Experts and Doctors on mutation in Berlin, Germany


Locale: Berlin, Germany
Topic: mutation

Top Publications

  1. Voigt I, Camacho S, de Boer B, Lipp M, Forster R, Berek C. CXCR5-deficient mice develop functional germinal centers in the splenic T cell zone. Eur J Immunol. 2000;30:560-7 pubmed
    ..However, within the T cell zone a micro-environment is built up, which provides all requirements needed for the affinity maturation to take place. ..
  2. Schmidt Ullrich R, Aebischer T, Hülsken J, Birchmeier W, Klemm U, Scheidereit C. Requirement of NF-kappaB/Rel for the development of hair follicles and other epidermal appendices. Development. 2001;128:3843-53 pubmed
    ..Furthermore, NF-kappaB is required for peripheral lymph node formation and macrophage function. ..
  3. Hauptmann S. A thermodynamic interpretation of malignancy: do the genes come later?. Med Hypotheses. 2002;58:144-7 pubmed
    ..Cancer could be seen as a reaction of a cell to entrap energy which reduces entropy, or, in other words, cancer may best be regarded as entropic devolution. ..
  4. van Bömmel F, Zollner B, Sarrazin C, Spengler U, Hüppe D, Moller B, et al. Tenofovir for patients with lamivudine-resistant hepatitis B virus (HBV) infection and high HBV DNA level during adefovir therapy. Hepatology. 2006;44:318-25 pubmed
    ..No side effects were reported. In conclusion, these preliminary observations strongly suggest that TDF might be a highly effective rescue drug for HBV-infected patients with altered responsiveness to treatment with lamivudine and ADV. ..
  5. Vasyutina E, Lenhard D, Wende H, Erdmann B, Epstein J, Birchmeier C. RBP-J (Rbpsuh) is essential to maintain muscle progenitor cells and to generate satellite cells. Proc Natl Acad Sci U S A. 2007;104:4443-8 pubmed
    ..In addition, satellite cells are not formed late in fetal development in conditional RBP-J mutant mice. We conclude that RBP-J is required in the developing muscle to set aside proliferating progenitors and satellite cells...
  6. Tsunoda S, Hegemann P. Glu 87 of channelrhodopsin-1 causes pH-dependent color tuning and fast photocurrent inactivation. Photochem Photobiol. 2009;85:564-9 pubmed publisher
    ..We propose a trimodal counter ion complex for ChR1 but only a bimodal complex for ChR2. ..
  7. Pfeiffer V, Papenfort K, Lucchini S, Hinton J, Vogel J. Coding sequence targeting by MicC RNA reveals bacterial mRNA silencing downstream of translational initiation. Nat Struct Mol Biol. 2009;16:840-6 pubmed publisher
    ..The discovery of CDS targeting markedly expands the sequence space for sRNA target predictions in bacteria. ..
  8. Heidenhain C, Puhl G, Moench C, Lautem A, Neuhaus P. Chemokine receptor 5Delta32 mutation reduces the risk of acute rejection in liver transplantation. Ann Transplant. 2009;14:36-44 pubmed
    ..Only wild-type patients experienced more than one rejection episode. Patients with the Delta32-mutation might be candidates for a minimized immunosuppressive therapy. CCR-5 could be relevant as a target for a new therapeutic approach. ..
  9. Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Hohne W, Tinschert S, et al. Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. Am J Med Genet A. 2010;152A:870-4 pubmed publisher
    ..These additional cases and the associated mutations contribute to an improved appreciation of the variability of this rare skeletal dysplasia. (c) 2010 Wiley-Liss, Inc...

More Information

Publications254 found, 100 shown here

  1. Maurer M, Hoffmann K, Sperling K, Varon R. High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany. J Appl Genet. 2010;51:211-4 pubmed
    ..657-661del5 mutation in Bavaria (similar to frequencies of this mutation in various Eastern European countries) to a high percentage of people of Slavic origin in Northeast Bavaria. ..
  2. Rocha P, Scholze M, Bleiss W, Schrewe H. Med12 is essential for early mouse development and for canonical Wnt and Wnt/PCP signaling. Development. 2010;137:2723-31 pubmed publisher
    ..In agreement with this, embryos that are incapable of Med12 expression failed to establish the anterior visceral endoderm or activate brachyury expression, and did not complete gastrulation. ..
  3. Meunier D, Patra K, Smits R, Hägebarth A, Lüttges A, Jaussi R, et al. Expression analysis of proline rich 15 (Prr15) in mouse and human gastrointestinal tumors. Mol Carcinog. 2011;50:8-15 pubmed publisher
  4. Tantawy S, Lin L, Akkurt I, Borck G, Klingmuller D, Hauffa B, et al. Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. Eur J Endocrinol. 2012;167:125-30 pubmed publisher
    ..As progressive gonadal dysgenesis is likely, gonadal function should be monitored in adolescence and adulthood, and early sperm cryopreservation considered in male patients if possible. ..
