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Items: 1 to 50 of 419

1.

Deficiency of nucleotide excision repair is associated with mutational signature observed in cancer.

Jager M, Blokzijl F, Kuijk E, Bertl J, Vougioukalaki M, Janssen R, Besselink N, Boymans S, de Ligt J, Pedersen JS, Hoeijmakers J, Pothof J, van Boxtel R, Cuppen E.

Genome Res. 2019 Jun 20. doi: 10.1101/gr.246223.118. [Epub ahead of print]

2.

Compression of morbidity in a progeroid mouse model through the attenuation of myostatin/activin signalling.

Alyodawi K, Vermeij WP, Omairi S, Kretz O, Hopkinson M, Solagna F, Joch B, Brandt RMC, Barnhoorn S, van Vliet N, Ridwan Y, Essers J, Mitchell R, Morash T, Pasternack A, Ritvos O, Matsakas A, Collins-Hooper H, Huber TB, Hoeijmakers JHJ, Patel K.

J Cachexia Sarcopenia Muscle. 2019 Mar 27. doi: 10.1002/jcsm.12404. [Epub ahead of print]

3.

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1.

Eijkenboom I, Vanoevelen JM, Hoeijmakers JGJ, Wijnen I, Gerards M, Faber CG, Smeets HJM.

Mitochondrion. 2019 Jan 22. pii: S1567-7249(18)30060-6. doi: 10.1016/j.mito.2019.01.002. [Epub ahead of print]

PMID:
30677530
4.

Lacosamide in patients with Nav1.7 mutations-related small fibre neuropathy: a randomized controlled trial.

de Greef BTA, Hoeijmakers JGJ, Geerts M, Oakes M, Church TJE, Waxman SG, Dib-Hajj SD, Faber CG, Merkies ISJ.

Brain. 2019 Feb 1;142(2):263-275. doi: 10.1093/brain/awy329.

PMID:
30649227
5.

Small-fiber neuropathy: Expanding the clinical pain universe.

Sopacua M, Hoeijmakers JGJ, Merkies ISJ, Lauria G, Waxman SG, Faber CG.

J Peripher Nerv Syst. 2019 Mar;24(1):19-33. doi: 10.1111/jns.12298. Epub 2019 Jan 8. Review.

PMID:
30569495
6.

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Eijkenboom I, Sopacua M, Hoeijmakers JGJ, de Greef BTA, Lindsey P, Almomani R, Marchi M, Vanoevelen J, Smeets HJM, Waxman SG, Lauria G, Merkies ISJ, Faber CG, Gerrits MM.

J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):342-352. doi: 10.1136/jnnp-2018-319042. Epub 2018 Dec 15.

PMID:
30554136
7.

The Pain Dynamics of Small Fiber Neuropathy.

Brouwer BA, van Kuijk SMJ, Bouwhuis A, Faber CG, van Kleef M, Merkies ISJ, Hoeijmakers JGJ.

J Pain. 2019 Jun;20(6):655-663. doi: 10.1016/j.jpain.2018.11.009. Epub 2018 Dec 8.

PMID:
30529697
8.

Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy.

Eijkenboom I, Sopacua M, Otten ABC, Gerrits MM, Hoeijmakers JGJ, Waxman SG, Lombardi R, Lauria G, Merkies ISJ, Smeets HJM, Faber CG, Vanoevelen JM; PROPANE Study Group.

Exp Neurol. 2019 Jan;311:257-264. doi: 10.1016/j.expneurol.2018.10.008. Epub 2018 Oct 11.

9.

DNA damage sensitivity of SWI/SNF-deficient cells depends on TFIIH subunit p62/GTF2H1.

Ribeiro-Silva C, Aydin ÖZ, Mesquita-Ribeiro R, Slyskova J, Helfricht A, Marteijn JA, Hoeijmakers JHJ, Lans H, Vermeulen W.

Nat Commun. 2018 Oct 4;9(1):4067. doi: 10.1038/s41467-018-06402-y.

10.

DNA damage-induced replication stress results in PA200-proteasome-mediated degradation of acetylated histones.

Mandemaker IK, Geijer ME, Kik I, Bezstarosti K, Rijkers E, Raams A, Janssens RC, Lans H, Hoeijmakers JH, Demmers JA, Vermeulen W, Marteijn JA.

