Experts and Doctors on mutation in Germany

Summary

Locale: Germany
Topic: mutation

Top Publications

  1. Santos Rosa H, Moreno H, Simos G, Segref A, Fahrenkrog B, Pante N, et al. Nuclear mRNA export requires complex formation between Mex67p and Mtr2p at the nuclear pores. Mol Cell Biol. 1998;18:6826-38 pubmed
    ..Thus, Mex67p and Mtr2p constitute a novel mRNA export complex which can bind to RNA via Mex67p and which interacts with nuclear pores via Mtr2p. ..
  2. Kluwe L, Mautner V. Mosaicism in sporadic neurofibromatosis 2 patients. Hum Mol Genet. 1998;7:2051-5 pubmed
    ..These findings suggest that mosaicism is relatively common in NF2 and may have important implications for diagnosis, prognosis and genetic counseling. ..
  3. Braulke T. Type-2 IGF receptor: a multi-ligand binding protein. Horm Metab Res. 1999;31:242-6 pubmed
    ..Specific alterations in the expression, activation and routing of both IGF2R and its ligands in human and rodent tumors suggest that the IGF2R functions as a tumor suppressor. ..
  4. Korsch E, Peter M, Hiort O, Sippell W, Ure B, Hauffa B, et al. Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab. 1999;84:1628-32 pubmed
    ..This is the first report on testicular morphology, at a pubertal age, in a female patient with 46,XY karyotype and a mutation in the StAR gene, in whom gonadal neoplasia had developed. ..
  5. Popanda O, Flohr T, Fox G, Thielmann H. A mutation detected in DNA polymerase delta cDNA from Novikoff hepatoma cells correlates with abnormal catalytic properties of the enzyme. J Cancer Res Clin Oncol. 1999;125:598-608 pubmed
    ..We conclude that the point mutation detected in the cDNA might be causally related to the observed changes in inhibition characteristics and copying fidelity. ..
  6. Shamsadin R, Adham I, Nayernia K, Heinlein U, Oberwinkler H, Engel W. Male mice deficient for germ-cell cyritestin are infertile. Biol Reprod. 1999;61:1445-51 pubmed
    ..These results demonstrate that cyritestin is crucial in the fertilization process at the level of the sperm-zona pellucida interaction. ..
  7. Baake M, Doenecke D, Albig W. Characterisation of nuclear localisation signals of the four human core histones. J Cell Biochem. 2001;81:333-46 pubmed
    ..We conclude that the nuclear targeting of core histones requires information conferred by the globular domain conformation. ..
  8. Pires daSilva A, Nayernia K, Engel W, Torres M, Stoykova A, Chowdhury K, et al. Mice deficient for spermatid perinuclear RNA-binding protein show neurologic, spermatogenic, and sperm morphological abnormalities. Dev Biol. 2001;233:319-28 pubmed
    ..Our findings suggest that SPNR plays an important role in normal spermatogenesis and sperm function. Thus, the Spnr(GT/GT) mutant male mouse provides a unique model for some human male infertility cases. ..
  9. Breitinger H, Villmann C, Becker K, Becker C. Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization. J Biol Chem. 2001;276:29657-63 pubmed
    ..These observations characterize the short intracellular TM1-2 loop as a regulatory domain for channel activation and a crucial mediator of glycine receptor desensitization. ..

More Information

Publications475 found, 100 shown here

  1. Dörr S, Schlicker M, Hansmann I. Genomic structure of karyopherin alpha2 ( KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome. Hum Genet. 2001;109:479-86 pubmed
    ..No disease-related mutation was identified by comparing the sequence data of the RSS patients with their clinically normal parents and controls. ..
  2. Mendel R, Hansch R. Molybdoenzymes and molybdenum cofactor in plants. J Exp Bot. 2002;53:1689-98 pubmed
    ..After insertion, xanthine dehydrogenase and aldehyde oxidase, but not nitrate reductase and sulphite oxidase, require the addition of a terminal sulphur ligand to their Mo-site, which is catalysed by the sulphur transferase ABA3. ..
  3. Baltatu O, Cayla C, Iliescu R, Andreev D, Jordan C, Bader M. Abolition of hypertension-induced end-organ damage by androgen receptor blockade in transgenic rats harboring the mouse ren-2 gene. J Am Soc Nephrol. 2002;13:2681-7 pubmed
    ..Our results indicate that androgens contribute not only to the development of hypertension, but even more importantly to end-organ damage in TGR(mREN2)27 rats. ..
