Experts and Doctors on mutation in Munich, Bavaria, Germany


Locale: Munich, Bavaria, Germany
Topic: mutation

Top Publications

  1. Di Genaro M, Waidmann M, Kramer U, Hitziger N, Bohn E, Autenrieth I. Attenuated Yersinia enterocolitica mutant strains exhibit differential virulence in cytokine-deficient mice: implications for the development of novel live carrier vaccines. Infect Immun. 2003;71:1804-12 pubmed
    ..enterocolitica. Finally, we demonstrate that, even in immunocompromised hosts, Yersinia sycH and, with some restrictions, irp-1 mutants may be suitable for use as live carrier vaccines. ..
  2. Bonfig W, Bittmann I, Bechtold S, Kammer B, Noelle V, Arleth S, et al. Virilising adrenocortical tumours in children. Eur J Pediatr. 2003;162:623-8 pubmed
    ..Histology scores adapted from adrenal tumours in adults and molecular markers are under investigation, but there is still not enough clinical experience since ACT are so rare...
  3. Roschinger W, Muntau A, Rudolph G, Roscher A, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000;69:213-22 pubmed
  4. Galceran J, Sustmann C, Hsu S, Folberth S, Grosschedl R. LEF1-mediated regulation of Delta-like1 links Wnt and Notch signaling in somitogenesis. Genes Dev. 2004;18:2718-23 pubmed
    ..Finally, the induced expression of LEF1-beta-catenin activates the expression of endogenous Dll1 in fibroblastic cells. Thus, Wnt signaling can affect the Notch pathway by a LEF1-mediated regulation of Dll1. ..
  5. Thaler C, Budiman H, Ruebsamen H, Nagel D, Lohse P. Effects of the common 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene on ovarian responsiveness to recombinant follicle-stimulating hormone. Am J Reprod Immunol. 2006;55:251-8 pubmed
    ..002) than heterozygous or homozygous carriers of the 677T allele. Our results suggest that, in patients of advanced reproductive age, the MTHFR 677C>T mutation affects ovarian responsiveness. ..
  6. Weidinger S, Baurecht H, Wagenpfeil S, Henderson J, Novak N, Sandilands A, et al. Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk. J Allergy Clin Immunol. 2008;122:560-8.e4 pubmed publisher
    ..The KLK7 insertion appears to confer no risk of eczema. We found no interaction between the SPINK5 risk allele or the putative KLK7 risk allele and FLG mutations. ..
  7. Feichtinger R, Oláhová M, Kishita Y, Garone C, Kremer L, Yagi M, et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017;101:525-538 pubmed publisher
    ..C1QBP deficiency represents an important mitochondrial disorder associated with a clinical spectrum ranging from infantile lactic acidosis to childhood (cardio)myopathy and late-onset progressive external ophthalmoplegia. ..
  8. Sing A, Hogardt M, Bierschenk S, Heesemann J. Detection of differences in the nucleotide and amino acid sequences of diphtheria toxin from Corynebacterium diphtheriae and Corynebacterium ulcerans causing extrapharyngeal infections. J Clin Microbiol. 2003;41:4848-51 pubmed
    ..diphtheriae DT sequences, mainly in the translocation and receptor-binding domains. C. ulcerans supernatants were much less potent than supernatant from C. diphtheriae. A C. ulcerans DT-specific PCR is described below...
  9. Sotlar K, Cerny Reiterer S, Petat Dutter K, Hessel H, Berezowska S, Müllauer L, et al. Aberrant expression of CD30 in neoplastic mast cells in high-grade mastocytosis. Mod Pathol. 2011;24:585-95 pubmed publisher
    ..Upregulated expression of CD30 in advanced systemic mastocytosis may thus be employed as a potential marker for grading systemic mastocytosis in hematopathology. ..

More Information

Publications328 found, 100 shown here

  1. Billington C, Schmidt B, Zhang L, Hodges J, Georgieff M, Schotta G, et al. Maternal diet supplementation with methyl donors and increased parity affect the incidence of craniofacial defects in the offspring of twisted gastrulation mutant mice. J Nutr. 2013;143:332-9 pubmed publisher
    ..1 to 45.3% in MDS, P = 0.045). In conclusion, methyl donor supplementation shows protective effects against jaw defects, but not midline facial defects, and increased parity can be a risk factor for some craniofacial defects...
