Experts and Doctors on mutation in Stockholm, Sweden


Locale: Stockholm, Sweden
Topic: mutation

Top Publications

  1. Hertting O, Chromek M, Slamová Z, Kádas L, Söderkvist M, Vainumäe I, et al. Cytotoxic necrotizing factor 1 (CNF1) induces an inflammatory response in the urinary tract in vitro but not in vivo. Toxicon. 2008;51:1544-7 pubmed publisher
    ..coli. ..
  2. Eskandarpour M, Huang F, Reeves K, Clark E, Hansson J. Oncogenic NRAS has multiple effects on the malignant phenotype of human melanoma cells cultured in vitro. Int J Cancer. 2009;124:16-26 pubmed publisher
    ..These studies support the concept that suppression of oncogenic NRAS by siRNA can induce growth arrest and inhibit invasion of human melanoma cells by modulating the levels of these gene products. ..
  3. Malm M, Kronqvist N, Lindberg H, Gudmundsdotter L, Bass T, Frejd F, et al. Inhibiting HER3-mediated tumor cell growth with affibody molecules engineered to low picomolar affinity by position-directed error-prone PCR-like diversification. PLoS ONE. 2013;8:e62791 pubmed publisher
  4. Abolhassani H, Vitali M, Lougaris V, Giliani S, Parvaneh N, Parvaneh L, et al. Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects. Expert Rev Clin Immunol. 2016;12:479-86 pubmed publisher
  5. Larsson N, Wang J, Wilhelmsson H, Oldfors A, Rustin P, Lewandoski M, et al. Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet. 1998;18:231-6 pubmed
    ..5. Thus, Tfam is the first mammalian protein demonstrated to regulate mtDNA copy number in vivo and is essential for mitochondrial biogenesis and embryonic development. ..
  6. Beltcheva O, Martin P, Lenkkeri U, Tryggvason K. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat. 2001;17:368-73 pubmed
    ..This mutation update summarizes the nature of all previously reported nephrin mutations and, additionally, describes 20 novel mutations recently identified in our laboratory. ..
  7. Stenmark P, Kursula P, Flodin S, Gräslund S, Landry R, Nordlund P, et al. Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T. J Biol Chem. 2007;282:3182-7 pubmed
    ..We predict that the ITPA deficiency mutation P32T leads to a shift of this loop that results in a disturbed affinity for nucleotides and/or a reduced catalytic activity in both monomers of the physiological dimer. ..
  8. Scholl M, Wall A, Thordardottir S, Ferreira D, Bogdanovic N, Langstrom B, et al. Low PiB PET retention in presence of pathologic CSF biomarkers in Arctic APP mutation carriers. Neurology. 2012;79:229-36 pubmed publisher
  9. Nordenskjold A, Friedman E, Tapper Persson M, Söderhäll C, Leviav A, Svensson J, et al. Screening for mutations in candidate genes for hypospadias. Urol Res. 1999;27:49-55 pubmed
    ..In summary, mutations in the WT1, AR and 5alpha-reductase genes are not common causes of isolated hypospadias. ..

More Information

Publications217 found, 100 shown here

  1. Kostareva A, Gudkova A, Sjoberg G, Kiselev I, Moiseeva O, Karelkina E, et al. Desmin mutations in a St. Petersburg cohort of cardiomyopathies. Acta Myol. 2006;25:109-15 pubmed
    ..No desmin mutations were found in patients with hypertrophic or restrictive cardiomyopathy. Desmin mutations should be considered a relatively rare cause of dilated cardiomyopathy in this specific geographic area. ..
  2. Haggård Ljungquist E, Barreiro V, Calendar R, Kurnit D, Cheng H. The P2 phage old gene: sequence, transcription and translational control. Gene. 1989;85:25-33 pubmed
    ..Thus the pin3 allele probably stalls translation of the old mRNA, causing this mRNA to be degraded. Isoelectric focusing and electrophoretic analysis identify the old gene product as a basic protein of approx. 65 kDa. ..
  3. Hedlund E, Isacson O. ALS model glia can mediate toxicity to motor neurons derived from human embryonic stem cells. Cell Stem Cell. 2008;3:575-6 pubmed publisher
    ..In these human ALS models, motor neurons are selectively destroyed by mutant astrocyte-secreted factors, and potential neuroprotective pathways are revealed. ..