  5. Doelken S, Kohler S, Mungall C, Gkoutos G, Ruef B, Smith C, et al. Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis Model Mech. 2013;6:358-72 pubmed publisher
  6. Wardemann H, Kofer J. Expression cloning of human B cell immunoglobulins. Methods Mol Biol. 2013;971:93-111 pubmed publisher
    ..The strategy may be used to obtain information on the clonal evolution of B cell lymphomas by single cell Ig gene sequencing and on the antibody reactivity of human lymphoma B cells. ..
  7. Derichs N. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis. Eur Respir Rev. 2013;22:58-65 pubmed publisher
    ..The clinical development of ivacaftor not only represents a breakthrough in CF care but also serves as a noteworthy example of personalised medicine. ..
  8. Voss F, Ullrich F, M nch J, Lazarow K, Lutter D, Mah N, et al. Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC. Science. 2014;344:634-8 pubmed publisher
    ..Our work shows that VRAC defines a class of anion channels, suggests that VRAC is identical to the volume-sensitive organic osmolyte/anion channel VSOAC, and explains the heterogeneity of native VRAC currents...
  9. Achleitner M, Kleefisch M, Hennig A, Peschke K, Polikarpova A, Oertel R, et al. Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs. J Immunol. 2017;199:2261-2269 pubmed publisher
    ..Our data do not support the concept of retroelement-derived cDNA as key triggers of systemic autoimmunity in Trex1-deficient humans and mice and motivate the continuing search for the pathogenic IFN-inducing Trex1 substrate. ..
  10. Holz A, Schaefer C, Gille H, Jueterbock W, Messer W. Mutations in the DnaA binding sites of the replication origin of Escherichia coli. Mol Gen Genet. 1992;233:81-8 pubmed
    ..Binding of DnaA protein to a mutated DnaA box R1 was not affected by a mutation in DnaA box R4 and vice versa. Mutations in DnaA boxes R1 and R4 did not modify the ability of the DnaA protein to bind to other DnaA boxes in oriC. ..
  11. Schuelke M, Mayatepek E, Inter M, Becker M, Pfeiffer E, Speer A, et al. Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. J Pediatr. 1999;134:240-4 pubmed
    ..After initiation of high-dosage alpha-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. Neurologic recovery, however, was slow and incomplete. ..
  12. Emmerich F, Meiser M, Hummel M, Demel G, Foss H, Jundt F, et al. Overexpression of I kappa B alpha without inhibition of NF-kappaB activity and mutations in the I kappa B alpha gene in Reed-Sternberg cells. Blood. 1999;94:3129-34 pubmed
    ..The demonstrated constitutive overexpression of IkappaBalpha in HRS cells evidences a deregulation of the NF-kappaB/IkappaB system also in the remaining cases, probably due to defects in other members of the IkappaB family. ..
  13. Schwabe G, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen Kaesbach G, et al. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet. 2000;67:822-31 pubmed
    ..The BDB phenotype, as well as the location and the nature of the BDB mutations, suggests a specific mutational effect that cannot be explained by simple haploinsufficiency and that is distinct from that in Robinow syndrome...
  14. Endrikat J, Noah M, Gerlinger C, Bannemerschult R, Junge W, Ruebig A, et al. Impact of oral contraceptive use on APC-resistance: a prospective, randomized clinical trial with three low-dose preparations. Contraception. 2001;64:217-22 pubmed
    ..The results of APC screening tests should have, at present, no impact on contraceptive counseling because the predictive value for thromboembolic risk of the test results and even the mutant status is low. ..
  15. Tinschert S, Stein A, Göldner B, Dietel M, Happle R. Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea). Eur J Dermatol. 2003;13:21-4 pubmed
    ..If this concept holds true, the present case may be described as " didymosis melorheosebacea "...
  16. Hennies H, Rauch A, Seifert W, Schumi C, Moser E, Al Taji E, et al. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet. 2004;75:138-45 pubmed
    ..The identification of novel mutations in COH1 in an ethnically diverse group of patients demonstrates extensive allelic heterogeneity and explains the intriguing clinical variability in Cohen syndrome. ..
  17. Hetfeld B, Helfrich A, Kapelari B, Scheel H, Hofmann K, Guterman A, et al. The zinc finger of the CSN-associated deubiquitinating enzyme USP15 is essential to rescue the E3 ligase Rbx1. Curr Biol. 2005;15:1217-21 pubmed
    ..In summary, a functional Zn finger of USP15 is needed to maintain a conformation essential for disassembling poly-Ub chains, a prerequisite for rescuing the E3 ligase Rbx1. ..
