in Lewy body disorders with and without dementia. PLoS ONE. 2012;7:e48042 pubmed publisher..These results suggest an involvement of the clearance protein TTR in LBD pathophysiology, and should motivate to elucidate TTR-related mechanisms in LBD in more detail. ..
- Neumann Fraune M, Beggel B, Pfister H, Kaiser R, Verheyen J. High frequency of complex mutational patterns in lamivudine resistant hepatitis B virus isolates. J Med Virol. 2013;85:775-9 pubmed publisher..HBV genotypic resistance tests based on population sequencing methods seemed to be inappropriate for determining the clinical relevance of stop codons in the HBsAg...
- Stoll G, PietilÃ¤inen O, Linder B, Suvisaari J, Brosi C, Hennah W, et al. Deletion of TOP3Î², a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders. Nat Neurosci. 2013;16:1228-1237 pubmed publisher..Our results indicate a previously unknown role for TOP3Î² in mRNA metabolism and suggest that it is involved in neurodevelopmental disorders. ..
- Rau W, Just W, Vetter U, Vogel W. A dinucleotide repeat in the mouse biglycan gene (EST) on the X chromosome. Mamm Genome. 1994;5:395-6 pubmed
- Hebinck J, Hardt C, Schols L, Vorgerd M, Briedigkeit L, Kahn C, et al. Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans. Diabetes. 2000;49:1604-7 pubmed..In conclusion, a heterozygous expansion of the X25/frataxin GAA repeat in healthy individuals is associated with insulin resistance and might be considered a genetic co-factor in the pathogenesis of mitochondrial subtypes of diabetes. ..
- Auge H, Neuffer B, Erlinghagen F, Grupe R, Brandl R. Demographic and random amplified polymorphic DNA analyses reveal high levels of genetic diversity in a clonal violet. Mol Ecol. 2001;10:1811-9 pubmed..Although Viola riviniana is a clonal plant, traits associated with sexual reproduction rather than clonality per se are moulding the pattern of genetic variation in this species...
- Ivandic B, Utz H, Kaczmarek P, Aherrahrou Z, Axtner S, Klepsch C, et al. New Dyscalc loci for myocardial cell necrosis and calcification (dystrophic cardiac calcinosis) in mice. Physiol Genomics. 2001;6:137-44 pubmed..Additive epistasis between Dyscalc1 and Dyscalc2 enhanced DCC. Examining recombinant inbred strains, we propose a 10-cM interval containing Dyscalc1 and discuss potential candidate genes...
- Bange J, Prechtl D, Cheburkin Y, Specht K, Harbeck N, Schmitt M, et al. Cancer progression and tumor cell motility are associated with the FGFR4 Arg(388) allele. Cancer Res. 2002;62:840-7 pubmed..Our results support the conclusion that the FGFR4 Arg(388) allele represents a determinant that is innocuous in healthy individuals but predisposes cancer patients for significantly accelerated disease progression. ..
- Koch W, Kastrati A, Mehilli J, von Beckerath N, Schomig A. CD14 gene -159C/T polymorphism is not associated with coronary artery disease and myocardial infarction. Am Heart J. 2002;143:971-6 pubmed..These findings indicate that, in the sample of patients examined in this study, the -159C/T polymorphism of the CD14 gene is not related to CAD or MI. ..
- Lotsch J, Zimmermann M, Darimont J, Marx C, Dudziak R, Skarke C, et al. Does the A118G polymorphism at the mu-opioid receptor gene protect against morphine-6-glucuronide toxicity?. Anesthesiology. 2002;97:814-9 pubmed
- Watabe Rudolph M, Schlautmann N, Papaioannou V, Gossler A. The mouse rib-vertebrae mutation is a hypomorphic Tbx6 allele. Mech Dev. 2002;119:251-6 pubmed..Our results indicate that rv is a regulatory mutation of Tbx6 causing a hypomorphic phenotype. ..