  4. Schepis D, D AMATO M, Studahl M, Bergstr m T, K rre K, Berg L. Herpes simplex virus infection downmodulates NKG2D ligand expression. Scand J Immunol. 2009;69:429-36 pubmed publisher
    ..These data support a role for NKG2D-MICA interactions in immune responses to HSV-1 reactivation...
  5. Nordenstrom A, Frisén L, Falhammar H, Filipsson H, Holmdahl G, Janson P, et al. Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception. J Clin Endocrinol Metab. 2010;95:3633-40 pubmed publisher
    ..Little is known about how these women feel that the disease has affected their lives regarding surgery and psychosexual adaptation...
  6. Stoimenov I, Gottipati P, Schultz N, Helleday T. Transcription inhibition by 5,6-dichloro-1-beta-D-ribofuranosylbenzimidazole (DRB) causes DNA damage and triggers homologous recombination repair in mammalian cells. Mutat Res. 2011;706:1-6 pubmed publisher
    ..In conclusion, we show that DRB-induced transcription inhibition is associated with the formation of a lesion that triggers RAD51-dependent homologous recombination repair, required for survival under transcriptional stress. ..
  7. Ghanchi N, Ursing J, Beg M, Veiga M, Jafri S, Martensson A. Prevalence of resistance associated polymorphisms in Plasmodium falciparum field isolates from southern Pakistan. Malar J. 2011;10:18 pubmed publisher
    ..The results indicate high prevalence of in vivo resistance to chloroquine, whereas high grade resistance to sulphadoxine-pyrimethamine does not appear to be widespread among P. falciparum in southern Pakistan. ..
  8. Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid B, et al. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. J Med Genet. 2014;51:45-54 pubmed publisher
  9. Lakiotaki E, Levidou G, Angelopoulou M, Adamopoulos C, Pangalis G, Rassidakis G, et al. Potential role of AKT/mTOR signalling proteins in hairy cell leukaemia: association with BRAF/ERK activation and clinical outcome. Sci Rep. 2016;6:21252 pubmed publisher
    ..Most importantly, expression of p-4E-BP1 alone or combined with p-AKT and p-mTOR is of prognostic value in patients with HCL. ..
  10. Schalling M, Johansen J, Nordfors L, Lonnqvist F. Genes involved in animal models of obesity and anorexia. J Intern Med. 1999;245:613-9 pubmed
    ..The role of the Genome Project in developing a complete gene map will greatly facilitate transforming these OTLs to actual molecules involved in the biology of bodyweight. ..
  11. Ciccarese M, Casu D, Ki Wong F, Faedda R, Arvidsson S, Tonolo G, et al. Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. Nephrol Dial Transplant. 2001;16:2008-12 pubmed
    ..Rare autosomal forms of AS have been described with mutations in COL4A3 and COL4A4 at chromosome region 2q35-q37, but there have been no descriptions of dominant forms due to a mutation in COL4A4...
  12. Bykov V, Zache N, Stridh H, Westman J, Bergman J, Selivanova G, et al. PRIMA-1(MET) synergizes with cisplatin to induce tumor cell apoptosis. Oncogene. 2005;24:3484-91 pubmed
    ..Thus, the combination of PRIMA-1(MET) with currently used chemotherapeutic drugs may represent a novel and more efficient therapeutic strategy for treatment of mutant p53-carrying tumors. ..
  13. Mikaelsson E, Danesh Manesh A, Lüppert A, Jeddi Tehrani M, Rezvany M, Sharifian R, et al. Fibromodulin, an extracellular matrix protein: characterization of its unique gene and protein expression in B-cell chronic lymphocytic leukemia and mantle cell lymphoma. Blood. 2005;105:4828-35 pubmed
    ..The reason for the exclusive ectopic expression of fibromodulin in B-CLL and MCL is unknown. However, its unique protein expression makes it likely that fibromodulin is involved in the pathobiology of B-CLL and MCL. ..
  14. Westman E, Spenger C, Oberg J, Reyer H, Pahnke J, Wahlund L. In vivo 1H-magnetic resonance spectroscopy can detect metabolic changes in APP/PS1 mice after donepezil treatment. BMC Neurosci. 2009;10:33 pubmed publisher
    ..Effects on several metabolites that are measurable in vivo using MR spectroscopy were observed. Changes in Tau/tCr and tCho/tCr could possibly be related to changed cholinergic activity caused by donepezil treatment. ..