  18. Korr D, Toschi L, Donner P, Pohlenz H, Kreft B, Weiss B. LRRK1 protein kinase activity is stimulated upon binding of GTP to its Roc domain. Cell Signal. 2006;18:910-20 pubmed
    ..Ultimately, the results presented for LRRK1 may contribute to the elucidation of LRRK2's role in the pathogenesis of Parkinson's disease. ..
  19. Koziel L, Wuelling M, Schneider S, Vortkamp A. Gli3 acts as a repressor downstream of Ihh in regulating two distinct steps of chondrocyte differentiation. Development. 2005;132:5249-60 pubmed
    ..Furthermore, by regulating distal chondrocyte differentiation, Gli3 seems to position the domain of PTHrP expression. ..
  20. Hammer E, Heilbronn R, Weger S. The E3 ligase Topors induces the accumulation of polysumoylated forms of DNA topoisomerase I in vitro and in vivo. FEBS Lett. 2007;581:5418-24 pubmed
    ..Experiments with TOP1 point mutants strongly suggest that the high-molecular weight conjugates represent SUMO-1 chains formed on a limited number of SUMO-1 acceptor sites. ..
  21. Weiss B. ROCO kinase activity is controlled by internal GTPase function. Sci Signal. 2008;1:pe27 pubmed publisher
  22. Richter U, Kuhn K, Okada S, Brennicke A, Weihe A, Börner T. A mitochondrial rRNA dimethyladenosine methyltransferase in Arabidopsis. Plant J. 2010;61:558-69 pubmed publisher
    ..These data provide evidence: (i) for rRNA methylation in Arabidopsis mitochondria; and (ii) that Dim1B is the enzyme catalyzing this process. ..
  23. Heidenreich M, Lechner S, Vardanyan V, Wetzel C, Cremers C, De Leenheer E, et al. KCNQ4 K(+) channels tune mechanoreceptors for normal touch sensation in mouse and man. Nat Neurosci. 2011;15:138-45 pubmed publisher
    ..This work describes a gene mutation that modulates touch sensitivity in mice and humans and establishes KCNQ4 as a specific molecular marker for rapidly adapting Meissner and a subset of hair follicle afferents...
  24. Krabbe G, Halle A, Matyash V, Rinnenthal J, Eom G, Bernhardt U, et al. Functional impairment of microglia coincides with Beta-amyloid deposition in mice with Alzheimer-like pathology. PLoS ONE. 2013;8:e60921 pubmed publisher
    ..These data suggest that major microglial functions progressively decline in Alzheimer's disease with the appearance of A? plaques, and that this functional impairment is reversible by lowering A? burden, e.g. by means of A? vaccination. ..
  25. Vogt A, Wietek J, Hegemann P. Gloeobacter rhodopsin, limitation of proton pumping at high electrochemical load. Biophys J. 2013;105:2055-63 pubmed publisher
    ..The advantage of such a low pK(a) is an acceleration of the photocycle and high pump turnover at high light intensities. ..
  26. Hagl B, Heinz V, Schlesinger A, Spielberger B, Sawalle Belohradsky J, Senn Rauh M, et al. Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children. Pediatr Allergy Immunol. 2016;27:177-84 pubmed publisher
    ..Differentiating HIES from other diseases such as atopic dermatitis early in life is essential for patients because treatment modalities differ. To expedite the diagnosis process, we propose here a diagnostic workflow. ..
  27. Lambert Niclot S, George E, Pozniak A, White E, Schwimmer C, Jessen H, et al. Antiretroviral resistance at virological failure in the NEAT 001/ANRS 143 trial: raltegravir plus darunavir/ritonavir or tenofovir/emtricitabine plus darunavir/ritonavir as first-line ART. J Antimicrob Chemother. 2016;71:1056-62 pubmed publisher
    ..5% (mostly IN mutations) in the raltegravir plus darunavir/ritonavir NRTI-sparing regimen. The cumulative risk of IN RAM after 96 weeks of follow-up in participants initiating ART with raltegravir plus darunavir/ritonavir was 3.9%. ..
  28. Gottlieb A, Althoff K, Grunewald L, Thor T, Odersky A, Schulte M, et al. RITA displays anti-tumor activity in medulloblastomas independent of TP53 status. Oncotarget. 2017;8:27882-27891 pubmed publisher
  29. Neifer S, Jung A, Bienzle U. Characterization of erythrocytic glucose-6-phosphate dehydrogenase in a mouse strain with reduced G6PD activity. Biomed Biochim Acta. 1991;50:233-8 pubmed
  30. Golembowski S, Gellrich S, von Zimmermann M, Rutz S, Lippert S, Audring H, et al. Clonal evolution in a primary cutaneous follicle center B cell lymphoma revealed by single cell analysis in sequential biopsies. Immunobiology. 2000;201:631-44 pubmed
    ..To draw this conclusion from single cell PCR data, however, a sample of sequential biopsies had to be analyzed. ..
