Falardeau J - Search Results

1

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.

Cerrato F, Shagoury J, Kralickova M, Dwyer A, Falardeau J, Ozata M, Van Vliet G, Bouloux P, Hall JE, Hayes FJ, Pitteloud N, Martin KA, Welt C, Seminara SB. Cerrato F, et al. Among authors: falardeau j. Eur J Endocrinol. 2006 Nov;155 Suppl 1:S3-S10. doi: 10.1530/eje.1.02235. Eur J Endocrinol. 2006. PMID: 17074994

2

Reversal of idiopathic hypogonadotropic hypogonadism.

Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF Jr, Pitteloud N. Raivio T, et al. Among authors: falardeau j. N Engl J Med. 2007 Aug 30;357(9):863-73. doi: 10.1056/NEJMoa066494. N Engl J Med. 2007. PMID: 17761590 Free article.

3

Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation.

Pitteloud N, Thambundit A, Dwyer AA, Falardeau JL, Plummer L, Caronia LM, Hayes FJ, Lee H, Boepple PA, Crowley WF Jr. Pitteloud N, et al. Among authors: falardeau jl. Neuroendocrinology. 2009;90(3):260-8. doi: 10.1159/000245383. Epub 2009 Oct 15. Neuroendocrinology. 2009. PMID: 19829004 Free PMC article.

4

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.

Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N. Falardeau J, et al. J Clin Invest. 2008 Aug;118(8):2822-31. doi: 10.1172/JCI34538. J Clin Invest. 2008. PMID: 18596921 Free PMC article.

5

Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans.

Falardeau JL, Kennedy JC, Acierno JS Jr, Sun M, Stahl S, Goldin E, Slaugenhaupt SA. Falardeau JL, et al. BMC Genomics. 2002;3:3. doi: 10.1186/1471-2164-3-3. Epub 2002 Feb 5. BMC Genomics. 2002. PMID: 11897010 Free PMC article.

6

A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.

Acierno JS Jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA. Acierno JS Jr, et al. Among authors: falardeau jl. Genomics. 2001 Apr 15;73(2):203-10. doi: 10.1006/geno.2001.6526. Genomics. 2001. PMID: 11318610

7

Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway.

LaPlante JM, Falardeau J, Sun M, Kanazirska M, Brown EM, Slaugenhaupt SA, Vassilev PM. LaPlante JM, et al. Among authors: falardeau j. FEBS Lett. 2002 Dec 4;532(1-2):183-7. doi: 10.1016/s0014-5793(02)03670-0. FEBS Lett. 2002. PMID: 12459486 Free article.

8

Lysosomal exocytosis is impaired in mucolipidosis type IV.

LaPlante JM, Sun M, Falardeau J, Dai D, Brown EM, Slaugenhaupt SA, Vassilev PM. LaPlante JM, et al. Among authors: falardeau j. Mol Genet Metab. 2006 Dec;89(4):339-48. doi: 10.1016/j.ymgme.2006.05.016. Epub 2006 Aug 17. Mol Genet Metab. 2006. PMID: 16914343

9

The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.

LaPlante JM, Falardeau JL, Brown EM, Slaugenhaupt SA, Vassilev PM. LaPlante JM, et al. Exp Cell Res. 2011 Apr 1;317(6):691-705. doi: 10.1016/j.yexcr.2011.01.008. Epub 2011 Jan 20. Exp Cell Res. 2011. PMID: 21256127 Free PMC article.

10

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. Sun M, et al. Among authors: falardeau jl. Hum Mol Genet. 2000 Oct 12;9(17):2471-8. doi: 10.1093/hmg/9.17.2471. Hum Mol Genet. 2000. PMID: 11030752

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