  15. Meeths M, Bryceson Y, Rudd E, Zheng C, Wood S, Ramme K, et al. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. Pediatr Blood Cancer. 2010;54:563-72 pubmed publisher
    ..Since five of six patients studied herein initially were diagnosed as having FHL, we conclude that the diagnosis of GS2 may be overlooked, particularly in fair-haired patients with haemophagocytic syndromes. ..
  16. Hellstrom Lindberg E. Significance of JAK2 and TET2 mutations in myelodysplastic syndromes. Blood Rev. 2010;24:83-90 pubmed publisher
  17. Juhlin C, Haglund F, Obara T, Arnold A, Larsson C, Höög A. Absence of nucleolar parafibromin immunoreactivity in subsets of parathyroid malignant tumours. Virchows Arch. 2011;459:47-53 pubmed publisher
  18. Mittag J, Lyons D, Sällström J, Vujovic M, Dudazy Gralla S, Warner A, et al. Thyroid hormone is required for hypothalamic neurons regulating cardiovascular functions. J Clin Invest. 2013;123:509-16 pubmed publisher
    ..Furthermore, the findings may be beneficial for treatment of the recently identified patients that have a mutation in thyroid hormone receptor ?1. ..
  19. Carow B, Reuschl A, Gavier Widen D, Jenkins B, Ernst M, Yoshimura A, et al. Critical and independent role for SOCS3 in either myeloid or T cells in resistance to Mycobacterium tuberculosis. PLoS Pathog. 2013;9:e1003442 pubmed publisher
    ..Socs3(fl/fl) lck cre ??+ T cells impaired the control of infection with M. tuberculosis. Thus, SOCS3 expression in either lymphoid or myeloid cells is essential for resistance against M. tuberculosis via discrete mechanisms. ..
  20. Grillner P, Söderman M, Holmin S, Rodesch G. A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. Childs Nerv Syst. 2016;32:709-15 pubmed publisher
  21. Lajic S, Clauin S, Robins T, Vexiau P, Blanche H, Bellanne Chantelot C, et al. Novel mutations in CYP21 detected in individuals with hyperandrogenism. J Clin Endocrinol Metab. 2002;87:2824-9 pubmed
    ..It also supports the idea that the heterozygous carrier state for CYP21 mutations can be associated with symptoms of androgen excess in certain susceptible individuals. ..
  22. Wang J, Pitarque M, Ingelman Sundberg M. 3'-UTR polymorphism in the human CYP2A6 gene affects mRNA stability and enzyme expression. Biochem Biophys Res Commun. 2006;340:491-7 pubmed
    ..Such polymorphism has been described to influence the in vivo rate of nicotine elimination and possibly the cigarette consumption and risk of smoking induced lung cancer. ..
  23. Stenqvist A, Lundgren T, Smith M, Hermanson O, Castelo Branco G, Pawson T, et al. Subcellular receptor redistribution and enhanced microspike formation by a Ret receptor preferentially recruiting Dok. Neurosci Lett. 2008;435:11-6 pubmed publisher
  24. Olsson M, Zhivotovsky B. Caspases and cancer. Cell Death Differ. 2011;18:1441-9 pubmed publisher
  25. Wedell A, Thilen A, Ritzen E, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab. 1994;78:1145-52 pubmed
  26. Nordenskjold A, Ivarsson S. Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. J Clin Endocrinol Metab. 1998;83:3236-8 pubmed
    ..The two mutations (G196S and H231R) have been described previously and reported to give rise to partially functioning enzymes, which may explain the milder phenotype and perhaps the fertility in the preset three patients. ..
  27. Andersson R, Aizman O, Aperia A, Brismar H. Modulation of Na+,K+-ATPase activity is of importance for RVD. Acta Physiol Scand. 2004;180:329-34 pubmed
    ..Taken together, these results suggest that a PKC-mediated transient increase in Na+,K+-ATPase activity plays an important role in RVD. ..
  28. Helleday T. Putting poly (ADP-ribose) polymerase and other DNA repair inhibitors into clinical practice. Curr Opin Oncol. 2013;25:609-14 pubmed publisher
    ..There is strong proof-of-concept for DNA repair inhibitors being a useful anticancer strategy in well designed clinical trials. ..