  4. Kirch H, Ruschen S, Brockmann D, Esche H, Horikawa I, Barrett J, et al. Tumor-specific activation of hTERT-derived promoters by tumor suppressive E1A-mutants involves recruitment of p300/CBP/HAT and suppression of HDAC-1 and defines a combined tumor targeting and suppression system. Oncogene. 2002;21:7991-8000 pubmed
    ..Overall, hTERT promoter/E1A-Spm2 systems may turn out to be excellent tools for transcriptionally targeted anticancer gene therapy. ..
  5. Elsalini O, Rohr K. Phenylthiourea disrupts thyroid function in developing zebrafish. Dev Genes Evol. 2003;212:593-8 pubmed
    ..At doses of 0.003% PTurea, however, toxic side effects seem to be at a minimum, and the maternal contribution of the hormone might compensate for compromised thyroid function during the first days of development. ..
  6. Ogierman M, Braun V. Interactions between the outer membrane ferric citrate transporter FecA and TonB: studies of the FecA TonB box. J Bacteriol. 2003;185:1870-85 pubmed
    ..Demonstrated here for the first time is the physical interaction of TonB and FecA, which is enhanced by ferric citrate. ..
  7. Bruvo R, Michiels N, D Souza T, Schulenburg H. A simple method for the calculation of microsatellite genotype distances irrespective of ploidy level. Mol Ecol. 2004;13:2101-6 pubmed
    ..An illustration is given using data from the planarian flatworm Schmidtea polychroa (Platyhelminthes). ..
  8. Arakawa H, Saribasak H, Buerstedde J. Activation-induced cytidine deaminase initiates immunoglobulin gene conversion and hypermutation by a common intermediate. PLoS Biol. 2004;2:E179 pubmed
    ..This strongly supports a model in which AID induces a common modification in the rearranged V(D)J segment, leading to a conversion tract in the presence of nearby donor sequences and to a point mutation in their absence. ..
  9. Kambacheld M, Augustin S, Tatsuta T, Muller S, Langer T. Role of the novel metallopeptidase Mop112 and saccharolysin for the complete degradation of proteins residing in different subcompartments of mitochondria. J Biol Chem. 2005;280:20132-9 pubmed
    ..These results suggest that the turnover of mitochondrial proteins is mediated by the sequential action of ATP-dependent proteases and oligopeptidases, some of them localized in the intermembrane space. ..
  10. Reamon Buettner S, Cho S, Borlak J. Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD). BMC Med Genet. 2007;8:38 pubmed
    ..In a family, we observed c.+119A > T in the 3'-UTR associated with ASD type II. Our results suggest that somatic GATA4 mutations in the 3'-UTR may provide an additional molecular rationale for CHD. ..
  11. Nowacki S, Skowron M, Oberthuer A, Fagin A, Voth H, Brors B, et al. Expression of the tumour suppressor gene CADM1 is associated with favourable outcome and inhibits cell survival in neuroblastoma. Oncogene. 2008;27:3329-38 pubmed
    ..Collectively, our results suggest that downregulation of CADM1 tumour suppressor gene expression is a critical event in neuroblastoma pathogenesis resulting in tumour progression and unfavourable patient outcome. ..
  12. Hofmann T, Chubanov V, Chen X, Dietz A, Gudermann T, Montell C. Drosophila TRPM channel is essential for the control of extracellular magnesium levels. PLoS ONE. 2010;5:e10519 pubmed publisher
    ..These data provide the first evidence for a role for a Drosophila TRP channel in Mg2+ homeostasis, and underscore a broad and evolutionarily conserved role for TRPM channels in Mg2+ homeostasis...
  13. Matejas V, Hinkes B, Alkandari F, Al Gazali L, Annexstad E, Aytac M, et al. Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat. 2010;31:992-1002 pubmed publisher
    ..Nevertheless, genotype alone does not appear to explain the full range of clinical variability, and therefore hitherto unidentified modifiers are likely to exist. ..