  31. Fujita Y, Krause G, Scheffner M, Zechner D, Leddy H, Behrens J, et al. Hakai, a c-Cbl-like protein, ubiquitinates and induces endocytosis of the E-cadherin complex. Nat Cell Biol. 2002;4:222-31 pubmed
    ..Through dynamic recycling of E-cadherin, Hakai can thus modulate cell adhesion, and could participate in the regulation of epithelial--mesenchymal transitions in development or metastasis. ..
  32. Alken M, Rutz C, Köchl R, Donalies U, Oueslati M, Furkert J, et al. The signal peptide of the rat corticotropin-releasing factor receptor 1 promotes receptor expression but is not essential for establishing a functional receptor. Biochem J. 2005;390:455-64 pubmed
    ..Thus the signal peptide of the CRF-R1 promotes an early step of receptor biogenesis, such as targeting of the nascent chain to the ER membrane and/or the gating of the protein-conducting translocon of the ER membrane. ..
  33. Knobeloch K, Utermöhlen O, Kisser A, Prinz M, Horak I. Reexamination of the role of ubiquitin-like modifier ISG15 in the phenotype of UBP43-deficient mice. Mol Cell Biol. 2005;25:11030-4 pubmed
    ..Presented results clearly demonstrate that the phenotypic alterations of UBP43(-/-) mice are not caused by the lack of ISG15 deconjugation and must be due to another, non-ISG15-mediated molecular mechanism. ..
  34. Röwer S, Bienzle U, Weise A, Lambertz U, Forst T, Otchwemah R, et al. Short communication: high prevalence of the cytochrome P450 2C8*2 mutation in Northern Ghana. Trop Med Int Health. 2005;10:1271-3 pubmed
    ..We did not detect CYP2C8*3 and CYP2C8*4, but CYP2C8*2 showed an allele frequency of 0.1675. AQ metabolism in patients with CYP2C8*2 may be impaired, and with an increase of AQ based treatment the risk of severe adverse events may mount. ..
  35. Munch C, Meyer R, Linke P, Meyer T, Ludolph A, Haas J, et al. The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis. Acta Neurol Scand. 2007;116:231-4 pubmed
    ..The results indicate that the DCTN1 gene is probably not influencing susceptibility to neurodegeneration in MS. ..
  36. Posch M, Perrot A, Geier C, Boldt L, Schmidt G, Lehmkuhl H, et al. Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. Heart Rhythm. 2009;6:480-6 pubmed publisher
    ..All adults harboring PLN-R14Del had attenuated R waves irrespective of echocardiographic abnormalities. The study findings suggest a mutation-related remodeling process preceding ventricular dysfunction. ..
  37. Vidigal J, Morkel M, Wittler L, Brouwer Lehmitz A, Grote P, Macura K, et al. An inducible RNA interference system for the functional dissection of mouse embryogenesis. Nucleic Acids Res. 2010;38:e122 pubmed publisher
    ..Taken together, the system allows the dissection of gene function at unprecedented detail and speed, and provides tight control of the genetic background minimizing intrinsic variation. ..
  38. Hobiger K, Utesch T, Mroginski M, Friedrich T. Coupling of Ci-VSP modules requires a combination of structure and electrostatics within the linker. Biophys J. 2012;102:1313-22 pubmed publisher
    ..This provides the first insight (to our knowledge) into the direct intervention of the linker in the VSD-PD coupling process...
  39. Finkenwirth F, Kirsch F, Eitinger T. Solitary BioY proteins mediate biotin transport into recombinant Escherichia coli. J Bacteriol. 2013;195:4105-11 pubmed publisher
    ..The results underscore that solitary BioY transports biotin across the cytoplasmic membrane. ..
  40. Mehnert M, Sommer T, Jarosch E. Der1 promotes movement of misfolded proteins through the endoplasmic reticulum membrane. Nat Cell Biol. 2014;16:77-86 pubmed publisher
    ..Our data imply that Der1 initiates the export of aberrant polypeptides from the ER lumen by threading such molecules into the ER membrane and routing them to Hrd1 for ubiquitylation. ..
  41. Hoehn T, Lukacs Z, Huckenbeck W, Torresani T, Blankenstein O, Bounnack S. Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant. J Trop Pediatr. 2016;62:158-60 pubmed publisher
    ..We speculate that in CAH, remaining enzyme activity can be sufficiently high, despite the presence of loss of function mutations, which do not affect infants clinically. ..
