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Items: 1 to 50 of 66

1.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM.

Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25.

PMID:
31353023
2.

Functional characterisation of a novel class of in-frame insertion variants of KRAS and HRAS.

Eijkelenboom A, van Schaik FMA, van Es RM, Ten Broek RW, Rinne T, van der Vleuten C, Flucke U, Ligtenberg MJL, Rehmann H.

Sci Rep. 2019 Jun 3;9(1):8239. doi: 10.1038/s41598-019-44584-7.

3.

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.

Rumping L, Büttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R.

JAMA Neurol. 2019 Mar 1;76(3):342-350. doi: 10.1001/jamaneurol.2018.2941.

PMID:
30575854
4.

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM.

Hum Mol Genet. 2019 Jan 1;28(1):96-104. doi: 10.1093/hmg/ddy330.

PMID:
30239721
5.

Identification of a Novel, Small Molecule Partial Agonist for the Cyclic AMP Sensor, EPAC1.

Parnell E, McElroy SP, Wiejak J, Baillie GL, Porter A, Adams DR, Rehmann H, Smith BO, Yarwood SJ.

Sci Rep. 2017 Mar 22;7(1):294. doi: 10.1038/s41598-017-00455-7.

6.

Ras Association-Domain Dimers Bring Proteins Together.

Rehmann H, Bos JL.

Structure. 2016 Dec 6;24(12):2039-2040. doi: 10.1016/j.str.2016.11.010.

7.

Interaction of Epac with Non-canonical Cyclic Nucleotides.

Rehmann H.

Handb Exp Pharmacol. 2017;238:135-147. doi: 10.1007/164_2015_37. Review.

PMID:
27900608
8.

The small GTPase RALA controls c-Jun N-terminal kinase-mediated FOXO activation by regulation of a JIP1 scaffold complex.

van den Berg MC, van Gogh IJ, Smits AM, van Triest M, Dansen TB, Visscher M, Polderman PE, Vliem MJ, Rehmann H, Burgering BM.

J Biol Chem. 2016 Jan 15;291(3):1200. doi: 10.1074/jbc.A113.463885. No abstract available.

9.

The structure of the Guanine Nucleotide Exchange Factor Rlf in complex with the small G-protein Ral identifies conformational intermediates of the exchange reaction and the basis for the selectivity.

Popovic M, Schouten A, Rensen-de Leeuw M, Rehmann H.

J Struct Biol. 2016 Feb;193(2):106-14. doi: 10.1016/j.jsb.2015.12.006. Epub 2015 Dec 11.

PMID:
26687416
10.

Efficient intracellular delivery of native proteins.

D'Astolfo DS, Pagliero RJ, Pras A, Karthaus WR, Clevers H, Prasad V, Lebbink RJ, Rehmann H, Geijsen N.

Cell. 2015 Apr 23;161(3):674-690. doi: 10.1016/j.cell.2015.03.028.

11.

Novel Epac fluorescent ligand reveals distinct Epac1 vs. Epac2 distribution and function in cardiomyocytes.

Pereira L, Rehmann H, Lao DH, Erickson JR, Bossuyt J, Chen J, Bers DM.

Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):3991-6. doi: 10.1073/pnas.1416163112. Epub 2015 Mar 17.

12.

Structure-guided design of selective Epac1 and Epac2 agonists.

Schwede F, Bertinetti D, Langerijs CN, Hadders MA, Wienk H, Ellenbroek JH, de Koning EJ, Bos JL, Herberg FW, Genieser HG, Janssen RA, Rehmann H.

PLoS Biol. 2015 Jan 20;13(1):e1002038. doi: 10.1371/journal.pbio.1002038. eCollection 2015 Jan.

13.

cNMP-AMs mimic and dissect bacterial nucleotidyl cyclase toxin effects.

Beckert U, Grundmann M, Wolter S, Schwede F, Rehmann H, Kaever V, Kostenis E, Seifert R.

Biochem Biophys Res Commun. 2014 Sep 5;451(4):497-502. doi: 10.1016/j.bbrc.2014.07.134. Epub 2014 Aug 7.

PMID:
25108158
14.

Cyclic nucleotide mapping of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels.

Möller S, Alfieri A, Bertinetti D, Aquila M, Schwede F, Lolicato M, Rehmann H, Moroni A, Herberg FW.

ACS Chem Biol. 2014 May 16;9(5):1128-37. doi: 10.1021/cb400904s. Epub 2014 Mar 7.

PMID:
24605759
15.

Epac-inhibitors: facts and artefacts.

Rehmann H.

Sci Rep. 2013 Oct 23;3:3032. doi: 10.1038/srep03032.

16.