  14. Hartmann L, Neveling K, Borkens S, Schneider H, Freund M, Grassman E, et al. Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs. Am J Hum Genet. 2010;87:480-93 pubmed publisher
  15. Sakthivelu V, Seidel R, Winklhofer K, Tatzelt J. Conserved stress-protective activity between prion protein and Shadoo. J Biol Chem. 2011;286:8901-8 pubmed publisher
    ..Our study reveals a conserved physiological activity between PrP(C) and Sho to protect cells from stress-induced toxicity and suggests that Sho and PrP(C) might act on similar signaling pathways. ..
  16. Kuemmerle Deschner J, Lohse P, Koetter I, Dannecker G, Reess F, Ummenhofer K, et al. NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment. Arthritis Res Ther. 2011;13:R196 pubmed publisher
    ..One patient had a severe course, which led to renal failure secondary to amyloidosis. IL-1 inhibition leads to rapid and sustained improvement of symptoms. ..
  17. Roring M, Brummer T. Aberrant B-Raf signaling in human cancer -- 10 years from bench to bedside. Crit Rev Oncog. 2012;17:97-121 pubmed
    ..We give an update on malignancies displaying high frequencies of BRAF mutations and discuss the mechanisms underlying the side effects and drug resistance phenomena associated with Raf inhibitors. ..
  18. Gröschl B, Bettstetter M, Giedl C, Woenckhaus M, Edmonston T, Hofstadter F, et al. Expression of the MAP kinase phosphatase DUSP4 is associated with microsatellite instability in colorectal cancer (CRC) and causes increased cell proliferation. Int J Cancer. 2013;132:1537-46 pubmed publisher
    ..Furthermore, DUSP4 overexpression led to increased proliferation in CRC cell lines. Our findings suggest that DUSP4 acts as an important regulator of cell growth within the MAPK pathway and causes enhanced cell growth in MSI-H CRC. ..
  19. Rolauffs S, Fackendahl P, Sahm J, Fiene G, Hoecker U. Arabidopsis COP1 and SPA genes are essential for plant elongation but not for acceleration of flowering time in response to a low red light to far-red light ratio. Plant Physiol. 2012;160:2015-27 pubmed publisher
    ..We propose that COP1/SPA activity, via LONG HYPOCOTYL IN FR LIGHT1, is required for shade-induced modulation of the auxin biosynthesis pathway and thereby enhances cell elongation in low R:FR. ..
  20. Latz A, Mehlmer N, Zapf S, Mueller T, Wurzinger B, Pfister B, et al. Salt stress triggers phosphorylation of the Arabidopsis vacuolar K+ channel TPK1 by calcium-dependent protein kinases (CDPKs). Mol Plant. 2013;6:1274-1289 pubmed publisher
  21. Lohmann K, Klein C. Genetics of dystonia: what's known? What's new? What's next?. Mov Disord. 2013;28:899-905 pubmed publisher
    ..2013 Movement Disorder Society. ..
  22. Richlitzki A, Latour P, Schwärzel M. Null EPAC mutants reveal a sequential order of versatile cAMP effects during Drosophila aversive odor learning. Learn Mem. 2017;24:210-215 pubmed publisher
    ..Thereby we show that versatile cAMP-dependent mechanisms are engaged within a sequential order that correlate to individual trials of the training session. ..
  23. Schmitt M, Neupert W, Langer T. Hsp78, a Clp homologue within mitochondria, can substitute for chaperone functions of mt-hsp70. EMBO J. 1995;14:3434-44 pubmed
    ..Thus, hsp78 can partially substitute for mt-hsp70 functions in the assembly of mitochondria and may be part of a salvage pathway if mt-hsp70 is limiting. ..
  24. Muffler A, Fischer D, Hengge Aronis R. The RNA-binding protein HF-I, known as a host factor for phage Qbeta RNA replication, is essential for rpoS translation in Escherichia coli. Genes Dev. 1996;10:1143-51 pubmed
    ..HF-I is the first factor known to be specifically involved in rpoS translation, and this role is the first cellular function to be identified for this abundant ribosome-associated RNA-binding protein in E. coli...
  25. Fuchs T, Deppisch H, Scarlato V, Gross R. A new gene locus of Bordetella pertussis defines a novel family of prokaryotic transcriptional accessory proteins. J Bacteriol. 1996;178:4445-52 pubmed
    ..pertussis indicate that the members of this new protein family may play an important role in the transcription machinery of prokaryotic organisms...