  42. Riemer P, Rydenfelt M, Marks M, van Eunen K, Thedieck K, Herrmann B, et al. Oncogenic β-catenin and PIK3CA instruct network states and cancer phenotypes in intestinal organoids. J Cell Biol. 2017;216:1567-1577 pubmed publisher
    ..Our work defines phenotypes, signaling network states, and vulnerabilities of transgenic intestinal organoids as a novel approach to understanding oncogene activities and guiding the development of targeted therapies. ..
  43. Kaufmann J, Krause B, Grimm C, Ritter E, Hegemann P, Bartl F. Proton transfer reactions in the red light-activatable channelrhodopsin variant ReaChR and their relevance for its function. J Biol Chem. 2017;292:14205-14216 pubmed publisher
    ..This suggests that the peak current is formed by 15-anti species, whereas 15-syn species contribute only to the stationary current. ..
  44. Northcott P, Buchhalter I, Morrissy A, Hovestadt V, Weischenfeldt J, Ehrenberger T, et al. The whole-genome landscape of medulloblastoma subtypes. Nature. 2017;547:311-317 pubmed publisher
  45. Kunze D, Melzer I, Bennett D, Sanglard D, MacCallum D, Nörskau J, et al. Functional analysis of the phospholipase C gene CaPLC1 and two unusual phospholipase C genes, CaPLC2 and CaPLC3, of Candida albicans. Microbiology. 2005;151:3381-94 pubmed
    ..These data suggest that C. albicans contains two different classes of phospholipases C which are involved in cellular processes but which have no specific functions in pathogenicity. ..
  46. Munch C, Rosenbohm A, Sperfeld A, Uttner I, Reske S, Krause B, et al. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol. 2005;58:777-80 pubmed
    ..We excluded the involvement of the ALS and FTD-linked genes for copper/zinc superoxide dismutase (SOD1) and tau. The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD. ..
  47. Witte C, Rosso M, Romeis T. Identification of three urease accessory proteins that are required for urease activation in Arabidopsis. Plant Physiol. 2005;139:1155-62 pubmed
  48. Barembruch C, Hengge R. Cellular levels and activity of the flagellar sigma factor FliA of Escherichia coli are controlled by FlgM-modulated proteolysis. Mol Microbiol. 2007;65:76-89 pubmed
    ..Experiments with a lon mutant indicate that Lon protease and FliA degradation maintain appropriate FliA : FlgM stoichiometry upon induction of the flagellar system and thereby contribute to timely shut-off of this system. ..
  49. Weichert W, Schewe C, Lehmann A, Sers C, Denkert C, Budczies J, et al. KRAS genotyping of paraffin-embedded colorectal cancer tissue in routine diagnostics: comparison of methods and impact of histology. J Mol Diagn. 2010;12:35-42 pubmed publisher
  50. Kleinau G, Jaeschke H, Worth C, Mueller S, Gonzalez J, Paschke R, et al. Principles and determinants of G-protein coupling by the rhodopsin-like thyrotropin receptor. PLoS ONE. 2010;5:e9745 pubmed publisher
  51. Engel K, Schultz H, Martin F, Kotlyarov A, Plath K, Hahn M, et al. Constitutive activation of mitogen-activated protein kinase-activated protein kinase 2 by mutation of phosphorylation sites and an A-helix motif. J Biol Chem. 1995;270:27213-21 pubmed
    ..These data suggest a dual mechanism of MAPKAP kinase 2 activation by phosphorylation of Thr-205 inside the catalytic domain and by phosphorylation of Thr-317 outside the catalytic domain involving an autoinhibitory A-helix motif. ..
  52. Witt H, Luck W, Hennies H, Classen M, Kage A, Lass U, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet. 2000;25:213-6 pubmed
    ..In 18 patients, 6 of whom were homozygous, we detected a missense mutation of codon 34 (N34S). We also found four other sequence variants. Our results indicate that mutations in SPINK1 are associated with chronic pancreatitis. ..
  53. Demuth I, Wlodarski M, Tipping A, Morgan N, de Winter J, Thiel M, et al. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet. 2000;8:861-8 pubmed
    ..A putative missense mutation, L71P, in a possible leucine zipper motif may affect FANCG binding of FANCA and seems to be associated with a milder clinical phenotype. ..
  54. Schmidt H, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge U, et al. Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. J Clin Endocrinol Metab. 2001;86:2289-95 pubmed
    ..In conclusion, dyslipemia is an early and prominent feature in the presented lipodystrophic family carrying the R482W mutation within LMNA. ..
