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SOD1 is essential for oncogene-driven mammary tumor formation but dispensable for normal development and proliferation.

Gomez ML, Shah N, Kenny TC, Jenkins EC Jr, Germain D.

Oncogene. 2019 Jul;38(29):5751-5765. doi: 10.1038/s41388-019-0839-x. Epub 2019 Jun 20.


Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.

Oliveira JP, Nowak A, Barbey F, Torres M, Nunes JP, Teixeira-E-Costa F, Carvalho F, Sampaio S, Tavares I, Pereira O, Soares AL, Carmona C, Cardoso MT, Jurca-Simina IE, Spada M, Ferreira S, Germain DP.

Eur J Med Genet. 2019 Jun 11:103703. doi: 10.1016/j.ejmg.2019.103703. [Epub ahead of print]


Why systematic literature reviews in Fabry disease should include all published evidence.

Elliott PM, Germain DP, Hilz MJ, Spada M, Wanner C, Falissard B.

Eur J Med Genet. 2019 Jun 10:103702. doi: 10.1016/j.ejmg.2019.103702. [Epub ahead of print] Review.


Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational study.

Papaxanthos-Roche A, Maillard A, Chansel-Debordeaux L, Albert M, Patrat C, Lidove O, Germain DP, Perez P, Lacombe D.

Basic Clin Androl. 2019 May 15;29:7. doi: 10.1186/s12610-019-0088-4. eCollection 2019.


Mitohormesis Primes Tumor Invasion and Metastasis.

Kenny TC, Craig AJ, Villanueva A, Germain D.

Cell Rep. 2019 May 21;27(8):2292-2303.e6. doi: 10.1016/j.celrep.2019.04.095.


Trabecular architecture in the humeral metaphyses of non-avian reptiles (Crocodylia, Squamata and Testudines): Lifestyle, allometry and phylogeny.

Plasse M, Amson E, Bardin J, Grimal Q, Germain D.

J Morphol. 2019 Jul;280(7):982-998. doi: 10.1002/jmor.20996. Epub 2019 May 15.


Parity predisposes breasts to the oncogenic action of PAPP-A and activation of the collagen receptor DDR2.

Slocum E, Craig A, Villanueva A, Germain D.

Breast Cancer Res. 2019 May 2;21(1):56. doi: 10.1186/s13058-019-1142-z.


Cross talk between SOD1 and the mitochondrial UPR in cancer and neurodegeneration.

Gomez M, Germain D.

Mol Cell Neurosci. 2019 Jul;98:12-18. doi: 10.1016/j.mcn.2019.04.003. Epub 2019 Apr 24. Review.


Dynamic repression by BCL6 controls the genome-wide liver response to fasting and steatosis.

Sommars MA, Ramachandran K, Senagolage MD, Futtner CR, Germain DM, Allred AL, Omura Y, Bederman IR, Barish GD.

Elife. 2019 Apr 15;8. pii: e43922. doi: 10.7554/eLife.43922.


Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D.

Clin Genet. 2019 Aug;96(2):107-117. doi: 10.1111/cge.13546. Epub 2019 Jun 6.


Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.

Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, Frank M, Germain DP, Hulmes DJS, Jacquemont ML, Kannu P, Lefroy H, Legrand A, Pope FM, Robertson L, Vandersteen A, von Klemperer K, Warburton R, Whiteford M, van Dijk FS.

Genet Med. 2019 Mar 6. doi: 10.1038/s41436-019-0470-9. [Epub ahead of print]


Fabry disease in cardiology practice: Literature review and expert point of view.

Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP.

Arch Cardiovasc Dis. 2019 Apr;112(4):278-287. doi: 10.1016/j.acvd.2019.01.002. Epub 2019 Feb 28. Review.


The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.

Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar M, Nowak A, Oliveira JP, Pieroni M, Viana-Baptista M, Wanner C, Spada M.

Mol Genet Metab Rep. 2019 Feb 6;19:100454. doi: 10.1016/j.ymgmr.2019.100454. eCollection 2019 Jun. Review.


Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Germain DP, Nicholls K, Giugliani R, Bichet DG, Hughes DA, Barisoni LM, Colvin RB, Jennette JC, Skuban N, Castelli JP, Benjamin E, Barth JA, Viereck C.

Genet Med. 2019 Feb 6. doi: 10.1038/s41436-019-0451-z. [Epub ahead of print]


Recycling of crushed waste rock as backfilling material in coal mine: effects of particle size on compaction behaviours.

Li M, Zhang J, Song W, Germain DM.

Environ Sci Pollut Res Int. 2019 Mar;26(9):8789-8797. doi: 10.1007/s11356-019-04379-9. Epub 2019 Feb 2.


The individual's signature of telomere length distribution.

Toupance S, Villemonais D, Germain D, Gegout-Petit A, Albuisson E, Benetos A.

Sci Rep. 2019 Jan 24;9(1):685. doi: 10.1038/s41598-018-36756-8.


