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Items: 1 to 20 of 103

1.

Primary cilia defects causing mitral valve prolapse.

Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA.

Sci Transl Med. 2019 May 22;11(493). pii: eaax0290. doi: 10.1126/scitranslmed.aax0290.

PMID:
31118289
2.

Genome-Wide Association Study-Driven Gene-Set Analyses, Genetic, and Functional Follow-Up Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse.

Yu M, Georges A, Tucker NR, Kyryachenko S, Toomer K, Schott JJ, Delling FN, Fernandez-Friera L, Solis J, Ellinor PT, Levine RA, Slaugenhaupt SA, Hagège AA, Dina C, Jeunemaitre X, Milan DJ, Norris RA, Bouatia-Naji N.

Circ Genom Precis Med. 2019 May;12(5):e002497. doi: 10.1161/CIRCGEN.119.002497.

PMID:
31112420
3.

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.

Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA.

Am J Hum Genet. 2019 Apr 4;104(4):638-650. doi: 10.1016/j.ajhg.2019.02.009. Epub 2019 Mar 21.

PMID:
30905397
4.

Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.

Salani M, Urbina F, Brenner A, Morini E, Shetty R, Gallagher CS, Law EA, Sunshine S, Finneran DJ, Johnson G, Minor L, Slaugenhaupt SA.

SLAS Discov. 2019 Jan;24(1):57-67. doi: 10.1177/2472555218792264. Epub 2018 Aug 7.

PMID:
30085848
5.

Fingolimod Phosphate Inhibits Astrocyte Inflammatory Activity in Mucolipidosis IV.

Weinstock L, Furness AM, Herron S, Smith SS, Sankar S, DeRosa SG, Gao D, Mepyans ME, Scotto Rosato A, Medina DL, Vardi A, Ferreira NS, Cho SM, Futerman AH, Slaugenhaupt SA, Wood LB, Grishchuk Y.

Hum Mol Genet. 2018 May 16. doi: 10.1093/hmg/ddy182. [Epub ahead of print]

PMID:
29771310
6.

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F.

Hum Mol Genet. 2018 Jul 15;27(14):2466-2476. doi: 10.1093/hmg/ddy151.

7.

Robust lysosomal calcium signaling through channel TRPML1 is impaired by lysosomal lipid accumulation.

Gómez NM, Lu W, Lim JC, Kiselyov K, Campagno KE, Grishchuk Y, Slaugenhaupt SA, Pfeffer BA, Fliesler SJ, Mitchell CH.

FASEB J. 2018 Feb;32(2):782-794. doi: 10.1096/fj.201700220RR. Epub 2018 Jan 4.

8.

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.

Le Tourneau T, Le Scouarnec S, Cueff C, Bernstein D, Aalberts JJJ, Lecointe S, Mérot J, Bernstein JA, Oomen T, Dina C, Karakachoff M, Desal H, Al Habash O, Delling FN, Capoulade R, Suurmeijer AJH, Milan D, Norris RA, Markwald R, Aikawa E, Slaugenhaupt SA, Jeunemaitre X, Hagège A, Roussel JC, Trochu JN, Levine RA, Kyndt F, Probst V, Le Marec H, Schott JJ.

Eur Heart J. 2018 Apr 14;39(15):1269-1277. doi: 10.1093/eurheartj/ehx505.

9.

Small Molecules for Early Endosome-Specific Patch Clamping.

Chen CC, Butz ES, Chao YK, Grishchuk Y, Becker L, Heller S, Slaugenhaupt SA, Biel M, Wahl-Schott C, Grimm C.

Cell Chem Biol. 2017 Jul 20;24(7):907-916.e4. doi: 10.1016/j.chembiol.2017.05.025.

10.

Familial dysautonomia: History, genotype, phenotype and translational research.

Norcliffe-Kaufmann L, Slaugenhaupt SA, Kaufmann H.

Prog Neurobiol. 2017 May;152:131-148. doi: 10.1016/j.pneurobio.2016.06.003. Epub 2016 Jun 15. Review.

PMID:
27317387
11.

Implementation of Electronic Consent at a Biobank: An Opportunity for Precision Medicine Research.

Boutin NT, Mathieu K, Hoffnagle AG, Allen NL, Castro VM, Morash M, O'Rourke PP, Hohmann EL, Herring N, Bry L, Slaugenhaupt SA, Karlson EW, Weiss ST, Smoller JW.

J Pers Med. 2016 Jun 9;6(2). pii: E17. doi: 10.3390/jpm6020017.

12.

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.

