Genomes and Genes
Experts and Doctors on phenotype in Munich, Bavaria, Germany
Locale: Munich, Bavaria, Germany
Publications162 found, 100 shown here
- Marroni F, Pfeufer A, Aulchenko Y, Franklin C, Isaacs A, Pichler I, et al. A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. Circ Cardiovasc Genet. 2009;2:322-8 pubmed publisher..Our results suggested an association between the RR interval and GPR133 and confirmed an association between the QT interval and NOS1AP. ..
- Metz S, Ganter C, Lorenzen S, van Marwick S, Herrmann K, Lordick F, et al. Phenotyping of tumor biology in patients by multimodality multiparametric imaging: relationship of microcirculation, alphavbeta3 expression, and glucose metabolism. J Nucl Med. 2010;51:1691-8 pubmed publisher..The current limitations resulting from imaging with separate scanners might be overcome by future hybrid PET/MRI scanners. ..
- Hoellein A, Graf S, Bassermann F, Schoeffmann S, Platz U, Hölzlwimmer G, et al. Cks1 promotion of S phase entry and proliferation is independent of p27Kip1 suppression. Mol Cell Biol. 2012;32:2416-27 pubmed publisher..In contrast, defects in mitotic entry and premature senescence manifest in Cks1(-/-) cells are p27(Kip1) dependent. Collectively, these findings establish p27(Kip1)-independent functions of Cks1 in regulating the G(1)-S transition. ..
- Lehmann F, Feicht S, Helm F, Maurberger A, Ladinig C, Zimber Strobl U, et al. Humanized c-Myc mouse. PLoS ONE. 2012;7:e42021 pubmed publisher..With these double transgenic mice it will be possible to study simultaneously the therapeutic efficiency and adverse side effects of MYC-specific therapies in the same mouse. ..
- Roduit C, Frei R, Depner M, Karvonen A, Renz H, Braun Fahrlander C, et al. Phenotypes of Atopic Dermatitis Depending on the Timing of Onset and Progression in Childhood. JAMA Pediatr. 2017;171:655-662 pubmed publisher..However, a specific description of subtypes of atopic dermatitis depending on the timing of onset and progression of the disease in childhood is lacking...
- Fingerle V, Laux H, Munderloh U, Schulte Spechtel U, Wilske B. Differential expression of outer surface proteins A and C by individual Borrelia burgdorferi in different genospecies. Med Microbiol Immunol. 2000;189:59-66 pubmed..burgdorferi s.s., but the mode of regulation seems phenotypically different. Further European isolates should be investigated for OspA and OspC regulation, especially in the face of vaccine development for the European situation. ..
- Mayer W, Irschick U, Moser P, Wurm M, Huemer H, Romani N, et al. Characterization of antigen-presenting cells in fresh and cultured human corneas using novel dendritic cell markers. Invest Ophthalmol Vis Sci. 2007;48:4459-67 pubmed..Few APCs are in a mature state (DC-LAMP(+)). Given the reduced but not complete depletion of APCs during organ culture, these grafts still bear a potential risk for rejection. ..
- Morak M, Laner A, Bacher U, Keiling C, Holinski Feder E. MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. Clin Genet. 2010;78:353-63 pubmed publisher..Monoallelic MUTYH mutation carriers had a positive family history in seven of eight cases allowing the hypothesis of a disease-causing synergism of MUTYH mutations with other genes. ..
- Weinkauf M, Hiddemann W, Dreyling M. Sample pooling in 2-D gel electrophoresis: a new approach to reduce nonspecific expression background. Electrophoresis. 2006;27:4555-8 pubmed
- Allebrandt K, Amin N, Muller Myhsok B, Esko T, Teder Laving M, Azevedo R, et al. A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. Mol Psychiatry. 2013;18:122-32 pubmed publisher..ABCC9 encodes an ATP-sensitive potassium channel subunit (SUR2), serving as a sensor of intracellular energy metabolism...
- Gonik M, Frank E, Keßler M, Czamara D, Bunck M, Yen Y, et al. The endocrine stress response is linked to one specific locus on chromosome 3 in a mouse model based on extremes in trait anxiety. BMC Genomics. 2012;13:579 pubmed publisher..The very prominent effect on stress-induced corticosterone secretion of the genomic locus on chromosome 3 and its involvement in epistasis highlights the critical role of this specific locus in the regulation of the HPA axis. ..