- Stefan N, Stumvoll M, Machicao F, Koch M, Häring H, Fritsche A. C825T polymorphism of the G protein beta3 subunit is associated with obesity but not with insulin sensitivity. Obes Res. 2004;12:679-83 pubmed..However, it probably had no direct effects on insulin sensitivity of lipolysis and glucose disposal. ..
- Rissling I, Geller F, Bandmann O, Stiasny Kolster K, Körner Y, Meindorfner C, et al. Dopamine receptor gene polymorphisms in Parkinson's disease patients reporting "sleep attacks". Mov Disord. 2004;19:1279-84 pubmed..No significant association between two other investigated polymorphisms and the phenomenon of "sleep attacks" in PD was observed. ..
- Silva L, Baums C, Rehm T, Wisselink H, Goethe R, Valentin Weigand P. Virulence-associated gene profiling of Streptococcus suis isolates by PCR. Vet Microbiol. 2006;115:117-27 pubmed..Thus, this study demonstrates for the first time a uniform profile of the particular virulence-associated genes for the vast majority of the investigated invasive cps9 strains...
- Winterer G, Musso F, Vucurevic G, Stoeter P, Konrad A, Seker B, et al. COMT genotype predicts BOLD signal and noise characteristics in prefrontal circuits. Neuroimage. 2006;32:1722-32 pubmed..This suggests that the DA stabilizes cortical microcircuits by sharpening the signal and suppressing surrounding noise. ..
- Müller Steinhardt M, Ebel B, Hartel C. The impact of interleukin-6 promoter -597/-572/-174genotype on interleukin-6 production after lipopolysaccharide stimulation. Clin Exp Immunol. 2007;147:339-45 pubmed..In line with this, determination of the genetic risk profiles might be promising to improve the transplant outcome in the individual patient. ..
- Wermter A, Kamp Becker I, Hesse P, Schulte Körne G, Strauch K, Remschmidt H. Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high-functioning level. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:629-639 pubmed publisher..In conclusion, our results implicate that genetic variation in the OXTR gene might be relevant in the etiology of autism on high-functioning level. ..
- Sos M, Fischer S, Ullrich R, Peifer M, Heuckmann J, Koker M, et al. Identifying genotype-dependent efficacy of single and combined PI3K- and MAPK-pathway inhibition in cancer. Proc Natl Acad Sci U S A. 2009;106:18351-6 pubmed publisher..Our findings may have implications for patient stratification in clinical trials. ..
- Liu J, Radler D, Illi S, Klucker E, Turan E, von Mutius E, et al. TLR2 polymorphisms influence neonatal regulatory T cells depending on maternal atopy. Allergy. 2011;66:1020-9 pubmed publisher..Gene-immunological interactions of the TLR pathway influence Tregs early in life, modulated by maternal atopy. This may be relevant for immune maturation in the development of atopic diseases in childhood. ..
- Shipkova M, Franz J, Abe M, Klett C, Wieland E, Andus T. Association between adverse effects under azathioprine therapy and inosine triphosphate pyrophosphatase activity in patients with chronic inflammatory bowel disease. Ther Drug Monit. 2011;33:321-8 pubmed publisher..The results demonstrate a relationship between low ITPA activity and AEs and support the idea that the determination of ITPA phenotype might be an appropriate alternative to genotyping. ..
- Parmar S, Stingl J, Huber Wechselberger A, Kainz A, Renner W, Langsenlehner U, et al. Impact of UGT2B7 His268Tyr polymorphism on the outcome of adjuvant epirubicin treatment in breast cancer. Breast Cancer Res. 2011;13:R57 pubmed publisher..Breast cancer patients carrying the UGT2B7(268Tyr/Tyr) genotype may benefit most from adjuvant epirubicin-based chemotherapy. These results warrant confirmation in further studies. ..
- Bus A, Körber N, Snowdon R, Stich B. Patterns of molecular variation in a species-wide germplasm set of Brassica napus. Theor Appl Genet. 2011;123:1413-23 pubmed publisher..Furthermore, LD decayed rapidly with distance, which will allow a relatively high mapping resolution in genome-wide association studies using our germplasm set, but, on the other hand, will require a high number of markers. ..