The guanine nucleotide exchange factor Rlf interacts with SH3 domain-containing proteins via a binding site with a preselected conformation.

Popovic M, Jakobi AJ, Rensen-de Leeuw M, Rehmann H.

J Struct Biol. 2013 Sep;183(3):312-319. doi: 10.1016/j.jsb.2013.07.009. Epub 2013 Jul 24.

PMID:
23891840
17.

The small GTPase RALA controls c-Jun N-terminal kinase-mediated FOXO activation by regulation of a JIP1 scaffold complex.

van den Berg MC, van Gogh IJ, Smits AM, van Triest M, Dansen TB, Visscher M, Polderman PE, Vliem MJ, Rehmann H, Burgering BM.

J Biol Chem. 2013 Jul 26;288(30):21729-41. doi: 10.1074/jbc.M113.463885. Epub 2013 Jun 14. Erratum in: J Biol Chem. 2016 Jan 15;291(3):1200.

18.

Selectivity of CDC25 homology domain-containing guanine nucleotide exchange factors.

Popovic M, Rensen-de Leeuw M, Rehmann H.

J Mol Biol. 2013 Aug 9;425(15):2782-94. doi: 10.1016/j.jmb.2013.04.031. Epub 2013 May 7.

PMID:
23659792
19.

Rap1 and Rap2 antagonistically control endothelial barrier resistance.

Pannekoek WJ, Linnemann JR, Brouwer PM, Bos JL, Rehmann H.

PLoS One. 2013;8(2):e57903. doi: 10.1371/journal.pone.0057903. Epub 2013 Feb 28.

20.

Vinculin-dependent Cadherin mechanosensing regulates efficient epithelial barrier formation.

Twiss F, Le Duc Q, Van Der Horst S, Tabdili H, Van Der Krogt G, Wang N, Rehmann H, Huveneers S, Leckband DE, De Rooij J.

Biol Open. 2012 Nov 15;1(11):1128-40. doi: 10.1242/bio.20122428. Epub 2012 Sep 11.

21.

Vinculin associates with endothelial VE-cadherin junctions to control force-dependent remodeling.

Huveneers S, Oldenburg J, Spanjaard E, van der Krogt G, Grigoriev I, Akhmanova A, Rehmann H, de Rooij J.

J Cell Biol. 2012 Mar 5;196(5):641-52. doi: 10.1083/jcb.201108120.

22.

Resveratrol ameliorates aging-related metabolic phenotypes by inhibiting cAMP phosphodiesterases.

Park SJ, Ahmad F, Philp A, Baar K, Williams T, Luo H, Ke H, Rehmann H, Taussig R, Brown AL, Kim MK, Beaven MA, Burgin AB, Manganiello V, Chung JH.

Cell. 2012 Feb 3;148(3):421-33. doi: 10.1016/j.cell.2012.01.017.

23.

Epac2: a sulfonylurea receptor?

Rehmann H.

Biochem Soc Trans. 2012 Feb;40(1):6-10. doi: 10.1042/BST20110640.

PMID:
22260657
24.

Photodynamic therapy as novel nephron sparing treatment option for small renal masses.

Kroeze SG, Grimbergen MC, Rehmann H, Bosch JL, Jans JJ.

J Urol. 2012 Jan;187(1):289-95. doi: 10.1016/j.juro.2011.09.006. Epub 2011 Nov 17.

PMID:
22099991
25.

Bmp and nodal independently regulate lefty1 expression to maintain unilateral nodal activity during left-right axis specification in zebrafish.

Smith KA, Noël E, Thurlings I, Rehmann H, Chocron S, Bakkers J.

PLoS Genet. 2011 Sep;7(9):e1002289. doi: 10.1371/journal.pgen.1002289. Epub 2011 Sep 29.

26.

Epac1 and PDZ-GEF cooperate in Rap1 mediated endothelial junction control.

Pannekoek WJ, van Dijk JJ, Chan OY, Huveneers S, Linnemann JR, Spanjaard E, Brouwer PM, van der Meer AJ, Zwartkruis FJ, Rehmann H, de Rooij J, Bos JL.

Cell Signal. 2011 Dec;23(12):2056-64. doi: 10.1016/j.cellsig.2011.07.022. Epub 2011 Aug 4.

PMID:
21840392
27.

The nucleoporin RanBP2 tethers the cAMP effector Epac1 and inhibits its catalytic activity.

Gloerich M, Vliem MJ, Prummel E, Meijer LA, Rensen MG, Rehmann H, Bos JL.

J Cell Biol. 2011 Jun 13;193(6):1009-20. doi: 10.1083/jcb.201011126.

28.