  2. Görner K, Holtorf E, Odoy S, Nuscher B, Yamamoto A, Regula J, et al. Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1. J Biol Chem. 2004;279:6943-51 pubmed
    ..Thus, structural defects of [E64D]DJ-1 only become apparent upon denaturing conditions, whereas the L166P mutation causes a drastic defect that leads to excessive degradation. ..
  3. Schnittger S, Eder C, Jeromin S, Alpermann T, Fasan A, Grossmann V, et al. ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome. Leukemia. 2013;27:82-91 pubmed publisher
    ..032, relative risk: 1.70). In conclusion, ASXL1mut belong to the most frequent mutations in intermediate risk group AML. Their strong and independent dismal prognostic impact suggests the inclusion into the diagnostic work-up of AML. ..
  4. Kappler R, Calzada Wack J, Schnitzbauer U, Koleva M, Herwig A, Piontek G, et al. Molecular characterization of Patched-associated rhabdomyosarcoma. J Pathol. 2003;200:348-56 pubmed
    ..Taken together, the data suggest that the formation of RMSs in Ptch1 mutants is associated with the ability of tumour cells to resist apoptosis. ..
  5. Thon N, Eigenbrod S, Grasbon Frodl E, Ruiter M, Mehrkens J, Kreth S, et al. Novel molecular stereotactic biopsy procedures reveal intratumoral homogeneity of loss of heterozygosity of 1p/19q and TP53 mutations in World Health Organization grade II gliomas. J Neuropathol Exp Neurol. 2009;68:1219-28 pubmed publisher
    ..There was no biopsy-related morbidity. We conclude that determination of the LOH 1p/19q and TP53 status using this molecular stereotactic biopsy technique is safe and reliable in cases of unresectable gliomas. ..
  6. Jaksch M, Paret C, Stucka R, Horn N, Müller Höcker J, Horvath R, et al. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet. 2001;10:3025-35 pubmed
    ..Whatever the mechanism, this result suggests a possible therapy for the early treatment of this fatal infantile disease. ..
  7. Müller J, Baumeister S, Rasic V, Krause S, Todorovic S, Kugler K, et al. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology. 2006;67:1159-64 pubmed
    ..Sequencing of the entire gene may be considered in patients with joint contractures and respiratory problems even in the absence of the mutation N88K. ..
  8. Hoppe T, Cassata G, Barral J, Springer W, Hutagalung A, Epstein H, et al. Regulation of the myosin-directed chaperone UNC-45 by a novel E3/E4-multiubiquitylation complex in C. elegans. Cell. 2004;118:337-49 pubmed
    ..These results identify CHN-1 and UFD-2 as a functional E3/E4 complex and UNC-45 as its physiologically relevant substrate. ..
  9. Steiner H, Fluhrer R, Haass C. Intramembrane proteolysis by gamma-secretase. J Biol Chem. 2008;283:29627-31 pubmed publisher
    ..Modulators of gamma-secretase, which selectively affect the production of the pathological 42-amino acid Abeta, do not inhibit Notch signaling. ..
  10. Steinlein O, Aichinger E, Trucks H, Sander T. Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. BMC Med Genet. 2011;12:152 pubmed publisher
    ..Furthermore, it adds dentinogenesis imperfecta to the spectrum of clinical symptoms associated with FKBP10 mutations. ..
  11. Preuss M, Leonhard K, Hell K, Stuart R, Neupert W, Herrmann J. Mba1, a novel component of the mitochondrial protein export machinery of the yeast Saccharomyces cerevisiae. J Cell Biol. 2001;153:1085-96 pubmed
    ..We conclude that Mba1 is part of the mitochondrial protein export machinery and represents the first component of a novel Oxa1-independent insertion pathway into the mitochondrial inner membrane. ..
  12. Dobreva G, Dambacher J, Grosschedl R. SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. Genes Dev. 2003;17:3048-61 pubmed
    ..Sumoylation is also involved in targeting SATB2 to the nuclear periphery, raising the possibility that this reversible modification of a MAR-binding protein may contribute to the modulation of subnuclear DNA localization. ..
  13. Kolben T, Hary T, Holdt L, Schwarz T, Goess C, Wuerstlein R, et al. Thyroid Hormones and Vitamin D in Patients with Breast Cancer with Mutations in BRCA1 or BRCA2 Genes. Anticancer Res. 2016;36:3185-90 pubmed
    ..Vitamin D was significantly elevated in BRCA2-mutation carriers and the observation of a better tumor grade in this group could be consistent with the ability of vitamin D to inhibit growth and induce differentiation. ..