  26. Stoffel W, Boison D, Bussow H. Functional analysis in vivo of the double mutant mouse deficient in both proteolipid protein (PLP) and myelin basic protein (MBP) in the central nervous system. Cell Tissue Res. 1997;289:195-206 pubmed
    ..Neuromotor activity and coordination are considerably improved compared to the shiverer trait. ..
  27. Zähringer H, Holzer H, Nwaka S. Stability of neutral trehalase during heat stress in Saccharomyces cerevisiae is dependent on the activity of the catalytic subunits of cAMP-dependent protein kinase, Tpk1 and Tpk2. Eur J Biochem. 1998;255:544-51 pubmed
  28. Wobser H, Dussmann H, Kogel D, Wang H, Reimertz C, Wollheim C, et al. Dominant-negative suppression of HNF-1 alpha results in mitochondrial dysfunction, INS-1 cell apoptosis, and increased sensitivity to ceramide-, but not to high glucose-induced cell death. J Biol Chem. 2002;277:6413-21 pubmed
    ..Therefore, our data indicate that increased sensitivity to the mitochondrial apoptosis pathway and decreased cell proliferation may account for the progressive loss of beta-cell function seen in MODY 3 subjects. ..
  29. Meuer J, Kuettner H, Zhang J, Hedderich R, Metcalf W. Genetic analysis of the archaeon Methanosarcina barkeri Fusaro reveals a central role for Ech hydrogenase and ferredoxin in methanogenesis and carbon fixation. Proc Natl Acad Sci U S A. 2002;99:5632-7 pubmed
    ..Thus, in vivo genetic analysis has led to the identification of the electron donor of this key initial step of methanogenesis...
  30. Heck I, Schrag J, Sloan J, Millar L, Kanan G, Kinghorn J, et al. Mutational analysis of the gephyrin-related molybdenum cofactor biosynthetic gene cnxE from the lower eukaryote Aspergillus nidulans. Genetics. 2002;161:623-32 pubmed
    ..Finally, the activity of nicotinate hydroxylase, unlike that of nitrate reductase and xanthine dehydrogenase, is not restored in cnxE mutants grown in the presence of excess molybdate. ..
  31. Otto F, Lubbert M, Stock M. Upstream and downstream targets of RUNX proteins. J Cell Biochem. 2003;89:9-18 pubmed
    ..Whether a particular RUNX protein specifically targets a defined subset of downstream genes or whether there is some redundancy as to which RUNX protein activates which target promoter remains to be elucidated. ..
  32. Al Ali H, Heinrich M, Lange T, Krahl R, Mueller M, Müller C, et al. High incidence of BCR-ABL kinase domain mutations and absence of mutations of the PDGFR and KIT activation loops in CML patients with secondary resistance to imatinib. Hematol J. 2004;5:55-60 pubmed
  33. Török H, Glas J, Tonenchi L, Lohse P, Muller Myhsok B, Limbersky O, et al. Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease. Gut. 2005;54:1421-7 pubmed
  34. Haller F, Gunawan B, von Heydebreck A, Schwager S, Schulten H, Wolf Salgó J, et al. Prognostic role of E2F1 and members of the CDKN2A network in gastrointestinal stromal tumors. Clin Cancer Res. 2005;11:6589-97 pubmed
    ..Our findings implicate differential regulation schemes of the CDKN2A tumor suppressor pathway converging to up-regulation of E2F1 as the critical link to increased cell proliferation and adverse prognosis of GISTs. ..
  35. Göser S, Ottl R, Brodner A, Dengler T, Torzewski J, Egashira K, et al. Critical role for monocyte chemoattractant protein-1 and macrophage inflammatory protein-1alpha in induction of experimental autoimmune myocarditis and effective anti-monocyte chemoattractant protein-1 gene therapy. Circulation. 2005;112:3400-7 pubmed
    ..This strategy may be a new feasible form of gene therapy against autoimmune myocarditis. ..
  36. Baumgärtner M, Karst U, Gerstel B, Loessner M, Wehland J, Jänsch L. Inactivation of Lgt allows systematic characterization of lipoproteins from Listeria monocytogenes. J Bacteriol. 2007;189:313-24 pubmed
    ..It is noteworthy that in contrast to previous studies of Escherichia coli, we unambiguously demonstrated that lipidation by Lgt is not a prerequisite for activity of the lipoprotein-specific signal peptidase II (Lsp) in Listeria. ..