Autophagy is a gatekeeper of hepatic differentiation and carcinogenesis by controlling the degradation of Yap.

Lee YA, Noon LA, Akat KM, Ybanez MD, Lee TF, Berres ML, Fujiwara N, Goossens N, Chou HI, Parvin-Nejad FP, Khambu B, Kramer EGM, Gordon R, Pfleger C, Germain D, John GR, Campbell KN, Yue Z, Yin XM, Cuervo AM, Czaja MJ, Fiel MI, Hoshida Y, Friedman SL.

Nat Commun. 2018 Nov 23;9(1):4962. doi: 10.1038/s41467-018-07338-z.


The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.

Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C, Weidemann F, Spada M.

Mol Genet Metab. 2019 Mar;126(3):224-235. doi: 10.1016/j.ymgme.2018.09.007. Epub 2018 Sep 27. Review.


Staff Perception of Interprofessional Simulation for Verbal De-escalation and Restraint Application to Mitigate Violent Patient Behaviors in the Emergency Department.

Krull W, Gusenius TM, Germain D, Schnepper L.

J Emerg Nurs. 2019 Jan;45(1):24-30. doi: 10.1016/j.jen.2018.07.001. Epub 2018 Aug 17.


European expert consensus statement on therapeutic goals in Fabry disease.

Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ.

Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Review.


The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.

Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tøndel C, Tylki-Szymańska A, Wanner C, Germain DP.

Mol Genet Metab. 2019 Mar;126(3):212-223. doi: 10.1016/j.ymgme.2018.04.007. Epub 2018 Apr 26. Review.


Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy.

Wanner C, Germain DP, Hilz MJ, Spada M, Falissard B, Elliott PM.

Mol Genet Metab. 2019 Mar;126(3):210-211. doi: 10.1016/j.ymgme.2018.04.004. Epub 2018 Apr 11. No abstract available.


Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A.

Mol Genet Genomic Med. 2018 Apr 12. doi: 10.1002/mgg3.389. [Epub ahead of print]


Fabry disease revisited: Management and treatment recommendations for adult patients.

Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR.

Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review.


AP-2ε Expression in Developing Retina: Contributing to the Molecular Diversity of Amacrine Cells.

Jain S, Glubrecht DD, Germain DR, Moser M, Godbout R.

Sci Rep. 2018 Feb 21;8(1):3386. doi: 10.1038/s41598-018-21822-y.


The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

Mortreux J, Busa T, Germain DP, Nadeau G, Puechberty J, Coubes C, Gatinois V, Cacciagli P, Duffourd Y, Pinard JM, Tevissen H, Villard L, Sanlaville D, Philip N, Missirian C.

Eur J Hum Genet. 2018 Jan;26(1):143-148. doi: 10.1038/s41431-017-0018-x. Epub 2017 Nov 29.


[Ehlers-Danlos syndromes].

Germain DP.

Ann Dermatol Venereol. 2017 Dec;144(12):744-758. doi: 10.1016/j.annder.2017.06.017. Epub 2017 Oct 9. French.


From discovery of the CHOP axis and targeting ClpP to the identification of additional axes of the UPRmt driven by the estrogen receptor and SIRT3.

Kenny TC, Germain D.

J Bioenerg Biomembr. 2017 Aug;49(4):297-305. doi: 10.1007/s10863-017-9722-z. Epub 2017 Aug 10. Review.


The Mitochondrial Unfolded Protein Response as a Non-Oncogene Addiction to Support Adaptation to Stress during Transformation in Cancer and Beyond.

Kenny TC, Manfredi G, Germain D.

Front Oncol. 2017 Jul 26;7:159. doi: 10.3389/fonc.2017.00159. eCollection 2017. Review.


LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D.

PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017.


Randomized phase II trial of fulvestrant alone or in combination with bortezomib in hormone receptor-positive metastatic breast cancer resistant to aromatase inhibitors: a New York Cancer Consortium trial.

Adelson K, Ramaswamy B, Sparano JA, Christos PJ, Wright JJ, Raptis G, Han G, Villalona-Calero M, Ma CX, Hershman D, Baar J, Klein P, Cigler T, Budd GT, Novik Y, Tan AR, Tannenbaum S, Goel A, Levine E, Shapiro CL, Andreopoulou E, Naughton M, Kalinsky K, Waxman S, Germain D.

NPJ Breast Cancer. 2016 Dec 14;2:16037. doi: 10.1038/npjbcancer.2016.37. eCollection 2016.


Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.

Thurberg BL, Germain DP, Perretta F, Jurca-Simina IE, Politei JM.

Mol Genet Metab Rep. 2016 Oct 1;11:75-80. doi: 10.1016/j.ymgmr.2016.09.005. eCollection 2017 Jun.


Patient-derived Interstitial Fluids and Predisposition to Aggressive Sporadic Breast Cancer through Collagen Remodeling and Inactivation of p53.

Kenny TC, Schmidt H, Adelson K, Hoshida Y, Koh AP, Shah N, Mandeli J, Ting J, Germain D.