  14. Czermin B, Melfi R, McCabe D, Seitz V, Imhof A, Pirrotta V. Drosophila enhancer of Zeste/ESC complexes have a histone H3 methyltransferase activity that marks chromosomal Polycomb sites. Cell. 2002;111:185-96 pubmed
    ..Histone H3 methylated in vitro by the E(Z)/ESC complex binds specifically to Polycomb protein. ..
  15. Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter M, et al. GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology. 2007;69:655-9 pubmed
    ..For diagnostic purposes, direct genetic analysis of the GNE gene in patients with IBM will remain the mainstay and is not aided by immunohistochemistry or immunoblotting using antibodies against the GNE protein. ..
  16. Lutterbuese R, Raum T, Kischel R, Hoffmann P, Mangold S, Rattel B, et al. T cell-engaging BiTE antibodies specific for EGFR potently eliminate KRAS- and BRAF-mutated colorectal cancer cells. Proc Natl Acad Sci U S A. 2010;107:12605-10 pubmed publisher
    ..EGFR-specific BiTE antibodies may have potential to treat CRC that does not respond to conventional antibodies. ..
  17. Pogoda M, Bosse J, Wagner F, Schauflinger M, Walther P, Koszinowski U, et al. Characterization of conserved region 2-deficient mutants of the cytomegalovirus egress protein pM53. J Virol. 2012;86:12512-24 pubmed publisher
    ..Unlike the CR4 DN, the CR2 DN mutants did not affect the stability of pM50. ..
  18. Schwenkert S, Legen J, Takami T, Shikanai T, Herrmann R, Meurer J. Role of the low-molecular-weight subunits PetL, PetG, and PetN in assembly, stability, and dimerization of the cytochrome b6f complex in tobacco. Plant Physiol. 2007;144:1924-35 pubmed
    ..Ferredoxin-dependent plastoquinone reduction, which functions in cyclic electron transport around PSI in vivo, was not impaired in DeltapetL. ..
  19. Reindl C, Quentmeier H, Petropoulos K, Greif P, Benthaus T, Argiropoulos B, et al. CBL exon 8/9 mutants activate the FLT3 pathway and cluster in core binding factor/11q deletion acute myeloid leukemia/myelodysplastic syndrome subtypes. Clin Cancer Res. 2009;15:2238-47 pubmed publisher
    ..This phenotype resembles the one of mutated RTKs and suggests that CBL mutant AML patients might benefit from treatment with FLT3 PTK inhibitors. ..
  20. Albert M, Bittner T, Nonoyama S, Notarangelo L, Burns S, Imai K, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood. 2010;115:3231-8 pubmed publisher
    ..These observations will allow better decision making when considering treatment options for individual patients with XLT. ..
  21. Schnittger S, Bacher U, Dicker F, Kern W, Alpermann T, Haferlach T, et al. Associations between imatinib resistance conferring mutations and Philadelphia positive clonal cytogenetic evolution in CML. Genes Chromosomes Cancer. 2010;49:910-8 pubmed publisher
    ..Therefore, some KD mutations (e.g., T315I) might be associated with higher genetic instability paving the way to additional cytogenetic and molecular genetic events. ..
  22. Reindl L, Bacher U, Dicker F, Alpermann T, Kern W, Schnittger S, et al. Biological and clinical characterization of recurrent 14q deletions in CLL and other mature B-cell neoplasms. Br J Haematol. 2010;151:25-36 pubmed publisher
    ..80·1 months, P = 0·015). In conclusion, the del(14q) is a rare recurrent alteration in diverse mature B-cell neoplasms, shows variable size but distinct clustering of breakpoints, and is associated with short time to treatment. ..
  23. Heesemann L, Kotz A, Echtenacher B, Broniszewska M, Routier F, Hoffmann P, et al. Studies on galactofuranose-containing glycostructures of the pathogenic mold Aspergillus fumigatus. Int J Med Microbiol. 2011;301:523-30 pubmed publisher
    ..fumigatus PAMP and describe 2 novel galactomannan antibodies that might be valuable tools for the diagnosis of A. fumigatus infections and further analysis of the biological significance of galactomannan. ..
