Selected Publications
2021
Morales F, Corrales E, Zhang B, Vásquez M, Santamaría-Ulloa C, Quesada H, Sirito M, Estecio MR, Monckton DG, Krahe R. Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent. Hum Mol Genet. 2021 Dec 27;31(2):262-274. PMID: 34432028; PMCID: PMC8831269.
2020
Kurkiewicz A, Cooper A, McIlwaine E, Cumming SA, Adam B, Krahe R, Puymirat J, Schoser B, Timchenko L, Ashizawa T, Thornton CA, Rogers S, McClure JD & Monckton DG. Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial. PLoS One 15, e0231000. PMID: 32287265
Morales F, Vásquez M, Corrales E, Vindas-Smith R, Santamaría-Ulloa C, Zhang B, Sirito M, Estecio MR, Krahe R, Monckton DG. Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset. Hum Mol Genet. 2020 Aug 29;29(15):2496-2507. doi: 10.1093/hmg/ddaa123. PMID: 32601694.
2015-2019
2019
Schoser B, Montagnese F, Bassez G, Fossati B, Gamez J, Heatwole C, Hilbert J, Kornblum C, Kostera-Pruszczyk A, Krahe R, Lusakowska A, Meola G, Moxley R, 3rd, Thornton C, Udd B, Formaker P & Myotonic Dystrophy F. Consensus-based care recommendations for adults with myotonic dystrophy type 2. Neurol Clin Pract 9, 343-353. PMID: 31583190
Corrales E, Vasquez M, Zhang B, Santamaria-Ulloa C, Cuenca P, Krahe R, Monckton DG & Morales F. Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. PLoS One 14, e0216407. no other financial or personal conflicts of interest with the publication of this manuscript. This does not alter our adherence to PLOS ONE policies on sharing data and materials.: PMID: 31048891
2018
Larsson CA, Moyer SM, Liu B, Michel KA, Pant V, Yang P, Wong J, El-Naggar AK, Krahe R & Lozano G. Synergistic and additive effect of retinoic acid in circumventing resistance to p53 restoration. Proc Natl Acad Sci U S A 115, 2198-2203. PMID: 29440484
2017
Qian DC, Molfese DL, Jin JL, Titus AJ, He Y, Li Y, Vaissie M, Viswanath H, Baldwin PR, Krahe R, Salas R & Amos CI. Genome-wide imaging association study implicates functional activity and glial homeostasis of the caudate in smoking addiction. BMC Genomics 18, 740. PMID: 28927378
Yenigun VB, Sirito M, Amcheslavky A, Czernuszewicz T, Colonques-Bellmunt J, Garcia-Alcover I, Wojciechowska M, Bolduc C, Chen Z, Lopez Castel A, Krahe R* & Bergmann A. (CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis. Dis Model Mech 10, 993-1003. PMID: 28623239 (*corresponding authors)
2016
Chakraborty S, Vatta M, Bachinski LL, Krahe R, Dlouhy S & Bai S. Molecular Diagnosis of Myotonic Dystrophy. Curr Protoc Hum Genet 91, 9 29 21-29 29 19. PMID: 27727437
2015
Chen Q, Sinha K, Deng JM, Yasuda H, Krahe R, Behringer RR & de Crombrugghe B. Mesenchymal Deletion of Histone Demethylase NO66 in Mice Promotes Bone Formation. J Bone Miner Res 10.1002/jbmr.2494. PMID: 25736226
Chen Q, Zhang L, de Crombrugghe B & Krahe R. Mesenchyme-specific overexpression of nucleolar protein 66 in mice inhibits skeletal growth and bone formation. FASEB J 29, 2555-2565. 4447221: PMID: 25746793
2010-2014
2014
Screen M, Jonson PH, Raheem O, Palmio J, Laaksonen R, Lehtimaki T, Sirito M, Krahe R, Hackman P & Udd B. Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions. Am J Pathol 184, 2322-2332. PMID: 24907641
Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, Udd B & Krahe R. Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. Neuromuscul Disord 24, 227-240. PMID: 24332166
2013
Vihola A, Sirito M, Bachinski LL, Raheem O, Screen M, Suominen T, Krahe R & Udd B. Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2. Neuropathol Appl Neurobiol 39, 390-405. PMID: 22758909
2012
Udd B & Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 11(10):891-905. PMID: 22995693
Izaguirre DI, Zhu W, Hai T, Cheung HC, Krahe R & Cote GJ. PTBP1-dependent regulation of USP5 alternative RNA splicing plays a role in glioblastoma tumorigenesis. Mol Carcinogenesis 51, 895-906. 3319169: PMID: 21976412
2011