EMBO Rep. 2018 Oct;19(10). pii: e45566. doi: 10.15252/embr.201745566. Epub 2018 Aug 13.

11.

Activation of the DNA damage response in vivo in synucleinopathy models of Parkinson's disease.

Milanese C, Cerri S, Ulusoy A, Gornati SV, Plat A, Gabriels S, Blandini F, Di Monte DA, Hoeijmakers JH, Mastroberardino PG.

Cell Death Dis. 2018 Jul 26;9(8):818. doi: 10.1038/s41419-018-0848-7.

12.

Nuclear Genomic Instability and Aging.

Niedernhofer LJ, Gurkar AU, Wang Y, Vijg J, Hoeijmakers JHJ, Robbins PD.

Annu Rev Biochem. 2018 Jun 20;87:295-322. doi: 10.1146/annurev-biochem-062917-012239. Review.

PMID:
29925262
13.

A Systematic Review and Meta-Analysis on Outcomes and Complications of Percutaneous Endoscopic Versus Radiologic Gastrostomy for Enteral Feeding.

Strijbos D, Keszthelyi D, Bogie RMM, Gilissen LPL, Lacko M, Hoeijmakers JGJ, van der Leij C, de Ridder R, de Haan MW, Masclee AAM.

J Clin Gastroenterol. 2018 Oct;52(9):753-764. doi: 10.1097/MCG.0000000000001082.

PMID:
29924079
14.

Mystery Case: Superior oblique myokymia: An uncommon cause of intermittent diplopia.

Joosten IBT, Hoeijmakers JGJ.

Neurology. 2018 Feb 27;90(9):e814. doi: 10.1212/WNL.0000000000005028. No abstract available.

PMID:
29483324
15.

Vitamin E Supplementation Reduces Cellular Loss in the Brain of a Premature Aging Mouse Model.

La Fata G, van Vliet N, Barnhoorn S, Brandt RMC, Etheve S, Chenal E, Grunenwald C, Seifert N, Weber P, Hoeijmakers JHJ, Mohajeri MH, Vermeij WP.

J Prev Alzheimers Dis. 2017;4(4):226-235. doi: 10.14283/jpad.2017.30.

16.

DNA damage-induced histone H1 ubiquitylation is mediated by HUWE1 and stimulates the RNF8-RNF168 pathway.

Mandemaker IK, van Cuijk L, Janssens RC, Lans H, Bezstarosti K, Hoeijmakers JH, Demmers JA, Vermeulen W, Marteijn JA.

Sci Rep. 2017 Nov 10;7(1):15353. doi: 10.1038/s41598-017-15194-y.

17.

Associated conditions in small fiber neuropathy - a large cohort study and review of the literature.

de Greef BTA, Hoeijmakers JGJ, Gorissen-Brouwers CML, Geerts M, Faber CG, Merkies ISJ.

Eur J Neurol. 2018 Feb;25(2):348-355. doi: 10.1111/ene.13508. Epub 2017 Dec 18. Review.

18.

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.

Theil AF, Mandemaker IK, van den Akker E, Swagemakers SMA, Raams A, Wüst T, Marteijn JA, Giltay JC, Colombijn RM, Moog U, Kotzaeridou U, Ghazvini M, von Lindern M, Hoeijmakers JHJ, Jaspers NGJ, van der Spek PJ, Vermeulen W.

Hum Mol Genet. 2017 Dec 1;26(23):4689-4698. doi: 10.1093/hmg/ddx351.

19.

Dietary restriction but not angiotensin II type 1 receptor blockade improves DNA damage-related vasodilator dysfunction in rapidly aging Ercc1Δ/- mice.

Wu H, van Thiel BS, Bautista-Niño PK, Reiling E, Durik M, Leijten FPJ, Ridwan Y, Brandt RMC, van Steeg H, Dollé MET, Vermeij WP, Hoeijmakers JHJ, Essers J, van der Pluijm I, Danser AHJ, Roks AJM.

Clin Sci (Lond). 2017 Jul 13;131(15):1941-1953. doi: 10.1042/CS20170026. Print 2017 Aug 1.

PMID:
28620011
20.

Cellular senescence drives age-dependent hepatic steatosis.