  24. Guergueltcheva V, Müller J, Dusl M, Senderek J, Oldfors A, Lindbergh C, et al. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol. 2012;259:838-50 pubmed publisher
    ..As tubular aggregates in context of a neuromuscular transmission defect appear to be highly indicative, we suggest calling this condition congenital myasthenic syndrome with tubular aggregates (CMS-TA). ..
  25. Schmid S, Schuster T, Horn T, Gschwend J, Treiber U, Weirich G. Utility of ATP7B in prediction of response to platinum-based chemotherapy in urothelial bladder cancer. Anticancer Res. 2013;33:3731-7 pubmed
    ..3, with a tendency to have a better response to chemotherapy. Although resistance is complex, LOH at the ATP7B locus might be useful in predicting chemotherapy response and needs further evaluation. ..
  26. 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. ..
  27. Griese M, Ripper J, Sibbersen A, Lohse P, Lohse P, Brasch F, et al. Long-term follow-up and treatment of congenital alveolar proteinosis. BMC Pediatr. 2011;11:72 pubmed publisher
  28. Danhauser K, Sauer S, Haack T, Wieland T, Staufner C, Graf E, et al. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am J Hum Genet. 2012;91:1082-7 pubmed publisher
    ..All together, our results establish mutations in DHTKD1 as a cause of human 2-aminoadipic and 2-oxoadipic aciduria via impaired turnover of decarboxylation 2-oxoadipate to glutaryl-CoA. ..
  29. Marasovic M, Zocco M, Halic M. Argonaute and Triman generate dicer-independent priRNAs and mature siRNAs to initiate heterochromatin formation. Mol Cell. 2013;52:173-83 pubmed publisher
    ..Our results suggest that Argonaute association with RNA degradation products generates priRNAs and triggers RNAi in a process of transcriptome surveillance. ..
  30. Hocke S, Guo Y, Job A, Orth M, Ziesch A, Lauber K, et al. A synthetic lethal screen identifies ATR-inhibition as a novel therapeutic approach for POLD1-deficient cancers. Oncotarget. 2016;7:7080-95 pubmed publisher
    ..POLD1 deficiency might thus represent a predictive marker for treatment response towards ATR- or CHK1-inhibitors that are currently tested in clinical trials. ..
  31. Silvestri V, Barrowdale D, Mulligan A, Neuhausen S, Fox S, Karlan B, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18:15 pubmed publisher
    ..e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management. ..
  32. Dichgans M, Ludwig H, Müller Höcker J, Messerschmidt A, Gasser T. Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains. Eur J Hum Genet. 2000;8:280-5 pubmed
    ..To study the potential effects of these mutations 3D homology models of the first six EGF domains were generated on the basis of NMR data from human fibrillin-1. These models predict domain misfolding for a subset of mutations. ..
  33. Meindl A. Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer. 2002;97:472-80 pubmed
    ..The decision for or against molecular diagnosis is now aided by considering the expected mutation detection rates that greatly depend on family history and structure. ..
  34. Semmrich M, Smith A, Feterowski C, Beer S, Engelhardt B, Busch D, et al. Importance of integrin LFA-1 deactivation for the generation of immune responses. J Exp Med. 2005;201:1987-98 pubmed
    ..Thus, deactivation of LFA-1 and disassembly of LFA-1-mediated cell contacts seem to be vital for the generation of normal immune responses. ..
  35. Schunk M, Kumma W, Miranda I, Osman M, Roewer S, Alano A, et al. High prevalence of drug-resistance mutations in Plasmodium falciparum and Plasmodium vivax in southern Ethiopia. Malar J. 2006;5:54 pubmed
    ..These data point to an extraordinarily high frequency of drug-resistance mutations in both P. falciparum and P. vivax in southern Ethiopia, and strongly support that both SP and CQ are inadequate drugs for this region. ..
  36. Resenberger U, Winklhofer K, Tatzelt J. Neuroprotective and neurotoxic signaling by the prion protein. Top Curr Chem. 2011;305:101-19 pubmed publisher
    ..In this review we will summarize current knowledge of neurotoxic PrP conformers and discuss the role of PrP(C) as a mediator of both stress-protective and neurotoxic signaling cascades. ..
  37. Illert A, Zech M, Moll C, Albers C, Kreutmair S, Peschel C, et al. Extracellular signal-regulated kinase 2 (ERK2) mediates phosphorylation and inactivation of nuclear interaction partner of anaplastic lymphoma kinase (NIPA) at G2/M. J Biol Chem. 2012;287:37997-8005 pubmed publisher
    ..Thus, our data add to the recently described divergent functions of ERK1 and ERK2 in cell cycle regulation, which may be due in part to the differential ability of these kinases to phosphorylate and inactivate NIPA at G(2)/M. ..