Fang S, Krahe R, Bachinski LL, Zhang B, Amos CI & Strong LC. Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers. Human Genetics 130(6):789-94. PMID: 21688173
Wu CC, Krahe R, Lozano G, Zhang B, Wilson CD, Jo EJ, Amos CI, Shete S & Strong LC. Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. Human Genetics 129(6):663-73. PMID: 21305319
Suominen T, Bachinski LL, Auvinen S, Hackman P, Baggerly KA, Angelini C, Peltonen L, Krahe R & Udd B. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Human Genetics 19(7):776-82. PMID: 21364698
Richards KL, Zhang B, Sun M, Dong W, Churchill J, Bachinski LL, Wilson CD, Baggerly KA, Yin G, Hayes DN, Wistuba, II & Krahe R. Methylation of the candidate biomarker TCF21 is very frequent across a spectrum of early-stage nonsmall cell lung cancers. Cancer 1;117(3):606-17. PMID: 20945327
Fang S, Krahe R, Bachinski LL, Zhang B, Amos CI & Strong LC. Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers. Human Genetics 130(6):789-94. PMID: 21688173
2010
Raheem O, Olufemi SE, Bachinski LL, Vihola A, Sirito M, Holmlund-Hampf J, Haapasalo H, Li YP, Udd B & Krahe R. Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. Am J Pathol 177(6): 3025–3036. PMID: 20971734
Bachinski LL, Sirito M, Bohme M, Baggerly KA, Udd B & Krahe R. Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders. Muscle Nerve 42(6):856-63. PMID: 21104860
Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, Baggerly KA, Raheem O, Haapasalo H, Suominen T, Holmlund-Hampf J, Paetau A, Cardani R, Meola G, Kalimo H, Edstrom L, Krahe R & Udd B. Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. Acta Neuropathol 119(4):465-79. PMID: 20066428
2005-2009
2009
Richards KL, Zhang B, Baggerly KA, Colella S, Lang JC, Schuller DE & Krahe R . Genome-wide hypomethylation in head and neck cancer is more pronounced in HPV-negative tumors and is associated with genomic instability. PLoS One 4(3):e4941 PMID: 19293934
Cheung HC, Hai T, Zhu W, Baggerly KA, Tsavachidis S, Krahe R & Cote GJ. Splicing factors PTBP1 and PTBP2 promote proliferation and migration of glioma cell lines. Brain 132(8): 2277–2288. PMID: 19506066
Salisbury E, Schoser B, Schneider-Gold C, Wang GL, Huichalaf C, Jin B, Sirito M, Sarkar P, Krahe R, Timchenko NA & Timchenko LT. Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am J Pathol 175(2):748-62. PMID: 19590039
Lott ST, Chen N, Chandler DS, Yang Q, Wang L, Rodriguez M, Xie H, Balasenthil S, Buchholz TA, Sahin AA, Chaung K, Zhang B, Olufemi SE, Chen J, Adams H, Band V, El-Naggar AK, Frazier ML, Keyomarsi K, Hunt KK, Sen S, Haffty B, Hewitt SM, Krahe R & Killary AM. DEAR1 is a dominant regulator of acinar morphogenesis and an independent predictor of local recurrence-free survival in early-onset breast cancer. PLoS Med 26;6(5). PMID: 19536326
Edwards SF, Sirito M, Krahe R & Sinden RR . A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeat. Proc Natl Acad Sci USA 106, 3270-3275. PMID: 19218442
Bachinski LL, Czernuszewicz T, Ramagli LS, Suominen T, Shriver MD, Udd B, Siciliano MJ & Krahe R. Premutation allele pool in myotonic dystrophy type 2. Neurology 72, 490-497. PMID: 19020295
Cheung HC, Baggerly KA, Tsavachidis S, Bachinski LL, Neubauer VL, Nixon TJ, Aldape KD, Cote GJ & Krahe R. Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays. BMC Genomics 9, 216. PMID: 18474104
2008
Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmuller H, Kress W & Udd B. High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. J Neurol 255(11):1731-6.PMID: 18807109
Colella S, Richards KL, Bachinski LL, Baggerly KA, Tsavachidis S, Lang JC, Schuller DE & Krahe R. Molecular signatures of metastasis in head and neck cancer. Head Neck 30(10):1273-83. PMID: 18642293
2007
Muller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aarimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A & Lochmuller H. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 130(Pt 6):1497-506. PMID: 17439981