  55. Leheste J, Melsen F, Wellner M, Jansen P, Schlichting U, Renner Müller I, et al. Hypocalcemia and osteopathy in mice with kidney-specific megalin gene defect. FASEB J. 2003;17:247-9 pubmed
    ..These features are consistent with osteomalacia (softening of the bones) as a consequence of hypovitaminosis D and demonstrate the crucial importance of the megalin pathway for systemic calcium homeostasis and bone metabolism. ..
  56. Weger S, Hammer E, Engstler M. The DNA topoisomerase I binding protein topors as a novel cellular target for SUMO-1 modification: characterization of domains necessary for subcellular localization and sumolation. Exp Cell Res. 2003;290:13-27 pubmed
    ..One SUMO-1 acceptor site at lysine residue 560 could be identified within this region. However, sumolation-deficient Topors mutants showed that sumolation obviously is not required for localization to nuclear speckles. ..
  57. Digweed M, Sperling K. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst). 2004;3:1207-17 pubmed
    ..We review here some of the more recent findings on the NBS1 gene and discuss how they impinge on the clinical manifestation of the disease. ..
  58. Renner A, Tillack H, Kraus H, Kramer F, Mohr N, Weber B, et al. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology. 2005;112:586-92 pubmed
    ..Those manifestations may be related to a specific form of age-related macular degeneration. This article contains additional online-only material available at . ..
  59. Marenholz I, Kerscher T, Bauerfeind A, Esparza Gordillo J, Nickel R, Keil T, et al. An interaction between filaggrin mutations and early food sensitization improves the prediction of childhood asthma. J Allergy Clin Immunol. 2009;123:911-6 pubmed publisher
    ..Our findings might facilitate the development of early subgroup-specific interventions to prevent the progression from eczema to asthma. ..
  60. Kallinich T, Wittkowski H, Keitzer R, Roth J, Foell D. Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever. Ann Rheum Dis. 2010;69:677-82 pubmed publisher
    ..It might even be more sensitive in detecting subclinical inflammation than other available indicators. ..
  61. Winkler F, Kleinau G, Tarnow P, Rediger A, Grohmann L, Gaetjens I, et al. A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6. J Clin Endocrinol Metab. 2010;95:3605-10 pubmed publisher
    ..These functional data could be confirmed by reproducible findings of two siblings with a constitutive activation for both pathways. ..
  62. Sauber J, Grothe J, Behm M, Scherag A, Grallert H, Illig T, et al. Association of variants in gastric inhibitory polypeptide receptor gene with impaired glucose homeostasis in obese children and adolescents from Berlin. Eur J Endocrinol. 2010;163:259-64 pubmed publisher
    ..Variations of the GIPR sequence are not associated with childhood obesity. This study points to a potential role for rs1800437 in glucose homeostasis. Further studies are necessary to confirm these results. ..
  63. Willecke R, Heuberger J, Grossmann K, Michos O, Schmidt Ott K, Walentin K, et al. The tyrosine phosphatase Shp2 acts downstream of GDNF/Ret in branching morphogenesis of the developing mouse kidney. Dev Biol. 2011;360:310-7 pubmed publisher
    ..Apparently, Shp2 mediates not only GDNF/Ret but also signaling by other receptor tyrosine kinases in branching morphogenesis of the embryonic kidney. ..
  64. Krawitz P, Murakami Y, Hecht J, Krüger U, Holder S, Mortier G, et al. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012;91:146-51 pubmed publisher
    ..Our data identify PIGO as the second gene associated with HPMRS and suggest that a deficiency in GPI-anchor synthesis is the underlying molecular pathomechanism of HPMRS. ..
  65. Eckert J, Kim Y, Kim J, Gürtler K, Oh D, Sur S, et al. The crystal structure of lipopolysaccharide binding protein reveals the location of a frequent mutation that impairs innate immunity. Immunity. 2013;39:647-60 pubmed publisher
    ..Thus, the structural integrity of LBP may be crucial for fighting infections efficiently, and future patient stratification might help to develop better therapeutic strategies. ..
  66. 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. ..
  67. Paz Ares L, Hirsh V, Zhang L, De Marinis F, Yang J, Wakelee H, et al. Monotherapy Administration of Sorafenib in Patients With Non-Small Cell Lung Cancer (MISSION) Trial: A Phase III, Multicenter, Placebo-Controlled Trial of Sorafenib in Patients with Relapsed or Refractory Predominantly Nonsquamous Non-Small-Cell Lung. J Thorac Oncol. 2015;10:1745-53 pubmed publisher
    ..Third-/fourth-line sorafenib therapy did not significantly increase OS in patients with relapsed/refractory NSCLC, despite significantly increasing PFS. ..