  38. Bender A, Desplats P, Spencer B, Rockenstein E, Adame A, Elstner M, et al. TOM40 mediates mitochondrial dysfunction induced by ?-synuclein accumulation in Parkinson's disease. PLoS ONE. 2013;8:e62277 pubmed publisher
    ..Our results suggest that alterations in the mitochondrial protein transport machinery might contribute to mitochondrial impairment in ?-Synucleinopathies. ..
  39. Herbst A, Kolligs F. Wnt signaling as a therapeutic target for cancer. Methods Mol Biol. 2007;361:63-91 pubmed
    ..Therefore, targeted inhibition of Wnt/beta-catenin signaling is a rational and promising new approach for the therapy of cancers of various origins. ..
  40. Horvath R, Lochmuller H, Stucka R, Yao J, Shoubridge E, Kim S, et al. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Biochem Biophys Res Commun. 2000;276:530-3 pubmed
    ..We conclude that neither SCO1 nor COX17 are common causes of COX deficiency disorders. ..
  41. Peters N, Opherk C, Zacherle S, Capell A, Gempel P, Dichgans M. CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk. Exp Cell Res. 2004;299:454-64 pubmed
    ..Moreover, the data suggest that ligand-induced receptor shedding may not be required for N3ECD deposition in CADASIL. ..
  42. Theisen J, Peters J, Fein M, Hughes M, Hagen J, Demeester S, et al. The mutagenic potential of duodenoesophageal reflux. Ann Surg. 2005;241:63-8 pubmed
    ..The specific mutations are markedly higher than would be expected by chance and are similar to that found in p53 mutations of human esophageal adenocarcinoma, providing a link to human esophageal cancer. ..
  43. Rieder G, Merchant J, Haas R. Helicobacter pylori cag-type IV secretion system facilitates corpus colonization to induce precancerous conditions in Mongolian gerbils. Gastroenterology. 2005;128:1229-42 pubmed
    ..pylori to colonize the gastric corpus. This results in atrophic corpus-dominant gastritis, a severe precancerous condition, thus highlighting T4SS and CagA as major risk factors for gastric cancer development...
  44. Müller J, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, et al. An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. Neurology. 2005;65:463-5 pubmed
    ..In conclusion, RNA analysis may be necessary to reveal unexpected splicing aberrations due to intronic mutations that are not part of the consensus splice site...
  45. Rodriguez E, Illig T, Weidinger S. Filaggrin loss-of-function mutations and association with allergic diseases. Pharmacogenomics. 2008;9:399-413 pubmed publisher
    ..The observations on filaggrin provide striking new insights into the etiology of atopic diseases and might pave the way for the development of new therapeutic approaches. ..
  46. Funes S, Hasona A, Bauerschmitt H, Grubbauer C, Kauff F, Collins R, et al. Independent gene duplications of the YidC/Oxa/Alb3 family enabled a specialized cotranslational function. Proc Natl Acad Sci U S A. 2009;106:6656-61 pubmed publisher
    ..Our results are consistent with a gene-duplication event in gram-positive bacteria that enabled the specialization of a YidC isoform that mediates cotranslational activity independent of an SRP pathway. ..
  47. 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...
  48. Grimm C, Hassan S, Wahl Schott C, Biel M. Role of TRPML and two-pore channels in endolysosomal cation homeostasis. J Pharmacol Exp Ther. 2012;342:236-44 pubmed publisher
  49. Bäuerlein F, Saha I, Mishra A, Kalemanov M, Martinez Sanchez A, Klein R, et al. In Situ Architecture and Cellular Interactions of PolyQ Inclusions. Cell. 2017;171:179-187.e10 pubmed publisher
    ..These results suggest that aberrant interactions between fibrils and endomembranes contribute to the deleterious cellular effects of protein aggregation. VIDEO ABSTRACT. ..
  50. Scharfe C, Hauschild M, Klopstock T, Janssen A, Heidemann P, Meitinger T, et al. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. J Med Genet. 2000;37:669-73 pubmed
    ..The clinical features of TRMA, resembling in part those found in typical mitochondrial disorders with complex I deficiency, may be caused by a secondary defect in mitochondrial energy production. ..