Morini E, Dietrich P, Salani M, Downs HM, Wojtkiewicz GR, Alli S, Brenner A, Nilbratt M, LeClair JW, Oaklander AL, Slaugenhaupt SA, Dragatsis I.

Hum Mol Genet. 2016 Mar 15;25(6):1116-28. doi: 10.1093/hmg/ddv634. Epub 2016 Jan 13.

13.

Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.

Grishchuk Y, Stember KG, Matsunaga A, Olivares AM, Cruz NM, King VE, Humphrey DM, Wang SL, Muzikansky A, Betensky RA, Thoreson WB, Haider N, Slaugenhaupt SA.

Am J Pathol. 2016 Jan;186(1):199-209. doi: 10.1016/j.ajpath.2015.09.017. Epub 2015 Nov 20.

14.

Mitral valve disease--morphology and mechanisms.

Levine RA, Hagége AA, Judge DP, Padala M, Dal-Bianco JP, Aikawa E, Beaudoin J, Bischoff J, Bouatia-Naji N, Bruneval P, Butcher JT, Carpentier A, Chaput M, Chester AH, Clusel C, Delling FN, Dietz HC, Dina C, Durst R, Fernandez-Friera L, Handschumacher MD, Jensen MO, Jeunemaitre XP, Le Marec H, Le Tourneau T, Markwald RR, Mérot J, Messas E, Milan DP, Neri T, Norris RA, Peal D, Perrocheau M, Probst V, Pucéat M, Rosenthal N, Solis J, Schott JJ, Schwammenthal E, Slaugenhaupt SA, Song JK, Yacoub MH; Leducq Mitral Transatlantic Network.

Nat Rev Cardiol. 2015 Dec;12(12):689-710. doi: 10.1038/nrcardio.2015.161. Epub 2015 Oct 20. Review.

15.

Response to Letter Regarding Article, "Familial Clustering of Mitral Valve Prolapse in the Community".

Delling FN, Rong J, Larson MG, Lehman B, Osypiuk E, Stantchev P, Slaugenhaupt SA, Benjamin EJ, Levine RA, Vasan RS.

Circulation. 2015 Oct 6;132(14):e187-8. doi: 10.1161/CIRCULATIONAHA.115.016788. No abstract available.

16.

Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV.

Grishchuk Y, Peña KA, Coblentz J, King VE, Humphrey DM, Wang SL, Kiselyov KI, Slaugenhaupt SA.

Dis Model Mech. 2015 Dec;8(12):1591-601. doi: 10.1242/dmm.021154. Epub 2015 Sep 17.

17.

Genetic association analyses highlight biological pathways underlying mitral valve prolapse.

Dina C, Bouatia-Naji N, Tucker N, Delling FN, Toomer K, Durst R, Perrocheau M, Fernandez-Friera L, Solis J; PROMESA investigators, Le Tourneau T, Chen MH, Probst V, Bosse Y, Pibarot P, Zelenika D, Lathrop M, Hercberg S, Roussel R, Benjamin EJ, Bonnet F, Lo SH, Dolmatova E, Simonet F, Lecointe S, Kyndt F, Redon R, Le Marec H, Froguel P, Ellinor PT, Vasan RS, Bruneval P, Markwald RR, Norris RA, Milan DJ, Slaugenhaupt SA, Levine RA, Schott JJ, Hagege AA; MVP-France, Jeunemaitre X; Leducq Transatlantic MITRAL Network.

Nat Genet. 2015 Oct;47(10):1206-11. doi: 10.1038/ng.3383. Epub 2015 Aug 24.

18.

Mutations in DCHS1 cause mitral valve prolapse.

Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA.

Nature. 2015 Sep 3;525(7567):109-13. doi: 10.1038/nature14670. Epub 2015 Aug 10.

19.

Familial clustering of mitral valve prolapse in the community.

Delling FN, Rong J, Larson MG, Lehman B, Osypiuk E, Stantchev P, Slaugenhaupt SA, Benjamin EJ, Levine RA, Vasan RS.

Circulation. 2015 Jan 20;131(3):263-8. doi: 10.1161/CIRCULATIONAHA.114.012594. Epub 2014 Oct 31.

20.

Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV.

Grishchuk Y, Sri S, Rudinskiy N, Ma W, Stember KG, Cottle MW, Sapp E, Difiglia M, Muzikansky A, Betensky RA, Wong AM, Bacskai BJ, Hyman BT, Kelleher RJ 3rd, Cooper JD, Slaugenhaupt SA.

Acta Neuropathol Commun. 2014 Sep 9;2:133. doi: 10.1186/s40478-014-0133-7.

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