  68. Stricker S, Rauschenberger V, Schambony A. ROR-Family Receptor Tyrosine Kinases. Curr Top Dev Biol. 2017;123:105-142 pubmed publisher
    ..We discuss their signaling functions and role in vertebrate embryonic development with a focus on those developmental processes that are affected by mutations in the ROR2 gene in human patients. ..
  69. Zenz T, Kreuz M, Fuge M, Klapper W, Horn H, Staiger A, et al. TP53 mutation and survival in aggressive B cell lymphoma. Int J Cancer. 2017;141:1381-1388 pubmed publisher
    ..TP53 mutations should be considered for risk models in DLBCL and strategies to improve outcome for patients with mutant TP53 must be developed. ..
  70. Erdmann J, Stark K, Esslinger U, Rumpf P, Koesling D, de Wit C, et al. Dysfunctional nitric oxide signalling increases risk of myocardial infarction. Nature. 2013;504:432-6 pubmed publisher
    ..Reversing this defect may provide a new therapeutic target for reducing the risk of myocardial infarction. ..
  71. Grüters Kieslich A, Reyes M, Sharma A, Demirci C, DeClue T, Lankes E, et al. Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes. J Clin Endocrinol Metab. 2017;102:2670-2677 pubmed publisher
    ..Importantly, GNAS methylation abnormalities escape detection by targeted or genome-wide sequencing strategies, raising the question of whether epigenetic GNAS analyses should be considered for unexplained obesity. ..
  72. Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, et al. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun. 2002;298:116-20 pubmed
    ..None of the mutations were found in 88 healthy controls and in 136 patients with hypertrophic cardiomyopathy (HCM). Thus mutations in HCM causing genes are not rare in DCM and have potential for functional relevance. ..
  73. Muller A, Kleinau G, Piechowski C, Müller T, Finan B, Pratzka J, et al. G-protein coupled receptor 83 (GPR83) signaling determined by constitutive and zinc(II)-induced activity. PLoS ONE. 2013;8:e53347 pubmed publisher
    ..Finally, our results indicate that mGPR83 forms homodimers, which extend the current knowledge and molecular facets of GPR83 signaling. ..
  74. Lammel U, Saumweber H. X-linked loci of Drosophila melanogaster causing defects in the morphology of the embryonic salivary glands. Dev Genes Evol. 2000;210:525-35 pubmed
    ..From these, 39 lines could be assigned to nine complementation groups: armadillo, brinker, folded gastrulation, giant, hindsight, Notch, runt, stardust and twisted gastrulation. ..
  75. Maier T, Strater N, Schuette C, Klingenstein R, Sandhoff K, Saenger W. The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. J Mol Biol. 2003;328:669-81 pubmed
    ..The structure reported here is a valid template also for the dimeric structures of beta-hexosaminidase A and S...
  76. Greber B, Lehrach H, Himmelbauer H. Mouse splice mutant generation from ENU-treated ES cells--a gene-driven approach. Genomics. 2005;85:557-62 pubmed
    ..The approach will be useful for the production of mouse models for human disease-related splice mutations and as a general gene disruption strategy. ..
  77. Borucki B, Kyndt J, Joshi C, Otto H, Meyer T, Cusanovich M, et al. Effect of salt and pH on the activation of photoactive yellow protein and gateway mutants Y98Q and Y98F. Biochemistry. 2005;44:13650-63 pubmed
    ..Salt binding would break the salt bridge and weaken the interaction between the two domains, facilitating the release of the N-terminal domain from the beta-scaffold in the formation of I2'...
  78. Otto H, Hoersch D, Meyer T, Cusanovich M, Heyn M. Time-resolved single tryptophan fluorescence in photoactive yellow protein monitors changes in the chromophore structure during the photocycle via energy transfer. Biochemistry. 2005;44:16804-16 pubmed
    ..The measured lifetime of 0.04 ns is in excellent agreement with predictions based on energy transfer and the X-ray structure. ..
  79. Brembs B, Christiansen F, Pflüger H, Duch C. Flight initiation and maintenance deficits in flies with genetically altered biogenic amine levels. J Neurosci. 2007;27:11122-31 pubmed
    ..These findings are consistent with a complex system of multiple amines orchestrating the control of motor behaviors on multiple levels rather than single amines eliciting single behaviors...
  80. Gramlich M, Michely B, Krohne C, Heuser A, Erdmann B, Klaassen S, et al. Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease. J Mol Cell Cardiol. 2009;47:352-8 pubmed publisher
    ..95+/-2.8% vs. 3.7+/-1.1%). Thus, this model mimics typical features of human dilated cardiomyopathy and may further our understanding of how titin mutations perturb cardiac function and remodel the heart. ..