Ogrodnik M, Miwa S, Tchkonia T, Tiniakos D, Wilson CL, Lahat A, Day CP, Burt A, Palmer A, Anstee QM, Grellscheid SN, Hoeijmakers JHJ, Barnhoorn S, Mann DA, Bird TG, Vermeij WP, Kirkland JL, Passos JF, von Zglinicki T, Jurk D.

Nat Commun. 2017 Jun 13;8:15691. doi: 10.1038/ncomms15691.

21.

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.

Hellebrekers DMEI, Sallevelt SCEH, Theunissen TEJ, Hendrickx ATM, Gottschalk RW, Hoeijmakers JGJ, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJM.

Eur J Hum Genet. 2017 Jun;25(7):886-888. doi: 10.1038/ejhg.2017.62. Epub 2017 Apr 26.

22.

Targeted Apoptosis of Senescent Cells Restores Tissue Homeostasis in Response to Chemotoxicity and Aging.

Baar MP, Brandt RMC, Putavet DA, Klein JDD, Derks KWJ, Bourgeois BRM, Stryeck S, Rijksen Y, van Willigenburg H, Feijtel DA, van der Pluijm I, Essers J, van Cappellen WA, van IJcken WF, Houtsmuller AB, Pothof J, de Bruin RWF, Madl T, Hoeijmakers JHJ, Campisi J, de Keizer PLJ.

Cell. 2017 Mar 23;169(1):132-147.e16. doi: 10.1016/j.cell.2017.02.031.

23.

A signature of renal stress resistance induced by short-term dietary restriction, fasting, and protein restriction.

Jongbloed F, Saat TC, Verweij M, Payan-Gomez C, Hoeijmakers JH, van den Engel S, van Oostrom CT, Ambagtsheer G, Imholz S, Pennings JL, van Steeg H, IJzermans JN, Dollé ME, de Bruin RW.

Sci Rep. 2017 Jan 19;7:40901. doi: 10.1038/srep40901.

24.

After surviving cancer, what about late life effects of the cure?

Nonnekens J, Hoeijmakers JH.

EMBO Mol Med. 2017 Jan;9(1):4-6. doi: 10.15252/emmm.201607062. No abstract available.

25.

A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels.

Rolyan H, Liu S, Hoeijmakers JG, Faber CG, Merkies IS, Lauria G, Black JA, Waxman SG.

Mol Pain. 2016 Nov 7;12. pii: 1744806916674472. Print 2016.

26.

Supplementation with Lactobacillus plantarum WCFS1 Prevents Decline of Mucus Barrier in Colon of Accelerated Aging Ercc1-/Δ7 Mice.

van Beek AA, Sovran B, Hugenholtz F, Meijer B, Hoogerland JA, Mihailova V, van der Ploeg C, Belzer C, Boekschoten MV, Hoeijmakers JH, Vermeij WP, de Vos P, Wells JM, Leenen PJ, Nicoletti C, Hendriks RW, Savelkoul HF.

Front Immunol. 2016 Oct 7;7:408. eCollection 2016.

27.

Small Fiber Neuropathy in Children: Two Case Reports Illustrating the Importance of Recognition.

Hoeijmakers JG, Faber CG, Miedema CJ, Merkies IS, Vles JS.

Pediatrics. 2016 Oct;138(4). pii: e20161215.

28.

Menopause: Genome stability as new paradigm.

Laven JSE, Visser JA, Uitterlinden AG, Vermeij WP, Hoeijmakers JHJ.

Maturitas. 2016 Oct;92:15-23. doi: 10.1016/j.maturitas.2016.07.006. Epub 2016 Jul 9. Review.

PMID:
27621233
29.

Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice.

Vermeij WP, Dollé ME, Reiling E, Jaarsma D, Payan-Gomez C, Bombardieri CR, Wu H, Roks AJ, Botter SM, van der Eerden BC, Youssef SA, Kuiper RV, Nagarajah B, van Oostrom CT, Brandt RM, Barnhoorn S, Imholz S, Pennings JL, de Bruin A, Gyenis Á, Pothof J, Vijg J, van Steeg H, Hoeijmakers JH.

Nature. 2016 Sep 15;537(7620):427-431. doi: 10.1038/nature19329. Epub 2016 Aug 24.

30.