Simeone AM, Nieves-Alicea R, McMurtry VC, Colella S, Krahe R & Tari AM. Cyclooxygenase-2 uses the protein kinase C/ interleukin-8/urokinase-type plasminogen activator pathway to increase the invasiveness of breast cancer cells. Int J Oncol 30(4):785-92. PMID: 17332916
2006
Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B & Moxley R. 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. Neuromuscul Disord 16(6):403-13. PMID: 16684600
Simeone AM, Colella S, Krahe R, Johnson MM, Mora E & Tari AM. N-(4-hydroxyphenyl)retinamide and nitric oxide pro-drugs exhibit apoptotic and anti-invasive effects against bone metastatic breast cancer cells. Carcinogenesis 27(3):568-77. PMID: 16199439
2005
Bachinski LL, Olufemi SE, Zhou X, Wu CC, Yip L, Shete S, Lozano G, Amos CI, Strong LC & Krahe R. Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. Cancer Res 15;65(2):427-31 PMID: 15695383
Rotondo G, Sansone V, Cardani R, Mancinelli E, Krahe R, Stangalini D & Meola G. Proximal myotonic dystrophy mimicking progressive muscular atrophy. Eur J Neurol 12, 160-161. PMID: 15679706
Ruteshouser EC, Hendrickson BW, Colella S, Krahe R, Pinto L & Huff V. Genome-wide loss of heterozygosity analysis of WT1-wild-type and WT1-mutant Wilms tumors. Genes Chromosomes Cancer 43(2):172-80. PMID: 15761866
2000-2004
2004
Grewal RP, Zhang S, Ma W, Rosenberg M & Krahe R. Clinical and genetic analysis of a family with PROMM. J Clin Neurosci 11(6):603-5. PMID: 15261229
Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, Zhang S, Sirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessman M, Krahe R & Udd B. New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2). Neuromuscul Disord 14(4):274-83. PMID: 15019706
Tanner SM, Li Z, Bisson R, Acar C, Oner C, Oner R, Cetin M, Abdelaal MA, Ismail EA, Lissens W, Krahe R, Broch H, Grasbeck R & de la Chapelle A. Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. Hum Mutat 23(4):327-33. PMID: 15024727
2003
Miller BJ, Wang D, Krahe R & Wright FA. Pooled analysis of loss of heterozygosity in breast cancer: a genome scan provides comparative evidence for multiple tumor suppressors and identifies novel candidate regions. Am J Hum Genet 73(4):748-67 PMID: 13680524
Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA & Krahe R. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet 73(4):835-48. PMID: 12970845
Colella S, Shen L, Baggerly KA, Issa JP & Krahe R. Sensitive and quantitative universal Pyrosequencing methylation analysis of CpG sites. Biotechniques 35(1):146-50. PMID: 12866414
Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, Mancinelli E, Rouche A, Hogrel JY, Laforet P, Maisonobe T, Pellissier JF, Krahe R, Eymard B & Udd B. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 10;60(11):1854-7. PMID: 12796551
2002
Lemon WJ, Palatini JJ, Krahe R & Wright FA. Theoretical and experimental comparisons of gene expression indexes for oligonucleotide arrays. Bioinformatics 18(11):1470-6. PMID: 12424118
Zhang S & Krahe R. Physical and transcript map of a 2-Mb region in Xp22.1 containing candidate genes for X-linked mental retardation and short stature. Genomics 79(3):274-7 PMID: 11863356
2001
Virtaneva K, Wright FA, Tanner SM, Yuan B, Lemon WJ, Caligiuri MA, Bloomfield CD, de La Chapelle A & Krahe R. Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics. Proc Natl Acad Sci USA 30;98(3):1124-9. PMID: 11158605
Paakkonen K, Sauramo S, Sarantaus L, Vahteristo P, Hartikainen A, Vehmanen P, Ignatius J, Ollikainen V, Kaariainen H, Vauramo E, Nevanlinna H, Krahe R, Holli K & Kere J. Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population. Genet Epidemiol 20(2):239-46 PMID: 11180449
Rantamaki M, Krahe R, Paetau A, Cormand B, Mononen I & Udd B. Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. Neurology 25;57(6):1043-9. PMID: 11571332
Barkardottir RB, Sarantaus L, Arason A, Vehmanen P, Bendahl PO, Kainu T, Syrjakoski K, Krahe R, Huusko P, Pyrhonen S, Holli K, Kallioniemi OP, Egilsson V, Kere J & Nevanlinna H. Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families. Eur J Hum Genet 9(10):773-9. PMID: 11781689