  29. Guerard S, Boieri M, Hultqvist M, Holmdahl R, Wing K. The SKG Mutation in ZAP-70 also Confers Arthritis Susceptibility in C57 Black Mouse Strains. Scand J Immunol. 2016;84:3-11 pubmed publisher
  30. Njalsson R, Carlsson K, Winkler A, Larsson A, Norgren S. Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene. Hum Mutat. 2003;22:497 pubmed
    ..Thus, we conclude that in the investigation of patients with glutathione synthetase deficiency, and probably other genetic diseases as well, it might be time saving to initiate mutation analysis with sequencing of mRNA. ..
  31. Berndtsson M, Konishi Y, Bonni A, Hägg M, Shoshan M, Linder S, et al. Phosphorylation of BAD at Ser-128 during mitosis and paclitaxel-induced apoptosis. FEBS Lett. 2005;579:3090-4 pubmed
    ..Whereas the BAD Serine 128 phosphorylation induces apoptosis in neuronal cells, it does not appear to promote apoptosis in proliferating non-neural cells during mitosis or upon exposure to the antineoplastic agent taxol. ..
  32. Ekelund E, Lieden A, Link J, Lee S, D Amato M, Palmer C, et al. Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish families. Acta Derm Venereol. 2008;88:15-9 pubmed publisher
    ..Our results support an important role for the filaggrin gene variants R501X and 2282del4 in the development and severity of atopic eczema and indicate a possible role for the subsequent progression into eczema-associated phenotypes. ..
  33. Ueno T, Elmberger G, Weaver T, Toi M, Linder S. The aspartic protease napsin A suppresses tumor growth independent of its catalytic activity. Lab Invest. 2008;88:256-63 pubmed publisher
    ..These data show that napsin A inhibits tumor growth of HEK293 cells by a mechanism independent of its catalytic activity. ..
  34. Karltorp E, Hellstrom S, Lewensohn Fuchs I, Carlsson Hansén E, Carlsson P, Engman M. Congenital cytomegalovirus infection - a common cause of hearing loss of unknown aetiology. Acta Paediatr. 2012;101:e357-62 pubmed publisher
    ..Furthermore, the occurrence of combined congenital CMV infection and connexin 26 (Cx26) mutations was investigated...
  35. Peterlongo P, Chang Claude J, Moysich K, Rudolph A, Schmutzler R, Simard J, et al. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015;24:308-16 pubmed publisher
    ..Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies. ..
  36. Ahmad I, Cimdins A, Beske T, Romling U. Detailed analysis of c-di-GMP mediated regulation of csgD expression in Salmonella typhimurium. BMC Microbiol. 2017;17:27 pubmed publisher
    ..The enzymatic activity and the protein scaffold of GGDEF/EAL domain proteins regulate csgD expression. Thereby, c-di-GMP adjusts csgD expression at multiple levels presumably using a multitude of input signals. ..
  37. Leong I, Stuckey A, Ahanian T, Cederlöf M, Wikstrom J. Novel mutations in Darier disease and association to self-reported disease severity. PLoS ONE. 2017;12:e0186356 pubmed publisher
    ..The genotype-phenotype association was examined for all variants in relation to the patient's disease severity score, and no correlation could be established. ..
  38. Varmeh Ziaie S, Okan I, Wang Y, Magnusson K, Warthoe P, Strauss M, et al. Wig-1, a new p53-induced gene encoding a zinc finger protein. Oncogene. 1997;15:2699-704 pubmed
    ..A basal wig-1 expression was detected in brain, testis and kidney. The WIG-1 protein contains three zinc finger motifs and a putative nuclear localization signal. ..
  39. Sandström K, Warmlander S, Gräslund A, Leijon M. A-tract DNA disfavours triplex formation. J Mol Biol. 2002;315:737-48 pubmed
    ..These results may be valuable for understanding DNA triplex formation in vivo as well as for the design of efficient triplex-forming oligonucleotides and in choosing suitable target sequences in the anti-gene strategy. ..
  40. Sim S, Risinger C, Dahl M, Aklillu E, Christensen M, Bertilsson L, et al. A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and antidepressants. Clin Pharmacol Ther. 2006;79:103-13 pubmed
    ..CYP2C19*17 is likely to cause therapeutic failures in drug treatment with, for example, proton pump inhibitors and antidepressants. ..