- Schmidt N, Brandsch C, Schutkowski A, Hirche F, Stangl G. Dietary vitamin D inadequacy accelerates calcification and osteoblast-like cell formation in the vascular system of LDL receptor knockout and wild-type mice. J Nutr. 2014;144:638-46 pubmed publisher..05) and tumor necrosis factor ? (+134%, P < 0.001) than the +D group. Collectively, the findings imply low vitamin D status as a causal factor for vascular calcification and atherosclerosis. ..
- Bach P, Kirsch M, Hoffmann S, Jorde A, Mann K, Frank J, et al. The effects of single nucleotide polymorphisms in glutamatergic neurotransmission genes on neural response to alcohol cues and craving. Addict Biol. 2015;20:1022-32 pubmed publisher..911, 95%CI 1.030-3.545, Pâ€‰=â€‰0.040). Findings indicate that SNPs in the GRIN2C and GRIK1 genes are associated with altered cue-induced brain activation that is related to craving for alcohol and relapse risk. ..
- Baraliakos X, Coates L, Braun J. The involvement of the spine in psoriatic arthritis. Clin Exp Rheumatol. 2015;33:S31-5 pubmed..This review aims to give an overview of the existing evidence, the clinical and imaging presentation, and therapeutic consequences of axial involvement in patients with PsA. ..
- Gerlach G, Schardt U, Eckmann R, Meyer A. Kin-structured subpopulations in Eurasian perch (Perca fluviatilis L.). Heredity (Edinb). 2001;86:213-21 pubmed..There is evidence that some shoals contain full- and half-sibs. Despite females spawning in close proximity to each other, some siblings stay together. This might suggest that perch possess kin preferences and kin recognition...
- Gelbmann C, Rogler G, Gierend M, Gross V, Scholmerich J, Andus T. Association of HLA-DR genotypes and IL-1ra gene polymorphism with treatment failure of budesonide and disease patterns in Crohn's disease. Eur J Gastroenterol Hepatol. 2001;13:1431-7 pubmed..This is the first description of an association of a certain HLA-DR genotype (HLA-DR 8) with treatment failure in inflammatory bowel disease (IBD). ..
- Sitorus R, Ardjo S, Lorenz B, Preising M. CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. J Med Genet. 2003;40:e9 pubmed
- Blickwede M, Schwarz S. Molecular analysis of florfenicol-resistant Escherichia coli isolates from pigs. J Antimicrob Chemother. 2004;53:58-64 pubmed publisher..coli isolates from cattle. Variations in the RFLPs of chromosomal EcoRI fragments carrying floR in isolates that had the same macrorestriction pattern might suggest variable chromosomal integration sites...
- Zhang J, Zotz R, Li Y, Wang R, Kiel S, Schulz W, et al. Methylenetetrahydrofolate reductase C677T polymorphism and predisposition towards esophageal squamous cell carcinoma in a German Caucasian and a northern Chinese population. J Cancer Res Clin Oncol. 2004;130:574-80 pubmed..38, 95% CI=0.16-0.88). Our results suggest that, in contrast to German Caucasians, the MTHFR 677CC homozygous wild-type plays a protective role in the development of ESCC in the northern Chinese population. ..
- Konrad C, Langer C, Muller G, Berger K, Dziewas R, Stogbauer F, et al. Protease inhibitors in spontaneous cervical artery dissections. Stroke. 2005;36:9-13 pubmed..The present data does not exclude that the Pi-Z allele might have an influence on subgroups of sCAD, such as internal carotid artery dissections. ..
- Roesler J, Thürigen A, Sun L, Koch R, Winkler U, Laass M, et al. Influence of CARD15 mutations on disease activity and response to therapy in 65 pediatric Crohn patients from Saxony, Germany. J Pediatr Gastroenterol Nutr. 2005;41:27-32 pubmed..Pediatric Crohn patients with CARD15 mutations have a higher disease activity and need a more intensive therapy. With some exceptions, their medium-term response to therapy is nevertheless satisfying. ..