  81. Krupková E, Schmülling T. Developmental consequences of the tumorous shoot development1 mutation, a novel allele of the cellulose-synthesizing KORRIGAN1 gene. Plant Mol Biol. 2009;71:641-55 pubmed publisher
    ..Together, the work shows that TSD1/KOR1 is required for maintaining a correct meristematic pattern and organ growth as well as for a normal hormonal response. ..
  82. Krauss S, So J, Hambrock M, Köhler A, Kunath M, Scharff C, et al. Point mutations in GLI3 lead to misregulation of its subcellular localization. PLoS ONE. 2009;4:e7471 pubmed publisher
    ..Furthermore, they provide a molecular explanation for the phenotypic overlap between Opitz syndrome patients with dysregulated PP2A-activity and syndromes caused by GLI3-mutations. ..
  83. Gerber S, Hasenbrink G, Hendriksen W, VAN Heusden P, Ludwig J, Klipp E, et al. Graphical analysis and experimental evaluation of Saccharomyces cerevisiae PTRK1|2 and PBMH1|2 promoter region. Genome Inform. 2010;22:11-20 pubmed
    ..Upon phenotypic testing one TF mutant exhibited severely impaired growth under non-permissive conditions. This TF, Mot3p was identified as of most abundant potential binding sites and distinctive patterns among the TRK promoter regions. ..
  84. Huppmann S, Lankes E, Schnabel D, Bührer C. Unimpaired postnatal respiratory adaptation in a preterm human infant with a homozygous ENaC-α unit loss-of-function mutation. J Perinatol. 2011;31:802-3 pubmed publisher
    ..He was found to be homozygous for the c.1678G>A mutation in the SCNN1A gene that codes for the ENaC-α unit. We conclude that clearance of alveolar fluid after birth in humans does not critically depend on ENaC. ..
  85. Hauser A, Sewangi J, Mbezi P, Dugange F, Lau I, Ziske J, et al. Emergence of minor drug-resistant HIV-1 variants after triple antiretroviral prophylaxis for prevention of vertical HIV-1 transmission. PLoS ONE. 2012;7:e32055 pubmed publisher
    ..Given its impact on HIV-transmission rate and drug-resistance development, HAART for all HIV-positive pregnant women should be considered. ..
  86. Bauer H, Schindler S, Charron Y, Willert J, Kusecek B, Herrmann B. The nucleoside diphosphate kinase gene Nme3 acts as quantitative trait locus promoting non-Mendelian inheritance. PLoS Genet. 2012;8:e1002567 pubmed publisher
  87. Zimmer J, Doelken S, Horn D, Groppe J, Shore E, Kaplan F, et al. Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance. PLoS ONE. 2012;7:e35062 pubmed publisher
    ..This study highlights that a given genetic variation should not be considered pathogenic unless supported by functional analyses. ..
  88. Mergenthaler P, Muselmann C, Sünwoldt J, Isaev N, Wieloch T, Dirnagl U, et al. A functional role of the cyclin-dependent kinase inhibitor 1 (p21(WAF1/CIP1)) for neuronal preconditioning. J Cereb Blood Flow Metab. 2013;33:351-5 pubmed publisher
    ..Our data suggest that balanced expression and potentially posttranslational regulation of p21(WAF1/CIP1) is required for hypoxic preconditioning. ..
  89. Kolisek M, Sponder G, Mastrototaro L, Smorodchenko A, Launay P, Vormann J, et al. Substitution p.A350V in Na?/Mg²? exchanger SLC41A1, potentially associated with Parkinson's disease, is a gain-of-function mutation. PLoS ONE. 2013;8:e71096 pubmed publisher
    ..A350V might result, in the long-term, in chronic intracellular Mg²?-deficiency, a condition that is found in various brain regions of PD patients and that exacerbates processes triggering neuronal damage. ..
  90. Okosun J, Bodor C, Wang J, Araf S, Yang C, Pan C, et al. Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma. Nat Genet. 2014;46:176-181 pubmed publisher
  91. Filges I, Bruder E, Brandal K, Meier S, Undlien D, Waage T, et al. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Hum Mutat. 2016;37:359-63 pubmed publisher
    ..2015]. We show for the first time that Strømme syndrome is an autosomal-recessive disease caused by mutations in CENPF that can result in a wide phenotypic spectrum. ..
  92. Mockenhaupt F, Ehrhardt S, Eggelte T, Agana Nsiire P, Stollberg K, Mathieu A, et al. Chloroquine-treatment failure in northern Ghana: roles of pfcrt T76 and pfmdr1 Y86. Ann Trop Med Parasitol. 2005;99:723-32 pubmed
    ..In the current transition phase to alternative first-line treatment for P. falciparum malaria, it should be possible to provide estimates of the level of CQ resistance by monitoring the prevalences of these mutations...