  41. Mehnert K, Beramendi A, Elghazali F, Negro P, Kyriacou C, Cantera R. Circadian changes in Drosophila motor terminals. Dev Neurobiol. 2007;67:415-21 pubmed
    ..These unexpected results reveal further circadian as well as nonclock related pleiotropic effects for these classic behavioral mutants. ..
  42. Segerstolpe A, Lundkvist P, Osheim Y, Beyer A, Wieslander L. Mrd1p binds to pre-rRNA early during transcription independent of U3 snoRNA and is required for compaction of the pre-rRNA into small subunit processomes. Nucleic Acids Res. 2008;36:4364-80 pubmed publisher
    ..These results show that Mrd1p is required for establishing productive structures within the 90S preribosomal complex. ..
  43. Brzezinski P, Gennis R. Cytochrome c oxidase: exciting progress and remaining mysteries. J Bioenerg Biomembr. 2008;40:521-31 pubmed publisher
    ..We have come a long way since the initial observation of the pump by Mårten Wikström in 1977, but a number of essential questions remain to be answered. ..
  44. Johansson C, Egyhazi S, Masucci G, Harlin H, Mougiakakos D, Poschke I, et al. Prognostic significance of tumor iNOS and COX-2 in stage III malignant cutaneous melanoma. Cancer Immunol Immunother. 2009;58:1085-94 pubmed publisher
    ..Our data show that iNOS is an independent and stronger prognostic factor for OS in stage III malignant cutaneous melanoma than COX-2. ..
  45. Zhao C, Grinkevich V, Nikulenkov F, Bao W, Selivanova G. Rescue of the apoptotic-inducing function of mutant p53 by small molecule RITA. Cell Cycle. 2010;9:1847-55 pubmed
    ..Thus, RITA is a promising lead for the development of anti-cancer drugs that reactivate the tumor suppressor function of p53 in cancer cells irrespective whether they express mutant or wild type p53. ..
  46. Lerner M, Lundgren J, Akhoondi S, Jahn A, Ng H, Akbari Moqadam F, et al. MiRNA-27a controls FBW7/hCDC4-dependent cyclin E degradation and cell cycle progression. Cell Cycle. 2011;10:2172-83 pubmed
    ..These data provide evidence for microRNA-mediated regulation of FBW7, and highlight the role of miR-27a as a novel factor fine-tuning the periodic events regulating cell cycle progression. ..
  47. Nilsson O, Adedoyin J, Rhyner C, Neimert Andersson T, Grundström J, Berndt K, et al. In vitro evolution of allergy vaccine candidates, with maintained structure, but reduced B cell and T cell activation capacity. PLoS ONE. 2011;6:e24558 pubmed publisher
    ..The approach presented here provides a straightforward procedure to generate a novel type of allergy vaccines for safer and efficacious treatment of allergic patients. ..
  48. Björnerås J, Gräslund A, Mäler L. Membrane interaction of disease-related dynorphin A variants. Biochemistry. 2013;52:4157-67 pubmed publisher
    ..We suggest that the results presented here may explain the differences in cell toxicity of these disease-related neuropeptide variants. ..
  49. Yu M, Bardia A, Aceto N, Bersani F, Madden M, Donaldson M, et al. Cancer therapy. Ex vivo culture of circulating breast tumor cells for individualized testing of drug susceptibility. Science. 2014;345:216-20 pubmed publisher
    ..With optimization of CTC culture conditions, this strategy may help identify the best therapies for individual cancer patients over the course of their disease. ..
  50. Lindh E, Rosmaraki E, Berg L, Brauner H, Karlsson M, Peltonen L, et al. AIRE deficiency leads to impaired iNKT cell development. J Autoimmun. 2010;34:66-72 pubmed publisher
    ..Our results show that expression of Aire in radio-resistant cells is important for the development of iNKT cells, whereas NK cell development and function does not depend on Aire. ..
  51. Hashemi J, Platz A, Ueno T, Stierner U, Ringborg U, Hansson J. CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas. Cancer Res. 2000;60:6864-7 pubmed
    ..We conclude that mutation screening of individuals with multiple primary melanomas is a useful strategy to identify new melanoma kindreds with CDKN2A germ-line mutations. ..
  52. Ding B. Distribution of the NPY 1128C allele frequency in different populations. J Neural Transm (Vienna). 2003;110:1199-204 pubmed
    ..The highest allele frequencies were found in Nordic countries. The NPY 1128C allele might originate in the north of Europe, and then spread to neighboring regions. ..
