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Items: 1 to 50 of 109

1.

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.

Molitor A, Prud'homme T, Miao Z, Conrad S, Bloch-Zupan A, Pichot A, Hanauer A, Isidor B, Bahram S, Carapito R.

J Hum Genet. 2019 Jul;64(7):689-694. doi: 10.1038/s10038-019-0615-3. Epub 2019 May 8.

PMID:
31068678
2.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S.

Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10.

3.

Selective alteration of adult hippocampal neurogenesis and impaired spatial pattern separation performance in the RSK2-deficient mouse model of Coffin-Lowry syndrome.

Castillon C, Lunion S, Desvignes N, Hanauer A, Laroche S, Poirier R.

Neurobiol Dis. 2018 Jul;115:69-81. doi: 10.1016/j.nbd.2018.04.007. Epub 2018 Apr 6.

PMID:
29627578
4.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S.

J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.

5.

PLD1 participates in BDNF-induced signalling in cortical neurons.

Ammar MR, Thahouly T, Hanauer A, Stegner D, Nieswandt B, Vitale N.

Sci Rep. 2015 Oct 6;5:14778. doi: 10.1038/srep14778.

6.

The PDK1-Rsk Signaling Pathway Controls Langerhans Cell Proliferation and Patterning.

Zaru R, Matthews SP, Edgar AJ, Prescott AR, Gomez-Nicola D, Hanauer A, Watts C.

J Immunol. 2015 Nov 1;195(9):4264-72. doi: 10.4049/jimmunol.1501520. Epub 2015 Sep 23.

7.
8.

Structural and functional basis for p38-MK2-activated Rsk signaling in toll-like receptor-stimulated dendritic cells.

Zaru R, Edgar AJ, Hanauer A, Watts C.

Mol Cell Biol. 2015 Jan;35(1):132-40. doi: 10.1128/MCB.00773-14. Epub 2014 Oct 20.

9.

RSK2 is a modulator of craniofacial development.

Laugel-Haushalter V, Paschaki M, Marangoni P, Pilgram C, Langer A, Kuntz T, Demassue J, Morkmued S, Choquet P, Constantinesco A, Bornert F, Schmittbuhl M, Pannetier S, Viriot L, Hanauer A, Dollé P, Bloch-Zupan A.

PLoS One. 2014 Jan 8;9(1):e84343. doi: 10.1371/journal.pone.0084343. eCollection 2014.

10.

The Coffin-Lowry syndrome-associated protein RSK2 regulates neurite outgrowth through phosphorylation of phospholipase D1 (PLD1) and synthesis of phosphatidic acid.

Ammar MR, Humeau Y, Hanauer A, Nieswandt B, Bader MF, Vitale N.

J Neurosci. 2013 Dec 11;33(50):19470-9. doi: 10.1523/JNEUROSCI.2283-13.2013.

11.

Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin-Lowry syndrome.

Morice E, Farley S, Poirier R, Dallerac G, Chagneau C, Pannetier S, Hanauer A, Davis S, Vaillend C, Laroche S.

Neurobiol Dis. 2013 Oct;58:156-68. doi: 10.1016/j.nbd.2013.05.016. Epub 2013 Jun 3.

PMID:
23742761
12.

RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.

Maystadt I, Destree A, Benoit V, Aeby A, Lederer D, Moortgat S, Jurkiewicz D, Krajewska-Walasek M, Hanauer A, Thomas GM.

Clin Genet. 2014 Jan;85(1):96-9. doi: 10.1111/cge.12122. Epub 2013 Mar 17. No abstract available.

PMID:
23495752
13.

Rsk2 Knockdown in PC12 Cells Results in Sp1 Dependent Increased Expression of the Gria2 Gene, Encoding the AMPA Receptor Subunit GluR2.

Mehmood T, Schneider A, Pannetier S, Hanauer A.

Int J Mol Sci. 2013 Feb 6;14(2):3358-75. doi: 10.3390/ijms14023358.

14.

Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome.

Schneider A, Maas SM, Hennekam RC, Hanauer A.

Eur J Med Genet. 2013 Mar;56(3):150-2. doi: 10.1016/j.ejmg.2012.11.007. Epub 2012 Dec 20.

PMID:
23261961
15.

Anchored p90 ribosomal S6 kinase 3 is required for cardiac myocyte hypertrophy.

Li J, Kritzer MD, Michel JJ, Le A, Thakur H, Gayanilo M, Passariello CL, Negro A, Danial JB, Oskouei B, Sanders M, Hare JM, Hanauer A, Dodge-Kafka K, Kapiloff MS.

Circ Res. 2013 Jan 4;112(1):128-39. doi: 10.1161/CIRCRESAHA.112.276162. Epub 2012 Sep 20.