  51. Holzinger A, Maier E, Bück C, Mayerhofer P, Kappler M, Haworth J, et al. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am J Hum Genet. 2002;70:20-5 pubmed
    ..These data provide first evidence that proenteropeptidase-gene mutations are the primary cause of congenital enteropeptidase deficiency. ..
  52. Messmer E, Kenyon K, Rittinger O, Janecke A, Kampik A. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology. 2005;112:e1-6 pubmed
    ..Lid abnormalities, corneal surface instability, limbal stem cell deficiency with resulting corneal complications, and dry eye are the main ocular manifestations. ..
  53. Stadler S, Polanetz R, Maier E, Heidenreich S, Niederer B, Mayerhofer P, et al. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat. 2006;27:748-59 pubmed
  54. Hölzel M, Rohrmoser M, Orban M, Hömig C, Harasim T, Malamoussi A, et al. Rapid conditional knock-down-knock-in system for mammalian cells. Nucleic Acids Res. 2007;35:e17 pubmed
    ..Thus, our system is suitable to exclude off-target effects and to functionally analyze mutants in cells depleted for the endogenous protein. ..
  55. Toth B, Vocke F, Rogenhofer N, Friese K, Thaler C, Lohse P. Paternal thrombophilic gene mutations are not associated with recurrent miscarriage. Am J Reprod Immunol. 2008;60:325-32 pubmed publisher
    ..Men of the control group showed an even higher incidence of the PT and MTHFR mutations. Abortions in the embryonic phase of fetal development were associated with a significantly higher incidence of maternal heterozygosity for FVL. ..
  56. 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. ..
  57. Haferlach T, Nagata Y, Grossmann V, Okuno Y, Bacher U, Nagae G, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014;28:241-7 pubmed publisher
    ..001 each). Thus, large-scale genetic and molecular profiling of multiple target genes is invaluable for subclassification and prognostication in MDS patients. ..
  58. Strupp M, Zwergal A, Brandt T. Episodic ataxia type 2. Neurotherapeutics. 2007;4:267-73 pubmed
    ..Many aspects of the pathophysiology (e.g., induction of the attacks) and treatment of EA 2 (e.g., mode of action of ACTZ and 4-AP) still remain unclear and need to be addressed in further animal and clinical studies. ..
  59. Baars C, Leeb T, von Klopmann T, Tipold A, Potschka H. Allele-specific polymerase chain reaction diagnostic test for the functional MDR1 polymorphism in dogs. Vet J. 2008;177:394-7 pubmed
    ..Based on this validation, the allele-specific PCR proved to be a robust, reproducible and specific tool, allowing rapid determination of the MDR1 genotype of dogs of at risk breeds using blood samples or buccal swabs. ..
  60. Weidinger S, O Sullivan M, Illig T, Baurecht H, Depner M, Rodriguez E, et al. Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol. 2008;121:1203-1209.e1 pubmed publisher
  61. 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. ..
  62. Haack T, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls T, et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2013;93:211-23 pubmed publisher
    ..Complementation experiments in mutant cell lines restored RNA processing and a yeast model provided additional evidence for the disease-causal role of defective ELAC2, thereby linking mtRNA processing to human disease. ..
  63. Natera de Benito D, Bestué M, Vilchez J, Evangelista T, Töpf A, García 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. ..
  64. Rosenberg J, Hoffman Censits J, Powles T, Van Der Heijden M, Balar A, Necchi A, et al. Atezolizumab in patients with locally advanced and metastatic urothelial carcinoma who have progressed following treatment with platinum-based chemotherapy: a single-arm, multicentre, phase 2 trial. Lancet. 2016;387:1909-20 pubmed publisher
    ..F Hoffmann-La Roche Ltd. ..
  65. Pihusch R, Buchholz T, Lohse P, Rubsamen H, Rogenhofer N, Hasbargen U, et al. Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester. Am J Reprod Immunol. 2001;46:124-31 pubmed
    ..027, OR 8.5). In contrast to the other mutations and polymorphisms, heterozygous PTM is more common in patients with abortions in the first trimester. This might reflect an influence of PTM on pathogenesis of early pregnancy loss. ..
  66. Capell A, Liebscher S, Fellerer K, Brouwers N, Willem M, Lammich S, et al. Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase. J Neurosci. 2011;31:1885-94 pubmed publisher
    ..Thus, alkalizing reagents, specifically those already used in humans for other applications, and vacuolar ATPase inhibitors may be therapeutically used to prevent GRN-dependent neurodegeneration. ..