  53. Hedskog L, Pinho C, Filadi R, Rönnbäck A, Hertwig L, Wiehager B, et al. Modulation of the endoplasmic reticulum-mitochondria interface in Alzheimer's disease and related models. Proc Natl Acad Sci U S A. 2013;110:7916-21 pubmed publisher
    ..Our data suggest an important role of ER-mitochondria contacts and cross-talk in AD pathology. ..
  54. Ibanez C, Hallbook F, Ebendal T, Persson H. Structure-function studies of nerve growth factor: functional importance of highly conserved amino acid residues. EMBO J. 1990;9:1477-83 pubmed
    ..However, replacement of Trp20 significantly reduced the amount of NGF in the medium, suggesting that this residue may be important for protein stability. ..
  55. Aslund F, Ehn B, Miranda Vizuete A, Pueyo C, Holmgren A. Two additional glutaredoxins exist in Escherichia coli: glutaredoxin 3 is a hydrogen donor for ribonucleotide reductase in a thioredoxin/glutaredoxin 1 double mutant. Proc Natl Acad Sci U S A. 1994;91:9813-7 pubmed
    ..The physiological functions of Grx2 and Grx3 remain to be determined. ..
  56. Du Y, Zhang H, Lu J, Holmgren A. Glutathione and glutaredoxin act as a backup of human thioredoxin reductase 1 to reduce thioredoxin 1 preventing cell death by aurothioglucose. J Biol Chem. 2012;287:38210-9 pubmed publisher
    ..Monitoring the redox state of Trx1 shows that cell death occurs when Trx1 is oxidized, followed by general protein oxidation catalyzed by the disulfide form of thioredoxin. ..
  57. Cui B, Zheng B, Zhang X, Stendahl U, Andersson S, Wallin K. Mutation of PIK3CA: possible risk factor for cervical carcinogenesis in older women. Int J Oncol. 2009;34:409-16 pubmed
    ..The results suggest that PIK3CA mutations are a late event and uncommon in the progression of malignant tumors, but it appears that they facilitate carcinogenesis in older women. ..
  58. Pizzolla A, Wing K, Holmdahl R. A glucose-6-phosphate isomerase peptide induces T and B cell-dependent chronic arthritis in C57BL/10 mice: arthritis without reactive oxygen species and complement. Am J Pathol. 2013;183:1144-1155 pubmed publisher
    ..The differences between the wild-type and Ncf1*/* mice suggest that an alternative complement-independent arthritogenic pathway could be operative in the absence of oxidative burst. ..
  59. Alkhairy O, Abolhassani H, Rezaei N, Fang M, Andersen K, Chavoshzadeh Z, et al. Spectrum of Phenotypes Associated with Mutations in LRBA. J Clin Immunol. 2016;36:33-45 pubmed publisher
    ..We review the clinical and laboratory features of patients with LRBA mutations and present five novel mutations in eight patients suffering from a multitude of clinical features. ..
  60. Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S. Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. Hum Genet. 2005;116:384-9 pubmed
    ..The type of mutation involved can, to some extent, predict a mild versus a more severe phenotype. ..
  61. Kjaer S, Kurokawa K, Perrinjaquet M, Abrescia C, Ibanez C. Self-association of the transmembrane domain of RET underlies oncogenic activation by MEN2A mutations. Oncogene. 2006;25:7086-95 pubmed
  62. Stenman A, Welander J, Gustavsson I, Brunaud L, Bäckdahl M, Söderkvist P, et al. HRAS mutation prevalence and associated expression patterns in pheochromocytoma. Genes Chromosomes Cancer. 2016;55:452-9 pubmed publisher
    ..HRAS mutated PPGL cluster together with NF1- and RET-mutated tumors associated with activation of kinase-signaling pathways. ..
  63. Hong M, Karlsson R, Magnusson P, Lewis M, Isaacs W, Zheng L, et al. A genome-wide assessment of variability in human serum metabolism. Hum Mutat. 2013;34:515-24 pubmed publisher
    ..mQTL SNPs and mQTL-harboring genes were over-represented across GWASs conducted to date, suggesting that these data may have utility in tracing the molecular basis of some complex disease associations. ..
  64. Svensson S, Hoog J, Schneider G, Sandalova T. Crystal structures of mouse class II alcohol dehydrogenase reveal determinants of substrate specificity and catalytic efficiency. J Mol Biol. 2000;302:441-53 pubmed
    ..This is consistent with hydrogen transfer from an alcoholate intermediate where the Pro/His replacement focuses on the function of the enzyme. ..