16.

Stimulus-induced drop episodes in Coffin-Lowry syndrome.

Hahn JS, Hanauer A.

Eur J Med Genet. 2012 May;55(5):335-7. doi: 10.1016/j.ejmg.2012.03.004. Epub 2012 Mar 21. Review.

PMID:
22490425
17.

RSK2 signaling in medial habenula contributes to acute morphine analgesia.

Darcq E, Befort K, Koebel P, Pannetier S, Mahoney MK, Gaveriaux-Ruff C, Hanauer A, Kieffer BL.

Neuropsychopharmacology. 2012 Apr;37(5):1288-96. doi: 10.1038/npp.2011.316. Epub 2012 Jan 4.

18.

RSK2 signaling in brain habenula contributes to place aversion learning.

Darcq E, Koebel P, Del Boca C, Pannetier S, Kirstetter AS, Garnier JM, Hanauer A, Befort K, Kieffer BL.

Learn Mem. 2011 Aug 18;18(9):574-8. doi: 10.1101/lm.2221011. Print 2011 Sep.

19.

Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome.

Schneider A, Mehmood T, Pannetier S, Hanauer A.

J Neurochem. 2011 Nov;119(3):447-59. doi: 10.1111/j.1471-4159.2011.07423.x. Epub 2011 Sep 28.

20.

Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome.

Mehmood T, Schneider A, Sibille J, Marques Pereira P, Pannetier S, Ammar MR, Dembele D, Thibault-Carpentier C, Rouach N, Hanauer A.

Hum Genet. 2011 Mar;129(3):255-69. doi: 10.1007/s00439-010-0918-0. Epub 2010 Nov 30. Erratum in: Hum Genet. 2011 Mar;129(3):271. Sibillec, Jérémie [corrected to Sibille, Jérémie].

PMID:
21116650
21.

Coffin-Lowry syndrome.

Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A.

Eur J Hum Genet. 2010 Jun;18(6):627-33. doi: 10.1038/ejhg.2009.189. Epub 2009 Nov 4. Review.

22.

P90 Ribosomal s6 kinase 2 negatively regulates axon growth in motoneurons.

Fischer M, Pereira PM, Holtmann B, Simon CM, Hanauer A, Heisenberg M, Sendtner M.

Mol Cell Neurosci. 2009 Oct;42(2):134-41. doi: 10.1016/j.mcn.2009.06.006. Epub 2009 Jun 22.

PMID:
19555761
23.

Fibroblast growth factor receptor 3 associates with and tyrosine phosphorylates p90 RSK2, leading to RSK2 activation that mediates hematopoietic transformation.

Kang S, Elf S, Dong S, Hitosugi T, Lythgoe K, Guo A, Ruan H, Lonial S, Khoury HJ, Williams IR, Lee BH, Roesel JL, Karsenty G, Hanauer A, Taunton J, Boggon TJ, Gu TL, Chen J.

Mol Cell Biol. 2009 Apr;29(8):2105-17. doi: 10.1128/MCB.00998-08. Epub 2009 Feb 17.

24.

Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome.

Marques Pereira P, Gruss M, Braun K, Foos N, Pannetier S, Hanauer A.

J Neurochem. 2008 Dec;107(5):1325-34. doi: 10.1111/j.1471-4159.2008.05703.x. Epub 2008 Sep 24.

25.

The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1.

Zeniou-Meyer M, Liu Y, Béglé A, Olanich ME, Hanauer A, Becherer U, Rettig J, Bader MF, Vitale N.

Proc Natl Acad Sci U S A. 2008 Jun 17;105(24):8434-9. doi: 10.1073/pnas.0710676105. Epub 2008 Jun 11. Erratum in: Proc Natl Acad Sci U S A. 2009 May 19;106(20):8398. Olanish, Mary [corrected to Olanich, Mary E].

26.

Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation.

Dubos A, Pannetier S, Hanauer A.

Am J Med Genet A. 2008 May 15;146A(10):1267-79. doi: 10.1002/ajmg.a.32274.

PMID:
18412109
27.

Electrocautery versus 23% NaOH infiltration to induce subglottic stenosis in a canine experimental model.

Hanauer AD, Fraga JC, Sousa JK, Sanches PR, Duarte ME, Ulbrich-Kulczynski J, Filho OH, Saueressig MG.

Pediatr Surg Int. 2007 Dec;23(12):1227-31. Epub 2007 Sep 26.

PMID:
17899131
28.

The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.

Marques Pereira P, Heron D, Hanauer A.

Hum Genet. 2007 Dec;122(5):541-3. Epub 2007 Aug 24.

PMID:
17717706
29.

Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior.

Poirier R, Jacquot S, Vaillend C, Soutthiphong AA, Libbey M, Davis S, Laroche S, Hanauer A, Welzl H, Lipp HP, Wolfer DP.

Behav Genet. 2007 Jan;37(1):31-50. Epub 2006 Oct 11.

PMID:
17033934
30.

Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A.

Clin Genet. 2006 Aug;70(2):161-6.

PMID:
16879200
31.

Genetic background of HSH in three Polish families and a patient with an X;9 translocation.

Jalkanen R, Pronicka E, Tyynismaa H, Hanauer A, Walder R, Alitalo T.

Eur J Hum Genet. 2006 Jan;14(1):55-62.

32.

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gécz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A.

Hum Genet. 2006 Jan;118(5):578-90. Epub 2005 Oct 26.

PMID:
16249884
33.

p90Rsk is not involved in cytostatic factor arrest in mouse oocytes.

Dumont J, Umbhauer M, Rassinier P, Hanauer A, Verlhac MH.

J Cell Biol. 2005 Apr 25;169(2):227-31. Epub 2005 Apr 18.

34.

ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome.

Yang X, Matsuda K, Bialek P, Jacquot S, Masuoka HC, Schinke T, Li L, Brancorsini S, Sassone-Corsi P, Townes TM, Hanauer A, Karsenty G.

Cell. 2004 Apr 30;117(3):387-98.

35.

Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.

Zeniou M, Gattoni R, Hanauer A, Stévenin J.

Nucleic Acids Res. 2004 Feb 18;32(3):1214-23. Print 2004.

36.

Expression of the RSK2 gene during early human development.

Guimiot F, Delezoide AL, Hanauer A, Simonneau M.

Gene Expr Patterns. 2004 Jan;4(1):111-4.

PMID:
14678837
38.

Coffin-Lowry syndrome: clinical and molecular features.

Hanauer A, Young ID.

J Med Genet. 2002 Oct;39(10):705-13. Review.

39.

A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.

Touraine RL, Zeniou M, Hanauer A.

Eur J Pediatr. 2002 Apr;161(4):179-87. Review.

PMID:
12014383
40.

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Zeniou M, Pannetier S, Fryns JP, Hanauer A.

Am J Hum Genet. 2002 Jun;70(6):1421-33. Epub 2002 Apr 25.

41.
42.

The ribosomal S6 kinases, cAMP-responsive element-binding, and STAT3 proteins are regulated by different leukemia inhibitory factor signaling pathways in mouse embryonic stem cells.

Boeuf H, Merienne K, Jacquot S, Duval D, Zeniou M, Hauss C, Reinhardt B, Huss-Garcia Y, Dierich A, Frank DA, Hanauer A, Kedinger C.

J Biol Chem. 2001 Dec 7;276(49):46204-11. Epub 2001 Oct 1.

43.

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A.

Hum Mutat. 2001 Feb;17(2):103-16.

PMID:
11180593
44.

9th international workshop on fragile X syndrome and X-linked mental retardation.

Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, Partington M, Ramakers GJ, Ropers HH, Rousseau F, Schwartz C, Steinbach P, Stoll C, Tranebjaerg L, Turner G, Van Bokhoven H, Vianna-Morgante A.

Am J Med Genet. 2000 Oct 23;94(5):345-60. No abstract available.

PMID:
11050616
45.

Activation of RSK by UV-light: phosphorylation dynamics and involvement of the MAPK pathway.

Mérienne K, Jacquot S, Zeniou M, Pannetier S, Sassone-Corsi P, Hanauer A.

Oncogene. 2000 Aug 31;19(37):4221-9.

46.

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.

Manouvrier-Hanu S, Amiel J, Jacquot S, Merienne K, Moerman A, Coëslier A, Labarriere F, Vallée L, Croquette MF, Hanauer A.

J Med Genet. 1999 Oct;36(10):775-8.

47.

Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.

Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier JM, Rowe P, Francis F, Julienne A, Hanauer A, Econs MJ, Oudet C.

Eur J Hum Genet. 1999 Jul;7(5):615-9.

48.

Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3.

Sassone-Corsi P, Mizzen CA, Cheung P, Crosio C, Monaco L, Jacquot S, Hanauer A, Allis CD.

Science. 1999 Aug 6;285(5429):886-91.

49.

Coffin-Lowry syndrome: current status.

Jacquot S, Merienne K, Trivier E, Zeniou M, Pannetier S, Hanauer A.

Am J Med Genet. 1999 Jul 30;85(3):214-5. No abstract available.

PMID:
10398230
50.

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.

Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A.

Nat Genet. 1999 May;22(1):13-4. No abstract available.

PMID:
10319851

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