- Müller J, Mildner G, Müller Felber W, Schara U, Krampfl K, Petersen B, et al. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology. 2003;60:1805-10 pubmed..Recently, three different mutations in the RAPSN gene have been identified in four CMS patients with AChR deficiency...
- Habib S, Waizenegger T, Niewienda A, Paschen S, Neupert W, Rapaport D. The N-terminal domain of Tob55 has a receptor-like function in the biogenesis of mitochondrial beta-barrel proteins. J Cell Biol. 2007;176:77-88 pubmed..This recognition may contribute to the coupling of the translocation of beta-barrel precursors across the TOM complex to their interaction with the TOB complex. ..
- Schell Apacik C, Hardt M, Ertl Wagner B, Klopocki E, Möhrenschlager M, Heinrich U, et al. Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature. Eur J Pediatr. 2008;167:1057-62 pubmed publisher
- Kotz A, Wagener J, Engel J, Routier F, Echtenacher B, Pich A, et al. The mitA gene of Aspergillus fumigatus is required for mannosylation of inositol-phosphorylceramide, but is dispensable for pathogenicity. Fungal Genet Biol. 2010;47:169-78 pubmed publisher..fumigatus PAMPs. ..
- Glas J, Seiderer J, Wagner J, Olszak T, Fries C, Tillack C, et al. Analysis of IL12B gene variants in inflammatory bowel disease. PLoS ONE. 2012;7:e34349 pubmed publisher..05) but there was no epistasis between IL23R and IL12B variants. The IL12B SNP rs6887695 modulates the susceptibility and the phenotype of IBD, although the effect on IBD susceptibilty is less pronounced than that of IL23R gene variants. ..
- Dümcke S, Seizl M, Etzold S, Pirkl N, Martin D, Cramer P, et al. One Hand Clapping: detection of condition-specific transcription factor interactions from genome-wide gene activity data. Nucleic Acids Res. 2012;40:8883-92 pubmed publisher..We apply OHC to a large gene activity dataset in S. cerevisiae and provide a compendium of condition-specific TF interactions. ..
- van Bebber F, Hruscha A, Willem M, Schmid B, Haass C. Loss of Bace2 in zebrafish affects melanocyte migration and is distinct from Bace1 knock out phenotypes. J Neurochem. 2013;127:471-81 pubmed publisher..These phenotypes are not further enhanced in the viable double mutants. Our data suggest that blocking BACE1 activity is a safe therapeutic approach. ..
- Hauer D, Kolassa I, Laubender R, Mansmann U, Hagl C, Roozendaal B, et al. A genotype-specific, randomized controlled behavioral intervention to improve the neuroemotional outcome of cardiac surgery: study protocol for a randomized controlled trial. Trials. 2013;14:89 pubmed publisher..The trial will be registered at http://www.clinicaltrials.gov/ before commencing with the study. ..
- Zhang L, Lukowski R, Gaertner F, Lorenz M, Legate K, Domes K, et al. Thrombocytosis as a response to high interleukin-6 levels in cGMP-dependent protein kinase I mutant mice. Arterioscler Thromb Vasc Biol. 2013;33:1820-8 pubmed publisher..Dysfunction of cGMP/cGKI signaling in nonhematopoietic cells contributes to a high platelet count, which is potentially associated with thrombosis. ..
- Krasemann S, Madore C, Cialic R, Baufeld C, Calcagno N, El Fatimy R, et al. The TREM2-APOE Pathway Drives the Transcriptional Phenotype of Dysfunctional Microglia in Neurodegenerative Diseases. Immunity. 2017;47:566-581.e9 pubmed publisher..Our work identifies the TREM2-APOE pathway as a major regulator of microglial functional phenotype in neurodegenerative diseases and serves as a novel target that could aid in the restoration of homeostatic microglia. ..
- Thussbas C, Nahrig J, Streit S, Bange J, Kriner M, Kates R, et al. FGFR4 Arg388 allele is associated with resistance to adjuvant therapy in primary breast cancer. J Clin Oncol. 2006;24:3747-55 pubmed..According to this study, FGFR4 Arg388 genotype is a marker for breast cancer progression in patients with adjuvant systemic therapy, particularly chemotherapy, and thus may indicate therapy resistance. ..