- Klass D, Lauer N, Hay B, Kratzer W, Fuchs M. Arg64 variant of the beta3-adrenergic receptor is associated with gallstone formation. Am J Gastroenterol. 2007;102:2482-7 pubmed..9, P < 0.05) compared with controls. Our results indicate that the ADRB3 Trp64Arg polymorphism is associated with gallstone disease thereby representing a genetic marker that identifies subjects at higher risk for gallstone formation. ..
- Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius M, Loff S, et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007;44:702-9 pubmed..In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown...
- Gmitterova K, Heinemann U, Bodemer M, Krasnianski A, Meissner B, Kretzschmar H, et al. 14-3-3 CSF levels in sporadic Creutzfeldt-Jakob disease differ across molecular subtypes. Neurobiol Aging. 2009;30:1842-50 pubmed publisher..The 14-3-3 protein levels differ across molecular subtypes and might be used for their early pre-mortem identification when the codon 129 genotype is known, especially for the less common molecular subtypes such as MV2 and MM2. ..
- Oberbach A, Lehmann S, Kirsch K, Krist J, Sonnabend M, Linke A, et al. Long-term exercise training decreases interleukin-6 (IL-6) serum levels in subjects with impaired glucose tolerance: effect of the -174G/C variant in IL-6 gene. Eur J Endocrinol. 2008;159:129-36 pubmed publisher..Our data suggest that genetic factors are important determinants for the individual response to anti-inflammatory effects of exercise training. ..
- Asmus F, Langseth A, Doherty E, Nestor T, Munz M, Gasser T, et al. "Jerky" dystonia in children: spectrum of phenotypes and genetic testing. Mov Disord. 2009;24:702-9 pubmed publisher..A causative gene for D-PMM remains to be identified. ..
- Herrmann D, Pantchev N, Vrhovec M, Barutzki D, Wilking H, Frohlich A, et al. Atypical Toxoplasma gondii genotypes identified in oocysts shed by cats in Germany. Int J Parasitol. 2010;40:285-92 pubmed publisher..To our knowledge this is the first description of the presence of T. gondii genotypes different from the clonal Types I, II and III in the faeces of naturally infected cats. ..
- Domschke K, Reif A, Weber H, Richter J, Hohoff C, Ohrmann P, et al. Neuropeptide S receptor gene?--?converging evidence for a role in panic disorder. Mol Psychiatry. 2011;16:938-48 pubmed publisher..The present results provide converging evidence for a female-dominant role of NPSR gene variation in panic disorder potentially through heightened autonomic arousal and distorted processing of anxiety-relevant emotional stimuli. ..
- Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol. 2011;22:2047-56 pubmed publisher..Our findings are consistent with a common pathogenesis and dosage theory for PKD and may propose a general concept for the modification of disease expression in other so-called monogenic disorders. ..
- Roetzer A, Diel R, Kohl T, Ruckert C, Nubel U, Blom J, et al. Whole genome sequencing versus traditional genotyping for investigation of a Mycobacterium tuberculosis outbreak: a longitudinal molecular epidemiological study. PLoS Med. 2013;10:e1001387 pubmed publisher..Our findings suggest that WGS is superior to conventional genotyping for Mtb pathogen tracing and investigating micro-epidemics. WGS provides a measure of Mtb genome evolution over time in its natural host context. ..
- 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...
- Schaefer H, Brandes H, Ulber B, Becker H, Vidal S. Evaluation of nine genotypes of oilseed rape (Brassica napus L.) for larval infestation and performance of rape stem weevil (Ceutorhynchus napi Gyll.). PLoS ONE. 2017;12:e0180807 pubmed publisher..napi is based on both antixenotic and antibiotic properties of the genotypes. The resynthesized line S30 should therefore be introduced into B. napus breeding programs to enhance resistance against C. napi. ..
- Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz Broeking E, et al. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Eur J Hum Genet. 2000;8:414-22 pubmed..This study confirms the implication of paracellin-1 defects in FHHNC and points to a predominant role of this protein in the paracellular reabsorption of divalent cations in the TAL...
- Blankenberg S, Rupprecht H, Poirier O, Bickel C, Smieja M, Hafner G, et al. Plasma concentrations and genetic variation of matrix metalloproteinase 9 and prognosis of patients with cardiovascular disease. Circulation. 2003;107:1579-85 pubmed..Whether it provides independent prognostic information compared with other inflammatory markers will have to be additionally assessed. ..
- Eisenhardt A, Siffert W. Genetic risk factors for erectile dysfunction and genetic determinants of drug response--on the way to improve drug safety?. Herz. 2003;28:304-13 pubmed..Considering cardiovascular side effects under sildenafil treatment, it would be interesting to determine if genetic factors have an impact on the side effect profile of this drug. ..
- Krone N, Riepe F, Grötzinger J, Partsch C, Sippell W. Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2005;90:445-54 pubmed..Studying the enzyme function in vitro helps to understand the phenotypical expression and disease severity of 21-hydroxylase deficiency and also provides new insights into cytochrome P450 structure-function relationships. ..
- Frey U, Lümmen G, Jager T, Jöckel K, Schmid K, Rubben H, et al. The GNAS1 T393C polymorphism predicts survival in patients with clear cell renal cell carcinoma. Clin Cancer Res. 2006;12:759-63 pubmed
- Bottcher Y, Teupser D, Enigk B, Berndt J, Kloting N, Schön M, et al. Genetic variation in the visfatin gene (PBEF1) and its relation to glucose metabolism and fat-depot-specific messenger ribonucleic acid expression in humans. J Clin Endocrinol Metab. 2006;91:2725-31 pubmed..In conclusion, our data suggest that genetic variation in the visfatin gene may have a minor effect on visceral and sc visfatin mRNA expression profiles but does not play a major role in the development of obesity or T2DM. ..
- Fiebig A, Jepsen S, Loos B, Scholz C, Schafer C, Rühling A, et al. Polymorphisms in the interleukin-1 (IL1) gene cluster are not associated with aggressive periodontitis in a large Caucasian population. Genomics. 2008;92:309-15 pubmed publisher..5 for heterozygous carriers and 2.25 for homozygous carriers. Previous reports of an association between IL1 promoter SNPs and periodontitis might reflect subpopulation effects and have to be interpreted with care. ..
- David R, Stieber J, Fischer E, Brunner S, Brenner C, Pfeiler S, et al. Forward programming of pluripotent stem cells towards distinct cardiovascular cell types. Cardiovasc Res. 2009;84:263-72 pubmed publisher..5 further downstream. ..
- Arin M, Grimberg G, Schumann H, de Almeida H, Chang Y, Tadini G, et al. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. Br J Dermatol. 2010;162:1365-9 pubmed publisher..Identification of novel mutations and genotype-phenotype correlations in EBS allow improved understanding of disease pathogenesis as well as better patient management. ..
- Krischek C, Natter R, Wigger R, Wicke M. Adenine nucleotide concentrations and glycolytic enzyme activities in longissimus muscle samples of different pig genotypes collected before and after slaughter. Meat Sci. 2011;89:217-20 pubmed publisher..GP results were rather inconsistent indicating an earlier activation of this enzyme. The study showed that the reduced meat quality in the PiPP pigs is accompanied with rapid ATP degradation and accelerated enzyme activation. ..
- Roudnitzky N, Bufe B, Thalmann S, Kuhn C, Gunn H, Xing C, et al. Genomic, genetic and functional dissection of bitter taste responses to artificial sweeteners. Hum Mol Genet. 2011;20:3437-49 pubmed publisher..Integrative approaches combining phenotypic, genetic and functional analysis will be essential in dissecting these complex relationships. ..