  67. Grossmann V, Schnittger S, Kohlmann A, Eder C, Roller A, Dicker F, et al. A novel hierarchical prognostic model of AML solely based on molecular mutations. Blood. 2012;120:2963-72 pubmed publisher
    ..9%); and (5) very unfavorable: TP53 mutation (n = 80; OS at 3 years: 0%; P < .001). This comprehensive molecular characterization provides a more powerful model for prognostication than cytogenetics. ..
  68. Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen H, Lichtenauer U, et al. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet. 2013;45:440-4, 444e1-2 pubmed publisher
    ..In summary, dominant somatic alterations in two members of the ATPase gene family result in autonomous aldosterone secretion. ..
  69. Fasan A, Haferlach C, Alpermann T, Jeromin S, Grossmann V, Eder C, et al. The role of different genetic subtypes of CEBPA mutated AML. Leukemia. 2014;28:794-803 pubmed publisher
    ..020). Outcome in CEBPAsm cases strongly depended on concurrent FLT3-ITD. In conclusion, we propose that only CEBPAdm should be considered as an entity in the WHO classification of AML and should be clearly distinguished from CEBPAsm AML. ..
  70. Kazdal D, Harms A, Endris V, Penzel R, Kriegsmann M, Eichhorn F, et al. Prevalence of somatic mitochondrial mutations and spatial distribution of mitochondria in non-small cell lung cancer. Br J Cancer. 2017;117:220-226 pubmed publisher
    ..Non-evident somatic mitochondrial mutations and highly varying mitochondrial DNA level delineate challenges for the approach of mitochondria-targeted anticancer therapies in NSCLC. ..
  71. Urschel S, Bassermann F, Bai R, Münch S, Peschel C, Duyster J. Phosphorylation of grb10 regulates its interaction with 14-3-3. J Biol Chem. 2005;280:16987-93 pubmed
    ..Based on these findings, we propose a regulatory circuitry involving a phosphorylation-regulated complex formation of Grb10 with 14-3-3 and Akt. ..
  72. Mueller Koch Y, Vogelsang H, Kopp R, Lohse P, Keller G, Aust D, et al. Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer. Gut. 2005;54:1733-40 pubmed
    ..These data show that HNPCC includes at least two entities with clinical and molecular differences. This will have implications for surveillance programmes and for cancer research. ..
  73. Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz C, et al. A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). J Med Genet. 2004;41:679-83 pubmed
    ..Our finding indicates that a protein, possibly associated with ribosomal stability, can be linked to X linked mental retardation (XLMR). ..
  74. Rastelli J, Hömig Hölzel C, Seagal J, Muller W, Hermann A, Rajewsky K, et al. LMP1 signaling can replace CD40 signaling in B cells in vivo and has unique features of inducing class-switch recombination to IgG1. Blood. 2008;111:1448-55 pubmed
    ..Thus, our data indicate that LMP1 has evolved to imitate T-helper cell function allowing activation, proliferation, and differentiation of EBV-infected B cells independent of T cells. ..
  75. Morak M, Schackert H, Rahner N, Betz B, Ebert M, Walldorf C, et al. Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. Eur J Hum Genet. 2008;16:804-11 pubmed publisher
  76. Blum M, Chen J. Structural characterization of the catalytic calcium-binding site in diisopropyl fluorophosphatase (DFPase)--comparison with related beta-propeller enzymes. Chem Biol Interact. 2010;187:373-9 pubmed publisher
    ..Surprisingly, despite low sequence identity, these proteins share remarkably similar calcium-binding environments to DFPase. ..
  77. Sims R, Rojas L, Beck D, Bonasio R, Schüller R, Drury W, et al. The C-terminal domain of RNA polymerase II is modified by site-specific methylation. Science. 2011;332:99-103 pubmed publisher
    ..These results demonstrate that CTD methylation facilitates the expression of select RNAs, perhaps serving to discriminate the RNAPII-associated machinery recruited to distinct gene types. ..
  78. Lieber M, Kallinich T, Lohse P, Klotsche J, Holzinger D, Foell D, et al. Increased serum concentrations of neutrophil-derived protein S100A12 in heterozygous carriers of MEFV mutations. Clin Exp Rheumatol. 2015;33:S113-6 pubmed
    ..Possibly, S100A12 could be a prognostic biomarker to detect individuals at risk of FMF manifestation who might benefit from colchicine therapy. ..