- Muller J, Herczegfalvi A, Vilchez J, Colomer J, Bachinski L, Mihaylova V, et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain. 2007;130:1497-506 pubmed
- Hauswald S, Duque Afonso J, Wagner M, Schertl F, Lubbert M, Peschel C, et al. Histone deacetylase inhibitors induce a very broad, pleiotropic anticancer drug resistance phenotype in acute myeloid leukemia cells by modulation of multiple ABC transporter genes. Clin Cancer Res. 2009;15:3705-15 pubmed publisher..To investigate whether additional drug transporters are regulated by HDACi and how this affects cytotoxicity, acute myeloid leukemia (AML) cells were examined...
- Gires O. Lessons from common markers of tumor-initiating cells in solid cancers. Cell Mol Life Sci. 2011;68:4009-22 pubmed publisher..The present review discusses major TIC markers with respect to their function and potential contributions to the tumorigenic phenotype of TICs. ..
- Pech M, Spreter T, Beckmann R, Beatrix B. Dual binding mode of the nascent polypeptide-associated complex reveals a novel universal adapter site on the ribosome. J Biol Chem. 2010;285:19679-87 pubmed publisher..In addition to the previously identified universal adapter site represented by Rpl25/Rpl35, we therefore refer to Rpl31/Rpl17 as a novel universal docking site for ribosome-associated factors on the eukaryotic ribosome. ..
- Glas J, Seiderer J, Tillack C, Pfennig S, Beigel F, Jürgens M, et al. The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn's disease susceptibility gene variants. PLoS ONE. 2010;5:e14466 pubmed publisher..02) were significantly associated with the need for surgery. The NOD2 variants rs2066843 and rs2076756 are novel and common CD susceptibility gene variants. ..
- Gabius H. Glycobiomarkers by glycoproteomics and glycan profiling (glycomics): emergence of functionality. Biochem Soc Trans. 2011;39:399-405 pubmed publisher..Thus studies on glycobiomarkers converge with research on how distinct carbohydrate determinants are turned into bioactive signals. ..
- Natera de Benito D, BestuÃ© M, Vilchez J, Evangelista T, TÃ¶pf A, GarcÃa Ribes A, et al. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. Neuromuscul Disord. 2016;26:153-9 pubmed publisher..In most of the affected patients, additional use of 3,4-diaminopyridine resulted in significant clinical benefit. The disease course is stable except for intermittent worsening. ..
- Weissinger E, Eissner G, Grammer C, Fackler S, Haefner B, Yoon L, et al. Inhibition of the Raf-1 kinase by cyclic AMP agonists causes apoptosis of v-abl-transformed cells. Mol Cell Biol. 1997;17:3229-41 pubmed
- Albert M, Schuster F, Peters C, Schulze S, Pontz B, Muntau A, et al. T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis. Bone Marrow Transplant. 2003;32:443-6 pubmed..The pattern of urinary oligosaccharides has returned to almost normal. CD34-positive-selected PBSCT is a feasible option to reduce risk for GVHD for these patients. ..
- Krebs O, Schreiner C, Scott W, Bell S, Robbins D, Goetz J, et al. Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud. Development. 2003;130:6037-47 pubmed..We propose that the double anterior zeugopod and symmetrical central polydactyly are due to an increased and uniform concentration of the Gli3 repressor form because of lowered Shh signaling. ..
- Höflich J, Berninsone P, Göbel C, Gravato Nobre M, Libby B, Darby C, et al. Loss of srf-3-encoded nucleotide sugar transporter activity in Caenorhabditis elegans alters surface antigenicity and prevents bacterial adherence. J Biol Chem. 2004;279:30440-8 pubmed..We propose that the inability of Yersinia biofilms and M. nematophilum to adhere to the nematode cuticle is due to an altered glycoconjugate surface composition of the srf-3 mutant. ..
- Mohr M, Klempt M, Rathkolb B, de Angelis M, Wolf E, Aigner B. Hypercholesterolemia in ENU-induced mouse mutants. J Lipid Res. 2004;45:2132-7 pubmed..A single line showed further obvious deviations in the analysis of additional clinical chemistry blood parameters. Thus, the lines produced will contribute to the search for alleles that selectively cause primary hypercholesterolemia. ..
- Brand S, Staudinger T, Schnitzler F, Pfennig S, Hofbauer K, Dambacher J, et al. The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD15/NOD2 mutations in the susceptibility and phenotype of Crohn's disease. Inflamm Bowel Dis. 2005;11:645-52 pubmed..6%) compared with the TLR4+/NOD2- group (47.4%, P = 0.059). The TLR4 Asp299Gly polymorphism is a risk factor for CD. TLR4 and CARD15/NOD2 mutations may contribute to distinct disease phenotypes. ..