  37. Flügel D, Gorlach A, Michiels C, Kietzmann T. Glycogen synthase kinase 3 phosphorylates hypoxia-inducible factor 1alpha and mediates its destabilization in a VHL-independent manner. Mol Cell Biol. 2007;27:3253-65 pubmed
    ..Thus, the direct regulation of HIF-1alpha stability by GSK-3 may influence physiological processes or pathophysiological situations such as metabolic diseases or tumors. ..
  38. Neubauer B, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, et al. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology. 2008;71:177-83 pubmed publisher
    ..004). Sequence variations of the KCNQ2 and KCNQ3 genes may contribute to the etiology of common idiopathic epilepsy syndromes. ..
  39. Giesbert S, Schürg T, Scheele S, Tudzynski P. The NADPH oxidase Cpnox1 is required for full pathogenicity of the ergot fungus Claviceps purpurea. Mol Plant Pathol. 2008;9:317-27 pubmed publisher
    ..C. purpurea Nox1 is important for the interaction with its host, probably by directly affecting pathogenic differentiation of the fungus...
  40. Kayser S, Schlenk R, Londono M, Breitenbuecher F, Wittke K, Du J, et al. Insertion of FLT3 internal tandem duplication in the tyrosine kinase domain-1 is associated with resistance to chemotherapy and inferior outcome. Blood. 2009;114:2386-92 pubmed publisher
    ..The clinical trials described herein have been registered as follows: AML HD93 (already published in 2003), AML HD98A (NCT00146120; http://www.ClinicalTrials.gov), and AMLSG 07-04 (NCT00151242; http://www.ClinicalTrials.gov). ..
  41. Musante L, Kunde S, Sulistio T, Fischer U, Grimme A, Frints S, et al. Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Hum Mutat. 2010;31:90-8 pubmed publisher
    ..Our study provides significant insight into the early events contributing to the pathogenesis of the PQBP1 related XLMR disease. ..
  42. Elowe S, Dulla K, Uldschmid A, Li X, Dou Z, Nigg E. Uncoupling of the spindle-checkpoint and chromosome-congression functions of BubR1. J Cell Sci. 2010;123:84-94 pubmed publisher
  43. Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K. Digenic mutations in severe congenital neutropenia. Haematologica. 2010;95:1207-10 pubmed publisher
    ..Our results suggest that digenicity may underlie this disorder of myelopoiesis at least in some congenital neutropenia patients. ..
  44. Arin M, Oji V, Emmert S, Hausser I, Traupe H, Krieg T, et al. Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. Br J Dermatol. 2011;164:442-7 pubmed publisher
    ..Identification of novel mutations and genotype-phenotype correlations in EI allows improved understanding of disease pathogenesis as well as better patient management. ..
  45. Finke A, Kuhlmann M, Mette M. IDN2 has a role downstream of siRNA formation in RNA-directed DNA methylation. Epigenetics. 2012;7:950-60 pubmed publisher
  46. Bürmann F, Shin H, Basquin J, Soh Y, Giménez Oya V, Kim Y, et al. An asymmetric SMC-kleisin bridge in prokaryotic condensin. Nat Struct Mol Biol. 2013;20:371-9 pubmed publisher
    ..We define a molecular mechanism that ensures asymmetric assembly, and we conclude that the basic architecture of SMC-kleisin rings evolved before the emergence of eukaryotes. ..
  47. Mehrnia M, Balazadeh S, Zanor M, Mueller Roeber B. EBE, an AP2/ERF transcription factor highly expressed in proliferating cells, affects shoot architecture in Arabidopsis. Plant Physiol. 2013;162:842-57 pubmed publisher
    ..Our data indicate that the effect of EBE on shoot branching likely results from an activation of genes involved in cell cycle regulation and dormancy breaking. ..
  48. Kunzelmann K, Mehta A. CFTR: a hub for kinases and crosstalk of cAMP and Ca2+. FEBS J. 2013;280:4417-29 pubmed publisher
    ..In CF, the CFTR hub fails to form at the plasma membrane, with widespread detrimental consequences for cell signalling. ..