Rin-like, a novel regulator of endocytosis, acts as guanine nucleotide exchange factor for Rab5a and Rab22.

Woller B, Luiskandl S, Popovic M, Prieler BE, Ikonge G, Mutzl M, Rehmann H, Herbst R.

Biochim Biophys Acta. 2011 Jun;1813(6):1198-210. doi: 10.1016/j.bbamcr.2011.03.005. Epub 2011 Mar 17.

29.

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

Runtuwene V, van Eekelen M, Overvoorde J, Rehmann H, Yntema HG, Nillesen WM, van Haeringen A, van der Burgt I, Burgering B, den Hertog J.

Dis Model Mech. 2011 May;4(3):393-9. doi: 10.1242/dmm.007112. Epub 2011 Jan 24.

30.

Spatial regulation of cyclic AMP-Epac1 signaling in cell adhesion by ERM proteins.

Gloerich M, Ponsioen B, Vliem MJ, Zhang Z, Zhao J, Kooistra MR, Price LS, Ritsma L, Zwartkruis FJ, Rehmann H, Jalink K, Bos JL.

Mol Cell Biol. 2010 Nov;30(22):5421-31. doi: 10.1128/MCB.00463-10. Epub 2010 Sep 20.

31.

The Rap1 guanine nucleotide exchange factor C3G is required for preservation of larval muscle integrity in Drosophila melanogaster.

Shirinian M, Popovic M, Grabbe C, Varshney G, Hugosson F, Bos H, Rehmann H, Palmer RH.

PLoS One. 2010 Mar 3;5(3):e9403. doi: 10.1371/journal.pone.0009403. Erratum in: PLoS One. 2010;5(3). doi: 10.1371/annotation/c3ebafa0-1531-4e9f-ab3a-660db7b8dcd2.

32.

Neuron specific Rab4 effector GRASP-1 coordinates membrane specialization and maturation of recycling endosomes.

Hoogenraad CC, Popa I, Futai K, Martinez-Sanchez E, Wulf PS, van Vlijmen T, Dortland BR, Oorschot V, Govers R, Monti M, Heck AJ, Sheng M, Klumperman J, Rehmann H, Jaarsma D, Kapitein LC, van der Sluijs P.

PLoS Biol. 2010 Jan 19;8(1):e1000283. doi: 10.1371/journal.pbio.1000283. Erratum in: PLoS Biol. 2010;8(9) doi:10.1371/annotation/b17dfb99-8809-4c5a-86c2-c2a0f7ca7f5e.. Sanchez-Martinez, Emma [corrected to Martinez-Sanchez, Emma].

33.

A Rap/phosphatidylinositol 3-kinase pathway controls pseudopod formation [corrected].

Kortholt A, Bolourani P, Rehmann H, Keizer-Gunnink I, Weeks G, Wittinghofer A, Van Haastert PJ.

Mol Biol Cell. 2010 Mar 15;21(6):936-45. doi: 10.1091/mbc.E09-03-0177. Epub 2010 Jan 20. Erratum in: Mol Biol Cell. 2010 Apr;21(7):1314.

34.

Phylogeny of the CDC25 homology domain reveals rapid differentiation of Ras pathways between early animals and fungi.

van Dam TJ, Rehmann H, Bos JL, Snel B.

Cell Signal. 2009 Nov;21(11):1579-85. doi: 10.1016/j.cellsig.2009.06.004. Epub 2009 Jun 28.

PMID:
19567266
35.

Epac activates the small G proteins Rap1 and Rab3A to achieve exocytosis.

Branham MT, Bustos MA, De Blas GA, Rehmann H, Zarelli VE, Treviño CL, Darszon A, Mayorga LS, Tomes CN.

J Biol Chem. 2009 Sep 11;284(37):24825-39. doi: 10.1074/jbc.M109.015362. Epub 2009 Jun 22.

36.

Dominant-negative ALK2 allele associates with congenital heart defects.

Smith KA, Joziasse IC, Chocron S, van Dinther M, Guryev V, Verhoeven MC, Rehmann H, van der Smagt JJ, Doevendans PA, Cuppen E, Mulder BJ, Ten Dijke P, Bakkers J.

Circulation. 2009 Jun 23;119(24):3062-9. doi: 10.1161/CIRCULATIONAHA.108.843714. Epub 2009 Jun 8.

PMID:
19506109
37.

Direct spatial control of Epac1 by cyclic AMP.

Ponsioen B, Gloerich M, Ritsma L, Rehmann H, Bos JL, Jalink K.

Mol Cell Biol. 2009 May;29(10):2521-31. doi: 10.1128/MCB.01630-08. Epub 2009 Mar 9.

38.