- Weidinger S, Rummler L, Klopp N, Wagenpfeil S, Baurecht H, Fischer G, et al. Association study of mast cell chymase polymorphisms with atopy. Allergy. 2005;60:1256-61 pubmed
- Schleypen J, Baur N, Kammerer R, Nelson P, Rohrmann K, Gröne E, et al. Cytotoxic markers and frequency predict functional capacity of natural killer cells infiltrating renal cell carcinoma. Clin Cancer Res. 2006;12:718-25 pubmed..The extent of NK cell infiltration and the expression of markers (CD16 and cytotoxins) predict the functional capacity of NK cells infiltrating renal cell carcinoma and can be used to characterize subgroups of renal cell carcinoma. ..
- Kemter E, Rathkolb B, Bankir L, Schrewe A, Hans W, Landbrecht C, et al. Mutation of the Na(+)-K(+)-2Cl(-) cotransporter NKCC2 in mice is associated with severe polyuria and a urea-selective concentrating defect without hyperreninemia. Am J Physiol Renal Physiol. 2010;298:F1405-15 pubmed publisher..In conclusion, this novel viable mouse line with a missense Slc12a1 mutation exhibits most of the features of type I Bartter syndrome and may represent a new model for the study of this human disease...
- Weber F, Cepok S, Wolf C, Berthele A, Uhr M, Bettecken T, et al. Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-? therapy in multiple sclerosis patients. Pharmacogenomics J. 2012;12:238-45 pubmed publisher..Testing for these SNPs and the HLA-DR*0401 or *0408 alleles allows to identify patients at risk to develop antibodies to IFN-? and may provide helpful information for individual treatment decisions. ..
- Haack T, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, et al. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J Med Genet. 2012;49:83-9 pubmed publisher..The authors conclude that the high degree of genetic heterogeneity in complex I disorders warrants the implementation of unbiased genome-wide strategies for the complete molecular dissection of mitochondrial complex I deficiency. ..
- Medugorac I, Seichter D, Graf A, Russ I, Blum H, Göpel K, et al. Bovine polledness--an autosomal dominant trait with allelic heterogeneity. PLoS ONE. 2012;7:e39477 pubmed publisher..The distribution of genotypes of the two putative POLLED alleles in large semi-random sample (1,261 animals) supports the hypothesis of two independent mutations. ..
- Czerwensky F, Leucht S, Steimer W. Association of the common MC4R rs17782313 polymorphism with antipsychotic-related weight gain. J Clin Psychopharmacol. 2013;33:74-9 pubmed publisher..Nevertheless, further studies are needed to elucidate the role and mechanism of this polymorphism...
- Kemter E, Sklenak S, Rathkolb B, Hrabe de Angelis M, Wolf E, Aigner B, et al. No amelioration of uromodulin maturation and trafficking defect by sodium 4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease. J Biol Chem. 2014;289:10715-26 pubmed publisher..Furthermore, the abundance of NF-?B1 p105/p50, NF-?B2 p100/p52, and TRAF2 was increased in UAKD. NF-?B activation was identified as a novel disease mechanism of UAKD and might be a target for therapeutic intervention. ..
- Azukaitis K, Simkova E, Majid M, Galiano M, Benz K, Amann K, et al. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε. J Am Soc Nephrol. 2017;28:3066-3075 pubmed publisher..Furthermore, the benefits of anti-complement therapy are questionable but renal transplant may be a feasible option in the treatment of patients with this condition. ..
- Scheiper S, Hertel B, Beckmann B, Kaab S, Thiel G, Kauferstein S. Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients. BMC Med Genet. 2017;18:113 pubmed publisher..The detected sequence variant causes loss-of-function of the Kir2.1 channel and explains the clinical phenotypes observed in Andersen-Tawil syndrome patients. ..
- Dichgans M. CADASIL: a monogenic condition causing stroke and subcortical vascular dementia. Cerebrovasc Dis. 2002;13 Suppl 2:37-41 pubmed..CADASIL has opened a new perspective in studying basic mechanisms of vessel wall degeneration and ischemic tissue damage related to small vessel disease. ..