  65. Singh T, Walters J, Johnstone M, Curtis D, Suvisaari J, Torniainen M, et al. The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nat Genet. 2017;49:1167-1173 pubmed publisher
  66. Kaiser C, James S. Acetylation of insulin receptor substrate-1 is permissive for tyrosine phosphorylation. BMC Biol. 2004;2:23 pubmed
    ..Acetylation of IRS-1 is permissive for tyrosine phosphorylation and facilitates insulin-stimulated signal transduction. Specific inhibition of HDAC2 may increase insulin sensitivity in otherwise insulin resistant conditions. ..
  67. Wang Y, Fisahn A, Sinha I, Nguyen D, Sterzenbach U, Lallemend F, et al. Hippocampal Transcriptome Profile of Persistent Memory Rescue in a Mouse Model of THRA1 Mutation-Mediated Resistance to Thyroid Hormone. Sci Rep. 2016;6:18617 pubmed publisher
  68. Heinen C, Garner T, Long J, Böttcher C, Ralston S, Cavey J, et al. Mutant p62/SQSTM1 UBA domains linked to Paget's disease of bone differ in their abilities to function as stabilization signals. FEBS Lett. 2010;584:1585-90 pubmed publisher
    ..These data suggest that the protective effect of UBA domains depends on their structural integrity rather than ubiquitin binding capabilities...
  69. Hedskog C, Mild M, Jernberg J, Sherwood E, Bratt G, Leitner T, et al. Dynamics of HIV-1 quasispecies during antiviral treatment dissected using ultra-deep pyrosequencing. PLoS ONE. 2010;5:e11345 pubmed publisher
    ..Ultra-deep pyrosequencing (UDPS) allows identification of rare HIV-1 variants and minority drug resistance mutations, which are not detectable by standard sequencing...
  70. Ribeiro D, Ellwanger K, Glagow D, Theofilopoulos S, Corsini N, Martin Villalba A, et al. Dkk1 regulates ventral midbrain dopaminergic differentiation and morphogenesis. PLoS ONE. 2011;6:e15786 pubmed publisher
    ..5 revealed a more severe loss of midbrain DA neurons and morphogenesis defects. Our results thus show that Dkk1 is required for midbrain DA differentiation and morphogenesis. ..
  71. Stewart J, Freyer C, Elson J, Wredenberg A, Cansu Z, Trifunovic A, et al. Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biol. 2008;6:e10 pubmed publisher
  72. Monne M, Gafvelin G, Nilsson R, von Heijne G. N-tail translocation in a eukaryotic polytopic membrane protein: synergy between neighboring transmembrane segments. Eur J Biochem. 1999;263:264-9 pubmed
    ..Our observations imply a non-sequential assembly mechanism in which the ultimate location of the N-tail relative to the membrane may depend on more than one transmembrane segment. ..
  73. Doné S, Leibiger I, Efendiev R, Katz A, Leibiger B, Berggren P, et al. Tyrosine 537 within the Na+,K+-ATPase alpha-subunit is essential for AP-2 binding and clathrin-dependent endocytosis. J Biol Chem. 2002;277:17108-11 pubmed
  74. Omholt K, Platz A, Kanter L, Ringborg U, Hansson J. NRAS and BRAF mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression. Clin Cancer Res. 2003;9:6483-8 pubmed
    ..Activation occurs through either NRAS or BRAF mutations, both of which arise early during melanoma pathogenesis and are preserved throughout tumor progression. ..
  75. Bao W, Thullberg M, Zhang H, Onischenko A, Stromblad S. Cell attachment to the extracellular matrix induces proteasomal degradation of p21(CIP1) via Cdc42/Rac1 signaling. Mol Cell Biol. 2002;22:4587-97 pubmed
    ..Our results indicate that integrin-regulated proteasomal proteolysis might contribute to anchorage-dependent cell cycle control. ..
  76. Lindback E, Rahman M, Jalal S, Wretlind B. Mutations in gyrA, gyrB, parC, and parE in quinolone-resistant strains of Neisseria gonorrhoeae. APMIS. 2002;110:651-7 pubmed
    ..There was no correlation between ciprofloxacin MICs and pattern or number of mutations in the target genes. ..
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