Wright FA, Lemon WJ, Zhao WD, Sears R, Zhuo D, Wang JP, Yang HY, Baer T, Stredney D, Spitzner J, Stutz A, Krahe R & Yuan B. A draft annotation and overview of the human genome. Genome Biol 2(7):RESEARCH0025.. PMID: 11516338
2000
Sarantaus L, Huusko P, Eerola H, Launonen V, Vehmanen P, Rapakko K, Gillanders E, Syrjakoski K, Kainu T, Vahteristo P, Krahe R, Paakkonen K, Hartikainen J, Blomqvist C, Lopponen T, Holli K, Ryynanen M, Butzow R, Borg A, Wasteson Arver B, Holmberg E, Mannermaa A, Kere J, Kallioniemi OP, Winqvist R & Nevanlinna H. Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur J Hum Genet 8(10):757-63 PMID: 11039575
Wise DO, Krahe R & Oakley BR. The γ-Tubulin Gene Family in Humans. Genomics 15;67(2):164-70. PMID: 10903841
Fruhwald MC, O'Dorisio MS, Rush LJ, Reiter JL, Smiraglia DJ, Wenger G, Costello JF, White PS, Krahe R, Brodeur GM & Plass C. Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon. J Med Genet 37(7):501-9. PMID: 10882752
Kristiansen M, Aminoff M, Jacobsen C, de La Chapelle A, Krahe R, Verroust PJ & Moestrup SK . Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. Blood 15;96(2):405-9. PMID: 10887099
Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H & de la Chapelle A. Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet 25(1):91-5. PMID: 10802664
1995-1999
1999
Kozyraki R, Fyfe J, Kristiansen M, Gerdes C, Jacobsen C, Cui S, Christensen EI, Aminoff M, de la Chapelle A, Krahe R, Verroust PJ & Moestrup SK. The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein. Nat Med 5(6):656-61. PMID: 10371504
Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A & Krahe R. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet 21(3):309-13. PMID: 10080186
1998
Virtaneva K, Paulin L, Krahe R, de la Chapelle A & Lehesjoki AE. The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Hum Mutat 12(3):218. PMID: 10660338
1997
Bachinski LL, Abchee A, Durand JB, Roberts R, Krahe R & Hobson GM. Polymorphic trinucleotide repeat in the MEF2A gene at 15q26 is not expanded in familial cardiomyopathies. Mol Cell Probes 11(1):55-8. PMID: 9076715
Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A & Lehesjoki AE. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 15(4):393-6. PMID: 9090386
Udd B, Krahe R, Wallgren-Pettersson C, Falck B & Kalimo H. Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 7(4):217-28 PMID: 9196902
1996
Abbruzzese C, Krahe R, Liguori M, Tessarolo D, Siciliano MJ, Ashizawa T & Giacanelli M. Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? J Neurol 243(10):715-21. PMID: 8923304
Iyer GS, Krahe R, Goodwin LA, Doggett NA, Siciliano MJ, Funanage VL & Proujansky R. Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28. Genomics 15;34(1):143-6. PMID: 8661037
1995
Hobson GM, Krahe R, Garcia E, Siciliano MJ & Funanage VL. Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23. Genomics 10;29(3):704-11 PMID: 8575763
Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji P, Bailey ME, Chartier FL & et al.. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Genet 4(10):1919-25.. PMID: 8595416
Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage VL & Siciliano MJ. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 1;28(1):1-14.. PMID: 7590731
Krahe R, Eckhart M, Ogunniyi AO, Osuntokun BO, Siciliano MJ & Ashizawa T. De novo myotonic dystrophy mutation in a Nigerian kindred. Am J Hum Genet 56(5):1067-74. PMID: 7726160
Book Chapters
Miano JM, Garcia E, Krahe R. High Resolution Radiation Hybrid (RH) Mapping of Human Smooth Muscle-Restricted Genes. In: Molecular Biology of Vascular Diseases, Methods in Molecular Medicine Series. Humana Press, 25-35, 1999.
Krahe R, Bachinski LL, Udd B. Myotonic Dystrophy Type 2 (DM2): Clinical and Genetic Aspects. In: Genetic Instabilities and Neurological Diseases. Elsevier/Academic Press, 2005.