- Lichtner P, Attie Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler P, et al. Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. J Mol Med (Berl). 2002;80:431-42 pubmed..We did not find BRUNOL3 mutations in 92 DiGeorge syndrome-like patients without chromosomal deletions and in 8 parents with congenital heart defect children. ..
- Asmus F, Zimprich A, Tezenas du Montcel S, Kabus C, Deuschl G, Kupsch A, et al. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol. 2002;52:489-92 pubmed..Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome. ..
- Binder E, Owens M, Liu W, Deveau T, Rush A, Trivedi M, et al. Association of polymorphisms in genes regulating the corticotropin-releasing factor system with antidepressant treatment response. Arch Gen Psychiatry. 2010;67:369-79 pubmed publisher..These data indicate that a genetic variant within the CRHBP locus affects response to citalopram in African American and Hispanic patients, suggesting a role for this gene and for the CRF system in antidepressant treatment response. ..
- Kotz A, Wagener J, Engel J, Routier F, Echtenacher B, Jacobsen I, et al. Approaching the secrets of N-glycosylation in Aspergillus fumigatus: characterization of the AfOch1 protein. PLoS ONE. 2010;5:e15729 pubmed publisher..Infection experiments provided no evidence for attenuation in virulence; in fact, according to our data the ?afoch1 mutant may even be slightly more virulent than the control strains...
- Monticone S, Burrello J, Tizzani D, Bertello C, Viola A, Buffolo F, et al. Prevalence and Clinical Manifestations of Primary Aldosteronism Encountered in PrimaryÂ CareÂ Practice. J Am Coll Cardiol. 2017;69:1811-1820 pubmed publisher..Our results demonstrated that PA is a frequent cause of secondary hypertension, even in the generalÂ population of patients with hypertension, and indicates that most of these patients should be screened for PA. ..
- Kliche S, Nagel W, Kremmer E, Atzler C, Ege A, Knorr T, et al. Signaling by human herpesvirus 8 kaposin A through direct membrane recruitment of cytohesin-1. Mol Cell. 2001;7:833-43 pubmed..These results suggest a previously unknown involvement of ARF GTPases in the control of cellular functions by herpesviruses. ..
- Scheller H, Tobollik S, Kutzera A, Eder M, Unterlehberg J, Pfeil I, et al. c-Myc overexpression promotes a germinal center-like program in Burkitt's lymphoma. Oncogene. 2010;29:888-97 pubmed publisher..Our findings elucidate how the activity of a pivotal transcription factor may freeze B-cell lymphoma cells in a constitutive GC-like state that is even maintained at an extrafollicular location. ..
- Wess G, Schinner C, Weber K, Kuchenhoff H, Hartmann K. Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats. J Vet Intern Med. 2010;24:527-32 pubmed publisher..The value of currently available genetic tests is low in the cats of this study. The mutations analyzed appear to have a low penetrance, and even homozygote cats can remain healthy. ..
- Herbst S, Proepper C, Geis T, Borggraefe I, Hahn A, Debus O, et al. LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain Dev. 2016;38:399-406 pubmed publisher..Phenobarbital and vigabatrin achieved good or partial response in 62-83% of the patients. Our findings suggest that patients with LIS1-associated lissencephaly might benefit most from lamotrigine, valproate, vigabatrin or phenobarbital. ..
- Maier E, Liebl B, Röschinger W, Nennstiel Ratzel U, Fingerhut R, Olgemöller B, et al. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2005;25:443-52 pubmed..Our data might provide technical and medical guidance for decision making in the worldwide efforts to introduce MCADD population screening. ..
- Winkelmann J, Lin L, Schormair B, Kornum B, Faraco J, Plazzi G, et al. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet. 2012;21:2205-10 pubmed publisher..Our mutations are all located in exon 21 and in very close spatial proximity, suggesting distinct phenotypes depending on mutation location within this gene...
- Wheeler E, Leong A, Liu C, Hivert M, Strawbridge R, Podmore C, et al. Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. PLoS Med. 2017;14:e1002383 pubmed publisher..Screening with direct glucose measurements, or genetically-informed HbA1c diagnostic thresholds in people with G6PD deficiency, may be required to avoid missed or delayed diagnoses. ..
- Magg T, Albert M. Tracking cell proliferation using the far red fluorescent dye SNARF-1. Cytometry B Clin Cytom. 2007;72:458-64 pubmed..In summary, we have demonstrated that labeling of cells with SNARF-1 allows for estimating cell proliferation of cells of hematopoietic and non-hematopoietic origin. ..