  49. Nitzsche R, Zagoriy V, Lucius R, Gupta N. Metabolic Cooperation of Glucose and Glutamine Is Essential for the Lytic Cycle of Obligate Intracellular Parasite Toxoplasma gondii. J Biol Chem. 2016;291:126-41 pubmed publisher
    ..gondii tachyzoites in diverse host cells. Our results also indicate a convergence of parasite metabolism with cancer cells. ..
  50. Vukotic M, Nolte H, König T, Saita S, Ananjew M, Kruger M, et al. Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. Mol Cell. 2017;67:471-483.e7 pubmed publisher
    ..The dual function of AGK as lipid kinase and constituent of the TIM22 complex reveals that disturbances in both phospholipid metabolism and mitochondrial protein biogenesis contribute to the pathogenesis of Sengers syndrome. ..
  51. Becker C, Schmieden V, Tarroni P, Strasser U, Betz H. Isoform-selective deficit of glycine receptors in the mouse mutant spastic. Neuron. 1992;8:283-9 pubmed
    ..Thus, the age-dependent manifestation of spastic symptoms after birth reflects a selective effect of the mutation on the developmental expression of the adult glycine receptor isoform. ..
  52. Winkler S, Loosli F, Henrich T, Wakamatsu Y, Wittbrodt J. The conditional medaka mutation eyeless uncouples patterning and morphogenesis of the eye. Development. 2000;127:1911-9 pubmed
    ..Temperature-shift experiments indicate a requirement for eyeless activity prior to optic vesicle evagination. Cell transplantation shows that eyeless acts cell autonomously...
  53. Andag U, Neumann T, Schmitt H. The coatomer-interacting protein Dsl1p is required for Golgi-to-endoplasmic reticulum retrieval in yeast. J Biol Chem. 2001;276:39150-60 pubmed
    ..Furthermore, we demonstrate that Dsl1p is a peripheral membrane protein, which in vitro specifically binds to coatomer, the major component of the protein coat of COPI vesicles. ..
  54. Heese M, Gansel X, Sticher L, Wick P, Grebe M, Granier F, et al. Functional characterization of the KNOLLE-interacting t-SNARE AtSNAP33 and its role in plant cytokinesis. J Cell Biol. 2001;155:239-49 pubmed
  55. Zhou Y, Dieterle M, Buche C, Kretsch T. The negatively acting factors EID1 and SPA1 have distinct functions in phytochrome A-specific light signaling. Plant Physiol. 2002;128:1098-108 pubmed
    ..These results indicate that EID1 and SPA1 are involved in different but interacting phyA-dependent signal transduction chains. ..
  56. Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, et al. Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Eur J Hum Genet. 2002;10:217-21 pubmed
    ..Mutation screening in RANK and the genes PIGN and KIAA1468 led to detection of two variants (one in RANK and one in PIGN), which are in linkage disequilibrium with the rare D18S60 allele, but not independently associated with CRMO. ..
  57. Rottensteiner H, Wabnegger L, Erdmann R, Hamilton B, Ruis H, Hartig A, et al. Saccharomyces cerevisiae PIP2 mediating oleic acid induction and peroxisome proliferation is regulated by Adr1p and Pip2p-Oaf1p. J Biol Chem. 2003;278:27605-11 pubmed
    ..Hence, both the expression as well as the action of the two transcription factors, Adr1p and Pip2p-Oaf1p, are interconnected, which allows for an elaborate control of fatty acid-inducible genes. ..
  58. Sauter S, Engel W, Neumann L, Kunze J, Neesen J. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat. 2004;23:98 pubmed
    ..481G>C (p.A161P) and c.740A>C (p.H247P). One of the novel mutations was found both in a family with early onset of symptoms and in a late onset family. Furthermore, we report on numerous polymorphisms detected in the SPG3A gene. ..
  59. Niethammer P, Bastiaens P, Karsenti E. Stathmin-tubulin interaction gradients in motile and mitotic cells. Science. 2004;303:1862-6 pubmed
    ..These interaction patterns are likely to reflect phosphorylation of stathmin in these areas. ..
  60. Partsch C, Krone N, Riepe F, Gromoll J, Sippell W. Long-term follow-up of spontaneous development in a boy with familial male precocious puberty. Horm Res. 2004;62:177-81 pubmed
    ..Furthermore, this case emphasizes that the indication for treatment is highly dependent on intrafamilial and individual factors. ..