Intravenous immunoglobulin therapy for small fiber neuropathy: study protocol for a randomized controlled trial.

de Greef BT, Geerts M, Hoeijmakers JG, Faber CG, Merkies IS.

Trials. 2016 Jul 20;17(1):330. doi: 10.1186/s13063-016-1450-x.

31.

Frontline Science: Tryptophan restriction arrests B cell development and enhances microbial diversity in WT and prematurely aging Ercc1-/Δ7 mice.

van Beek AA, Hugenholtz F, Meijer B, Sovran B, Perdijk O, Vermeij WP, Brandt RM, Barnhoorn S, Hoeijmakers JH, de Vos P, Leenen PJ, Hendriks RW, Savelkoul HF.

J Leukoc Biol. 2017 Apr;101(4):811-821. doi: 10.1189/jlb.1HI0216-062RR. Epub 2016 Jul 14.

PMID:
27418353
32.
33.

Inefficient DNA Repair Is an Aging-Related Modifier of Parkinson's Disease.

Sepe S, Milanese C, Gabriels S, Derks KW, Payan-Gomez C, van IJcken WF, Rijksen YM, Nigg AL, Moreno S, Cerri S, Blandini F, Hoeijmakers JH, Mastroberardino PG.

Cell Rep. 2016 May 31;15(9):1866-75. doi: 10.1016/j.celrep.2016.04.071. Epub 2016 May 19.

34.

Sodium Channels, Mitochondria, and Axonal Degeneration in Peripheral Neuropathy.

Persson AK, Hoeijmakers JGJ, Estacion M, Black JA, Waxman SG.

Trends Mol Med. 2016 May;22(5):377-390. doi: 10.1016/j.molmed.2016.03.008. Epub 2016 Apr 13. Review.

PMID:
27085813
35.

Tissue-Specific Suppression of Thyroid Hormone Signaling in Various Mouse Models of Aging.

Visser WE, Bombardieri CR, Zevenbergen C, Barnhoorn S, Ottaviani A, van der Pluijm I, Brandt R, Kaptein E, van Heerebeek R, van Toor H, Garinis GA, Peeters RP, Medici M, van Ham W, Vermeij WP, de Waard MC, de Krijger RR, Boelen A, Kwakkel J, Kopchick JJ, List EO, Melis JP, Darras VM, Dollé ME, van der Horst GT, Hoeijmakers JH, Visser TJ.

PLoS One. 2016 Mar 8;11(3):e0149941. doi: 10.1371/journal.pone.0149941. eCollection 2016.

36.

Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis.

Matsumura H, Mohri Y, Binh NT, Morinaga H, Fukuda M, Ito M, Kurata S, Hoeijmakers J, Nishimura EK.

Science. 2016 Feb 5;351(6273):aad4395. doi: 10.1126/science.aad4395. Epub 2016 Feb 4.

37.

Altered lipid metabolism in the aging kidney identified by three layered omic analysis.

Braun F, Rinschen MM, Bartels V, Frommolt P, Habermann B, Hoeijmakers JH, Schumacher B, Dollé ME, Müller RU, Benzing T, Schermer B, Kurschat CE.

Aging (Albany NY). 2016 Mar;8(3):441-57.

38.

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.

de Greef BT, Hoeijmakers JG, Wolters EE, Smeets HJ, van den Wijngaard A, Merkies IS, Faber CG, Gerrits MM.

PLoS One. 2016 Feb 11;11(2):e0148316. doi: 10.1371/journal.pone.0148316. eCollection 2016.

39.

Tumor slice culture system to assess drug response of primary breast cancer.

Naipal KA, Verkaik NS, Sánchez H, van Deurzen CH, den Bakker MA, Hoeijmakers JH, Kanaar R, Vreeswijk MP, Jager A, van Gent DC.

BMC Cancer. 2016 Feb 9;16:78. doi: 10.1186/s12885-016-2119-2.

40.

Painful Diabetic Neuropathy Anxiety Rasch-Transformed Questionnaire (PART-Q30(©) ).

Geelen CC, Brouwer BA, Hoeijmakers JG, Faber CG, Merkies IS, Verbunt JA.

J Peripher Nerv Syst. 2016 Jun;21(2):96-104. doi: 10.1111/jns.12162.

PMID:
26840031
41.

Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologous Recombination and Genome Stability.

Trego KS, Groesser T, Davalos AR, Parplys AC, Zhao W, Nelson MR, Hlaing A, Shih B, Rydberg B, Pluth JM, Tsai MS, Hoeijmakers JHJ, Sung P, Wiese C, Campisi J, Cooper PK.

Mol Cell. 2016 Feb 18;61(4):535-546. doi: 10.1016/j.molcel.2015.12.026. Epub 2016 Jan 28.

42.

Whole chromosome aneuploidy in the brain of Bub1bH/H and Ercc1-/Δ7 mice.

Andriani GA, Faggioli F, Baker D, Dollé ME, Sellers RS, Hébert JM, Van Steeg H, Hoeijmakers J, Vijg J, Montagna C.

Hum Mol Genet. 2016 Feb 15;25(4):755-65. doi: 10.1093/hmg/ddv612. Epub 2015 Dec 17.

43.

Genome Integrity in Aging: Human Syndromes, Mouse Models, and Therapeutic Options.

Vermeij WP, Hoeijmakers JH, Pothof J.

Annu Rev Pharmacol Toxicol. 2016;56:427-45. doi: 10.1146/annurev-pharmtox-010814-124316. Epub 2015 Oct 28. Review.

PMID:
26514200
44.

Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale.

Hermans MC, Hoeijmakers JG, Faber CG, Merkies IS.

PLoS One. 2015 Oct 20;10(10):e0139944. doi: 10.1371/journal.pone.0139944. eCollection 2015.

45.

Phosphodiesterase 1 regulation is a key mechanism in vascular aging.

Bautista Niño PK, Durik M, Danser AH, de Vries R, Musterd-Bhaggoe UM, Meima ME, Kavousi M, Ghanbari M, Hoeijmakers JH, O'Donnell CJ, Franceschini N, Janssen GM, De Mey JG, Liu Y, Shanahan CM, Franco OH, Dehghan A, Roks AJ.

Clin Sci (Lond). 2015 Dec;129(12):1061-75. doi: 10.1042/CS20140753. Epub 2015 Jun 25.

PMID:
26464516
46.

Check, Check …Triple Check: Multi-Step DNA Lesion Identification by Nucleotide Excision Repair.

Marteijn JA, Hoeijmakers JH, Vermeulen W.

Mol Cell. 2015 Sep 17;59(6):885-6. doi: 10.1016/j.molcel.2015.09.007.

47.

Targeted inhibition of metastatic melanoma through interference with Pin1-FOXM1 signaling.

Kruiswijk F, Hasenfuss SC, Sivapatham R, Baar MP, Putavet D, Naipal KA, van den Broek NJ, Kruit W, van der Spek PJ, van Gent DC, Brenkman AB, Campisi J, Burgering BM, Hoeijmakers JH, de Keizer PL.

Oncogene. 2016 Apr 28;35(17):2166-77. doi: 10.1038/onc.2015.282. Epub 2015 Aug 17.

48.

Neuropathic Pain due to Small Fiber Neuropathy in Aging: Current Management and Future Prospects.

Brouwer BA, de Greef BT, Hoeijmakers JG, Geerts M, van Kleef M, Merkies IS, Faber CG.

Drugs Aging. 2015 Aug;32(8):611-21. doi: 10.1007/s40266-015-0283-8. Review.

49.

Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation.

Estacion M, Vohra BP, Liu S, Hoeijmakers J, Faber CG, Merkies IS, Lauria G, Black JA, Waxman SG.

J Neurophysiol. 2015 Sep;114(3):1554-64. doi: 10.1152/jn.00195.2015. Epub 2015 Jul 8.

50.

Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison.

Vanhoutte EK, Draak TH, Gorson KC, van Nes SI, Hoeijmakers JG, Van der Pol WL, Notermans NC, Lewis RA, Nobile-Orazio E, Léger JM, Van den Bergh PY, Lauria G, Bril V, Katzberg H, Lunn MP, Pouget J, van der Kooi AJ, Hahn AF, van Doorn PA, Cornblath DR, van den Berg LH, Faber CG, Merkies IS; PeriNomS Study Group.

J Peripher Nerv Syst. 2015 Sep;20(3):289-95. doi: 10.1111/jns.12118.

PMID:
26114893

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