- Hausl M, Zhang W, Müther N, Rauschhuber C, Franck H, Merricks E, et al. Hyperactive sleeping beauty transposase enables persistent phenotypic correction in mice and a canine model for hemophilia B. Mol Ther. 2010;18:1896-906 pubmed publisher..Demonstrating that a viral vector system can deliver clinically relevant levels of a therapeutic protein in a large animal model of human disease paves a new path toward the possible cure of genetic diseases. ..
- Glas J, Seiderer J, Bues S, Stallhofer J, Fries C, Olszak T, et al. IRGM variants and susceptibility to inflammatory bowel disease in the German population. PLoS ONE. 2013;8:e54338 pubmed publisher..Our results confirm IRGM as susceptibility gene for CD in the German population, supporting a role for the autophagy genes IRGM and ATG16L1 in the pathogenesis of CD. ..
- Avitzur Y, Guo C, Mastropaolo L, Bahrami E, Chen H, Zhao Z, et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology. 2014;146:1028-39 pubmed publisher..Defects in the phosphatidylinositol 4-kinase-TTC7A-EFR3 homolog B pathway are involved in the pathogenesis of VEOIBD. ..
- Hartl D, Griese M. Interstitial lung disease in children -- genetic background and associated phenotypes. Respir Res. 2005;6:32 pubmed..The knowledge of gene variants and associated phenotypes is crucial to identify relevant patients in clinical practice...
- Eggert M, MÃ¼ller S, Heinrich U, Mehraein Y. A new familial case of microdeletion syndrome 10p15.3. Eur J Med Genet. 2016;59:179-82 pubmed publisher..The patients presented here add up to the as yet small number of reported cases of microdeletion 10p15.3 and thereby might help to establish a more comprehensive clinical spectrum of this rather newly discovered syndrome. ..
- Morak M, Massdorf T, Sykora H, Kerscher M, Holinski Feder E. First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. Eur J Cancer. 2011;47:1046-55 pubmed publisher..Oligogenic inheritance affecting genes of a certain repair pathway might therefore be the missing link between monogenic and polygenic traits. ..
- BÃ¼scher A, Beck B, Melk A, Hoefele J, Kranz B, Bamborschke D, et al. Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2016;11:245-53 pubmed publisher..CsA should be given for a minimum period of 6 months in these patients with nongenetic SRNS. In genetic SRNS, response to CsA was low and restricted to exceptional patients. ..
- Dorger M, Münzing S, Allmeling A, Messmer K, Krombach F. Phenotypic and functional differences between rat alveolar, pleural, and peritoneal macrophages. Exp Lung Res. 2001;27:65-76 pubmed..Taken together, the findings of this study demonstrate that rat PLM resemble PM more than AM in terms of production of key inflammatory mediators. ..
- Rudelius M, Osanger A, Kohlmann S, Augustin M, Piontek G, Heinzmann U, et al. A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration. Acta Neuropathol. 2006;112:267-76 pubmed..It could also provide an important tool to elucidate the role of neuronal lysosomal trafficking in the pathophysiology of neurodegeneration. ..
- Haack T, Hogarth P, Kruer M, Gregory A, Wieland T, Schwarzmayr T, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet. 2012;91:1144-9 pubmed publisher..This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration. ..
- Anto J, Bousquet J, Akdis M, Auffray C, Keil T, Momas I, et al. Mechanisms of the Development of Allergy (MeDALL): Introducing novel concepts in allergy phenotypes. J Allergy Clin Immunol. 2017;139:388-399 pubmed publisher..The results of MeDALL will help integrate personalized, predictive, preventative, and participatory approaches in allergic diseases. ..
- Prell C, Konstantopoulos N, Heinzelmann B, Frankenberger B, Reinhardt D, Schendel D, et al. Frequency of Valpha24+CD161+ natural killer T cells and invariant TCRAV24-AJ18 transcripts in atopic and non-atopic individuals. Immunobiology. 2003;208:367-80 pubmed..If NKT cells contribute to development of type I allergies they must do so at earlier times or in other locations. ..
- Lahl K, Loddenkemper C, Drouin C, Freyer J, Arnason J, Eberl G, et al. Selective depletion of Foxp3+ regulatory T cells induces a scurfy-like disease. J Exp Med. 2007;204:57-63 pubmed..Furthermore, DEREG mice will allow a more precise definition of the function of Foxp3+ T reg cells in immune reactions in vivo. ..