  61. Graw J. Congenital hereditary cataracts. Int J Dev Biol. 2004;48:1031-44 pubmed
  62. Speidel D, Helmbold H, Deppert W. Dissection of transcriptional and non-transcriptional p53 activities in the response to genotoxic stress. Oncogene. 2006;25:940-53 pubmed
    ..Our results demonstrate the impact and in vivo relevance of non-transcriptional mechanisms for wild-type and mutant p53-mediated apoptosis. ..
  63. Gaussmann A, Wenger T, Eberle I, Bursen A, Bracharz S, Herr I, et al. Combined effects of the two reciprocal t(4;11) fusion proteins MLL.AF4 and AF4.MLL confer resistance to apoptosis, cell cycling capacity and growth transformation. Oncogene. 2007;26:3352-63 pubmed
  64. Schiffer N, Broadley S, Hirschberger T, Tavan P, Kretzschmar H, Giese A, et al. Identification of anti-prion compounds as efficient inhibitors of polyglutamine protein aggregation in a zebrafish model. J Biol Chem. 2007;282:9195-203 pubmed
  65. Pallerla S, Lawrence R, Lewejohann L, Pan Y, Fischer T, Schlomann U, et al. Altered heparan sulfate structure in mice with deleted NDST3 gene function. J Biol Chem. 2008;283:16885-94 pubmed publisher
  66. Ekici M, Schmitz F, Hohl M, Seigel G, Thiel G. Chromatin structure and expression of synapsin I and synaptophysin in retinal precursor cells. Neurochem Int. 2008;53:165-72 pubmed publisher
    ..These data reveal that the synapsin I and synaptophysin genes are bona fide target genes for REST in R28 retinal precursor cells. ..
  67. Simon R, Bergemann A. Mouse models of Wolf-Hirschhorn syndrome. Am J Med Genet C Semin Med Genet. 2008;148C:275-80 pubmed publisher
    ..Further, we will describe how the phenotypes of some of the mutations suggest new directions for the clinical studies. Finally we will outline approaches for the efficient creation of new mouse models of WHS going forward. ..
  68. Jangsangthong W, Kuzmenkina E, Khan I, Matthes J, Hullin R, Herzig S. Inactivation of L-type calcium channels is determined by the length of the N terminus of mutant beta(1) subunits. Pflugers Arch. 2010;459:399-411 pubmed publisher
    ..Our study shows that the length-dependent mechanism of modulating inactivation kinetics of beta(2) calcium channel subunits can be confirmed and extended to the beta(1) calcium channel subunit. ..
  69. Zimmermann R, Sakai H, Hochholdinger F. The Gibberellic Acid Stimulated-Like gene family in maize and its role in lateral root development. Plant Physiol. 2010;152:356-65 pubmed publisher
    ..Expression patterns of ZmGSL1a and ZmGSL1b propose antagonistic functions of these splice variants during early lateral root formation. ..
  70. Schieder M, Rötzer K, Brüggemann A, Biel M, Wahl Schott C. Characterization of two-pore channel 2 (TPCN2)-mediated Ca2+ currents in isolated lysosomes. J Biol Chem. 2010;285:21219-22 pubmed publisher
    ..Our glass chip-based method will provide electrophysiological access not only to lysosomal TPCN channels but also to a broad range of other intracellular ion channels. ..
  71. Kertelge L, Brüggemann N, Schmidt A, Tadic V, Wisse C, Dankert S, et al. Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease. Mov Disord. 2010;25:2665-9 pubmed publisher
    ..Second, olfaction differed between carriers with one and two mutations in Parkin/PINK1-associated PD. Third, olfaction and color discrimination impairment do not necessarily evolve in parallel. ..
  72. Haack T, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, et al. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet. 2010;42:1131-4 pubmed publisher
    ..ACAD9 screening of 120 additional complex I-defective index cases led us to identify two additional unrelated cases and a total of five pathogenic ACAD9 alleles. ..
  73. Rengstl B, Oster U, Stengel A, Nickelsen J. An intermediate membrane subfraction in cyanobacteria is involved in an assembly network for Photosystem II biogenesis. J Biol Chem. 2011;286:21944-51 pubmed publisher
    ..In addition, formation of complexes containing both YCF48 and Sll0933 was substantiated by co-immunoprecipitation experiments. The findings are integrated into a refined model for PSII biogenesis in Synechocystis 6803...
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