  79. Büscher 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. ..
  80. Holzinger A, Maier E, Stockler Ipsiroglu S, Braun A, Roscher A. Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene. Clin Genet. 1998;53:482-7 pubmed
    ..If the Q672X mutation leads in fact to an unstable translation product this would be consistent with the hypothesis that the C-terminus is crucial for ALDP stability...
  81. Heimpel S, Basset G, Odoy S, Klingenberg M. Expression of the mitochondrial ADP/ATP carrier in Escherichia coli. Renaturation, reconstitution, and the effect of mutations on 10 positive residues. J Biol Chem. 2001;276:11499-506 pubmed
    ..Comparison to the homologous mutants of yeast AAC2 permits attribution of the roles of these residues more to ADP/ATP transport or to AAC import into mitochondria. ..
  82. Garcia Martin A, Kwa L, Strohmann B, Robert B, Holzwarth A, Braun P. Structural role of (bacterio)chlorophyll ligated in the energetically unfavorable beta-position. J Biol Chem. 2006;281:10626-34 pubmed
  83. Rohde F, Rimkus C, Friederichs J, Rosenberg R, Marthen C, Doll D, et al. Expression of osteopontin, a target gene of de-regulated Wnt signaling, predicts survival in colon cancer. Int J Cancer. 2007;121:1717-23 pubmed
    ..Thus, OPN is a transcriptional target of aberrant Wnt signaling, and OPN expression alone predicts survival in human colon cancer. ..
  84. Deshpande A, Pastore A, Deshpande A, Zimmermann Y, Hutter G, Weinkauf M, et al. 3'UTR mediated regulation of the cyclin D1 proto-oncogene. Cell Cycle. 2009;8:3592-600 pubmed
  85. Winkler E, Kamp F, Scheuring J, Ebke A, Fukumori A, Steiner H. Generation of Alzheimer disease-associated amyloid ?42/43 peptide by ?-secretase can be inhibited directly by modulation of membrane thickness. J Biol Chem. 2012;287:21326-34 pubmed publisher
    ..Our data demonstrate an effective modulation of ?-secretase activity by membrane thickness, which may provide an approach to lower the generation of the pathogenic A?(42/43) species. ..
  86. Haass C, Kaether C, Thinakaran G, Sisodia S. Trafficking and proteolytic processing of APP. Cold Spring Harb Perspect Med. 2012;2:a006270 pubmed publisher
    ..Furthermore, we illuminate how neuronal activity and mutations which cause familial Alzheimer disease affect amyloid ?-peptide generation and therefore disease onset and progression. ..
  87. Polzer H, Janke H, Schmid D, Hiddemann W, Spiekermann K. Casitas B-lineage lymphoma mutants activate AKT to induce transformation in cooperation with class III receptor tyrosine kinases. Exp Hematol. 2013;41:271-80.e4 pubmed publisher
    ..This study reveals FLT3-CBL interaction sites and the AKT pathway as critical mediators of transformation by oncogenic CBL mutants. ..
  88. 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. ..
  89. Cejuela J, Bojchevski A, Uhlig C, Bekmukhametov R, Kumar Karn S, Mahmuti S, et al. nala: text mining natural language mutation mentions. Bioinformatics. 2017;33:1852-1858 pubmed publisher
    ..For NL mentions the corresponding value shot up to 100% nala -only. Source code, API and corpora freely available at: . Supplementary data are available at Bioinformatics online. ..
  90. Dovey O, Cooper J, Mupo A, Grove C, Lynn C, Conte N, et al. Molecular synergy underlies the co-occurrence patterns and phenotype of NPM1-mutant acute myeloid leukemia. Blood. 2017;130:1911-1922 pubmed publisher
  91. Maas R, Iwanicka Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al Owain M, et al. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017;82:1004-1015 pubmed publisher
    ..MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004-1015. ..
  92. Laux H, Tomer R, Mader M, Smida J, Budczies J, Kappler R, et al. Tumor-associated E-cadherin mutations do not induce Wnt target gene expression, but affect E-cadherin repressors. Lab Invest. 2004;84:1372-86 pubmed
    ..In conclusion, E-cadherin mutations have no influence on expression of genes involved in Wnt-signaling, but they may promote their own expression by blocking upregulation of E-cadherin repressors. ..