- Kiefer D, Dalantai G, Damdindorj T, Riehm J, Tomaso H, Zöller L, et al. Phenotypical characterization of Mongolian Yersinia pestis strains. Vector Borne Zoonotic Dis. 2012;12:183-8 pubmed publisher..This strain was isolated from a wildlife rodent with no anthropogenic influence and thus suggests naturally acquired resistance. ..
- Samantaray S, Neubauer M, Helmschrott C, Wagener J. Role of the guanine nucleotide exchange factor Rom2 in cell wall integrity maintenance of Aspergillus fumigatus. Eukaryot Cell. 2013;12:288-98 pubmed publisher..Our results place Rom2 between the cell surface stress sensors Wsc1, Wsc3, MidA, and Rho1 and their downstream effector mitogen-activated protein (MAP) kinase module Bck1-Mkk2-MpkA. ..
- Neth P, Nazari Jahantigh M, Schober A, Weber C. MicroRNAs in flow-dependent vascular remodelling. Cardiovasc Res. 2013;99:294-303 pubmed publisher..Further elucidating the regulation of miRs by flow may allow future clinical applications of miRs as diagnostic and therapeutic tools. ..
- Schaaf L, Pickel J, Zinner K, Hering U, Hofler M, Goretzki P, et al. Developing effective screening strategies in multiple endocrine neoplasia type 1 (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 1. Exp Clin Endocrinol Diabetes. 2007;115:509-17 pubmed..As the tumors appear in an unpredictable schedule, uncertainty about screening programs is persisting...
- Dahlhoff M, Schafer M, Wolf E, Schneider M. Genetic deletion of the EGFR ligand epigen does not affect mouse embryonic development and tissue homeostasis. Exp Cell Res. 2013;319:529-35 pubmed publisher..In conclusion, we completed the genetic analysis of EGFR ligands and show that epigen has non-essential functions or functions that can be compensated by other EGFR ligands during growth and tissue homeostasis. ..
- Maier E, Mayerhofer P, Asheuer M, Kohler W, Rothe M, Muntau A, et al. X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype. Biochem Biophys Res Commun. 2008;377:176-80 pubmed publisher..These findings are of particular importance for the attempt of pharmacological induction of ABCD2 as a possible therapeutic approach in X-ALD...
- Giehl K, Schmuth M, Tosti A, de Berker D, Crispin A, Wolff H, et al. Concomitant manifestation of pili annulati and alopecia areata: coincidental rather than true association. Acta Derm Venereol. 2011;91:459-62 pubmed publisher..Based on the current data, and considering the low number within individual families of patients affected by both diseases, however, a direct association between pili annulati and alopecia areata seems unlikely. ..
- Pfeufer A, Jalilzadeh S, Perz S, Mueller J, Hinterseer M, Illig T, et al. Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. Circ Res. 2005;96:693-701 pubmed
- Gerber J, Reiter A, Steinbauer R, Jakob S, Kuhn C, Cramer P, et al. Site specific phosphorylation of yeast RNA polymerase I. Nucleic Acids Res. 2008;36:793-802 pubmed..2, suggesting a role in RNA cleavage/elongation or termination. Our results suggest that individual major or constitutively phosphorylated residues contribute to non-essential Pol I-functions. ..
- Giehl K, Potter C, Wu B, Silva K, Rowe L, Awgulewitsch A, et al. Hair interior defect in AKR/J mice. Clin Exp Dermatol. 2009;34:509-17 pubmed publisher..A potentially novel gene or known gene with a novel phenotype resides within this interval, which may shed light on human diseases with defects in the inner structure of the hair fibre. ..
- Muller J, Abicht A, Christen H, Stucka R, Schara U, Mortier W, et al. A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. Neuromuscul Disord. 2004;14:744-9 pubmed..Interestingly, an Alu-mediated unequal homologous recombination may have caused the deletion. We hypothesize that numerous interspersed Alu elements may predispose the RAPSN locus for genetic rearrangements...
- Poth T, Breuer W, Walter B, Hecht W, Hermanns W. Disorders of sex development in the dog-Adoption of a new nomenclature and reclassification of reported cases. Anim Reprod Sci. 2010;121:197-207 pubmed publisher..The diagnostic approach and clinical, pathomorphological and cytogenetic findings were described in detail. ..
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