Selected Publications

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.

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.

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

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

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

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

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