Biochemical characterisation of TCTP questions its function as a guanine nucleotide exchange factor for Rheb.

Rehmann H, Brüning M, Berghaus C, Schwarten M, Köhler K, Stocker H, Stoll R, Zwartkruis FJ, Wittinghofer A.

FEBS Lett. 2008 Sep 3;582(20):3005-10. doi: 10.1016/j.febslet.2008.07.057. Epub 2008 Aug 8.

39.

Structural insight into the recognition of the H3K4me3 mark by the TFIID subunit TAF3.

van Ingen H, van Schaik FM, Wienk H, Ballering J, Rehmann H, Dechesne AC, Kruijzer JA, Liskamp RM, Timmers HT, Boelens R.

Structure. 2008 Aug 6;16(8):1245-56. doi: 10.1016/j.str.2008.04.015.

40.

Structure of Epac2 in complex with a cyclic AMP analogue and RAP1B.

Rehmann H, Arias-Palomo E, Hadders MA, Schwede F, Llorca O, Bos JL.

Nature. 2008 Sep 4;455(7209):124-7. doi: 10.1038/nature07187. Epub 2008 Jul 27.

PMID:
18660803
41.

8-pCPT-2'-O-Me-cAMP-AM: an improved Epac-selective cAMP analogue.

Vliem MJ, Ponsioen B, Schwede F, Pannekoek WJ, Riedl J, Kooistra MR, Jalink K, Genieser HG, Bos JL, Rehmann H.

Chembiochem. 2008 Sep 1;9(13):2052-4. doi: 10.1002/cbic.200800216. No abstract available.

PMID:
18633951
42.

The RapGEF PDZ-GEF2 is required for maturation of cell-cell junctions.

Dubé N, Kooistra MR, Pannekoek WJ, Vliem MJ, Oorschot V, Klumperman J, Rehmann H, Bos JL.

Cell Signal. 2008 Sep;20(9):1608-15. doi: 10.1016/j.cellsig.2008.05.006. Epub 2008 May 23.

PMID:
18585005
43.

Cyclic nucleotide analogs as probes of signaling pathways.

Poppe H, Rybalkin SD, Rehmann H, Hinds TR, Tang XB, Christensen AE, Schwede F, Genieser HG, Bos JL, Doskeland SO, Beavo JA, Butt E.

Nat Methods. 2008 Apr;5(4):277-8. doi: 10.1038/nmeth0408-277. No abstract available.

PMID:
18376388
44.

Structural dynamics in the activation of Epac.

Harper SM, Wienk H, Wechselberger RW, Bos JL, Boelens R, Rehmann H.

J Biol Chem. 2008 Mar 7;283(10):6501-8. doi: 10.1074/jbc.M707849200. Epub 2007 Dec 31.

45.

GEFs and GAPs: critical elements in the control of small G proteins.

Bos JL, Rehmann H, Wittinghofer A.

Cell. 2007 Jun 1;129(5):865-77. Review. Erratum in: Cell. 2007 Jul 27;130(2):385.

46.

Cyclic AMP signalling in Dictyostelium: G-proteins activate separate Ras pathways using specific RasGEFs.

Kae H, Kortholt A, Rehmann H, Insall RH, Van Haastert PJ, Spiegelman GB, Weeks G.

EMBO Rep. 2007 May;8(5):477-82. Epub 2007 Mar 23.

47.

The PI3K effector Arap3 interacts with the PI(3,4,5)P3 phosphatase SHIP2 in a SAM domain-dependent manner.

Raaijmakers JH, Deneubourg L, Rehmann H, de Koning J, Zhang Z, Krugmann S, Erneux C, Bos JL.

Cell Signal. 2007 Jun;19(6):1249-57. Epub 2007 Jan 20.

PMID:
17314030
48.

Capturing cyclic nucleotides in action: snapshots from crystallographic studies.

Rehmann H, Wittinghofer A, Bos JL.

Nat Rev Mol Cell Biol. 2007 Jan;8(1):63-73. Review.

PMID:
17183361
49.

A novel cyclic AMP-dependent Epac-Rit signaling pathway contributes to PACAP38-mediated neuronal differentiation.

Shi GX, Rehmann H, Andres DA.

Mol Cell Biol. 2006 Dec;26(23):9136-47. Epub 2006 Sep 25.

50.

Characterization of the GbpD-activated Rap1 pathway regulating adhesion and cell polarity in Dictyostelium discoideum.

Kortholt A, Rehmann H, Kae H, Bosgraaf L, Keizer-Gunnink I, Weeks G, Wittinghofer A, Van Haastert PJ.

J Biol Chem. 2006 Aug 18;281(33):23367-76. Epub 2006 Jun 12.

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