Clin Cancer Res. 2017 Sep 15;23(18):5446-5459. doi: 10.1158/1078-0432.CCR-17-0342. Epub 2017 Jun 19.


Correction for Papa and Germain, "SirT3 Regulates a Novel Arm of the Mitochondrial Unfolded Protein Response".

Papa L, Germain D.

Mol Cell Biol. 2017 Jun 15;37(13). pii: e00191-17. doi: 10.1128/MCB.00191-17. Print 2017 Jul 1. No abstract available.


Role for RIF1-interacting partner DDX1 in BLM recruitment to DNA double-strand breaks.

Li L, Poon HY, Hildebrandt MR, Monckton EA, Germain DR, Fahlman RP, Godbout R.

DNA Repair (Amst). 2017 Jul;55:47-63. doi: 10.1016/j.dnarep.2017.05.001. Epub 2017 May 13.


Toward the identification and the targeting of key players of the mitochondrial unfolded protein response (UPRmt) in cancer.

Germain D.

J Bioenerg Biomembr. 2017 May 20. doi: 10.1007/s10863-017-9715-y. [Epub ahead of print] No abstract available.


Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

Wilcox WR, Feldt-Rasmussen U, Martins AM, Ortiz A, Lemay RM, Jovanovic A, Germain DP, Varas C, Nicholls K, Weidemann F, Hopkin RJ.

JIMD Rep. 2018;38:45-51. doi: 10.1007/8904_2017_28. Epub 2017 May 17.


Pseudoxanthoma elasticum.

Germain DP.

Orphanet J Rare Dis. 2017 May 10;12(1):85. doi: 10.1186/s13023-017-0639-8. Review.


mtDNA, Metastasis, and the Mitochondrial Unfolded Protein Response (UPRmt).

Kenny TC, Germain D.

Front Cell Dev Biol. 2017 Apr 19;5:37. doi: 10.3389/fcell.2017.00037. eCollection 2017. Review.


Fifty-year spatiotemporal analysis of landscape changes in the Mont Saint-Hilaire UNESCO Biosphere Reserve (Quebec, Canada).

Béliveau M, Germain D, Ianăş AN.

Environ Monit Assess. 2017 May;189(5):215. doi: 10.1007/s10661-017-5938-y. Epub 2017 Apr 14.


Selected mitochondrial DNA landscapes activate the SIRT3 axis of the UPRmt to promote metastasis.

Kenny TC, Hart P, Ragazzi M, Sersinghe M, Chipuk J, Sagar MAK, Eliceiri KW, LaFramboise T, Grandhi S, Santos J, Riar AK, Papa L, D'Aurello M, Manfredi G, Bonini MG, Germain D.

Oncogene. 2017 Aug;36(31):4393-4404. doi: 10.1038/onc.2017.52. Epub 2017 Apr 3.


Clinical utility gene card for: Fabry disease - update 2016.

Gal A, Beck M, Höppner W, Germain DP.

Eur J Hum Genet. 2017 Jun;25(7):e1-e3. doi: 10.1038/ejhg.2017.17. Epub 2017 Mar 22. No abstract available.


Sex specific activation of the ERα axis of the mitochondrial UPR (UPRmt) in the G93A-SOD1 mouse model of familial ALS.

Riar AK, Burstein SR, Palomo GM, Arreguin A, Manfredi G, Germain D.

Hum Mol Genet. 2017 Apr 1;26(7):1318-1327. doi: 10.1093/hmg/ddx049.


Basilar Artery Changes in Fabry Disease.

Manara R, Carlier RY, Righetto S, Citton V, Locatelli G, Colas F, Ermani M, Germain DP, Burlina A.

AJNR Am J Neuroradiol. 2017 Mar;38(3):531-536. doi: 10.3174/ajnr.A5069. Epub 2017 Jan 26.


Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Legrand A, Cornez L, Samkari W, Mazzella JM, Venisse A, Boccio V, Auribault K, Keren B, Benistan K, Germain DP, Frank M, Jeunemaitre X, Albuisson J.

Genet Med. 2017 Aug;19(8):909-917. doi: 10.1038/gim.2016.213. Epub 2017 Jan 19.


Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.

J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. Erratum in: J Med Genet. 2018 Apr 16;:.


An acetyltransferase-independent function of Eso1 regulates centromere cohesion.

Lin SJ, Tapia-Alveal C, Jabado OJ, Germain D, O'Connell MJ.

Mol Biol Cell. 2016 Dec 15;27(25):4002-4010. Epub 2016 Oct 19.


DEAD Box 1 Facilitates Removal of RNA and Homologous Recombination at DNA Double-Strand Breaks.

Li L, Germain DR, Poon HY, Hildebrandt MR, Monckton EA, McDonald D, Hendzel MJ, Godbout R.

Mol Cell Biol. 2016 Oct 28;36(22):2794-2810. doi: 10.1128/MCB.00415-16. Print 2016 Nov 15.


The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ.

Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22.


Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R.

N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.

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