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Normal gonadotropin production and fertility in gonadotrope-specific BMPR1A knockout mice.

Zhou X, Wang Y, Ongaro L, Boehm U, Kaartinen V, Mishina Y, Bernard DJ.

J Endocrinol. 2016 Mar 30. pii: JOE-16-0053. [Epub ahead of print]


IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.

Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W; IGSF1 Clinical Care Group.

J Clin Endocrinol Metab. 2016 Apr;101(4):1627-36. doi: 10.1210/jc.2015-3880. Epub 2016 Feb 3.


Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.

Hulle SV, Craen M, Callewaert B, Joustra S, Oostdijk W, Losekoot M, Wit JM, Turgeon MO, Bernard DJ, Schepper JD.

J Clin Res Pediatr Endocrinol. 2016 Mar 5;8(1):86-91. doi: 10.4274/jcrpe.2512. Epub 2015 Dec 18.


Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome.

Joustra SD, Roelfsema F, Endert E, Ballieux BE, van Trotsenburg AS, Fliers E, Corssmit EP, Bernard DJ, Oostdijk W, Wit JM, Pereira AM, Biermasz NR.

Neuroendocrinology. 2015 Aug 25. [Epub ahead of print]


Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat.

Joustra SD, Meijer OC, Heinen CA, Mol IM, Laghmani el H, Sengers RM, Carreno G, van Trotsenburg AS, Biermasz NR, Bernard DJ, Wit JM, Oostdijk W, van Pelt AM, Hamer G, Wagenaar GT.

J Endocrinol. 2015 Sep;226(3):181-91. doi: 10.1530/JOE-15-0204. Epub 2015 Jul 10.


Minireview: Activin Signaling in Gonadotropes: What Does the FOX say… to the SMAD?

Fortin J, Ongaro L, Li Y, Tran S, Lamba P, Wang Y, Zhou X, Bernard DJ.

Mol Endocrinol. 2015 Jul;29(7):963-77. doi: 10.1210/me.2015-1004. Epub 2015 May 5. Review.


Is IGSF1 involved in human pituitary tumor formation?

Faucz FR, Horvath AD, Azevedo MF, Levy I, Bak B, Wang Y, Xekouki P, Szarek E, Gourgari E, Manning AD, de Alexandre RB, Saloustros E, Trivellin G, Lodish M, Hofman P, Anderson YC, Holdaway I, Oldfield E, Chittiboina P, Nesterova M, Biermasz NR, Wit JM, Bernard DJ, Stratakis CA.

Endocr Relat Cancer. 2015 Feb;22(1):47-54. doi: 10.1530/ERC-14-0465. Epub 2014 Dec 19.


IGSF1 variants in boys with familial delayed puberty.

Joustra SD, Wehkalampi K, Oostdijk W, Biermasz NR, Howard S, Silander TL, Bernard DJ, Wit JM, Dunkel L, Losekoot M.

Eur J Pediatr. 2015 May;174(5):687-92. doi: 10.1007/s00431-014-2445-9. Epub 2014 Oct 30.


β-catenin stabilization in gonadotropes impairs FSH synthesis in male mice in vivo.

Boerboom D, Kumar V, Boyer A, Wang Y, Lambrot R, Zhou X, Rico C, Boehm U, Paquet M, Céleste C, Kimmins S, Bernard DJ.

Endocrinology. 2015 Jan;156(1):323-33. doi: 10.1210/en.2014-1296.


Follicle-stimulating hormone synthesis and fertility depend on SMAD4 and FOXL2.

Fortin J, Boehm U, Deng CX, Treier M, Bernard DJ.

FASEB J. 2014 Aug;28(8):3396-410. doi: 10.1096/fj.14-249532. Epub 2014 Apr 16.


Bone morphogenetic protein 2 stimulates noncanonical SMAD2/3 signaling via the BMP type 1A receptor in gonadotrope-like cells: implications for FSH synthesis.

Wang Y, Ho CC, Bang E, Rejon CA, Libasci V, Pertchenko P, Hébert TE, Bernard DJ.

Endocrinology. 2014 May;155(5):1970-81. doi: 10.1210/en.2013-1741. Epub 2014 Mar 6.


Follicle-stimulating hormone synthesis and fertility are intact in mice lacking SMAD3 DNA binding activity and SMAD2 in gonadotrope cells.

Fortin J, Boehm U, Weinstein MB, Graff JM, Bernard DJ.

FASEB J. 2014 Mar;28(3):1474-85. doi: 10.1096/fj.13-237818. Epub 2013 Dec 5.


The IGSF1 deficiency syndrome: characteristics of male and female patients.

Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TM, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JA, Endert E, Hennekam RC, Lombardi MP, Mannens MM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg AS.

J Clin Endocrinol Metab. 2013 Dec;98(12):4942-52. doi: 10.1210/jc.2013-2743. Epub 2013 Oct 9.


The CpG island in the murine foxl2 proximal promoter is differentially methylated in primary and immortalized cells.

Tran S, Wang Y, Lamba P, Zhou X, Boehm U, Bernard DJ.

PLoS One. 2013 Oct 2;8(10):e76642. doi: 10.1371/journal.pone.0076642. eCollection 2013.


Activins bind and signal via bone morphogenetic protein receptor type II (BMPR2) in immortalized gonadotrope-like cells.

Rejon CA, Hancock MA, Li YN, Thompson TB, Hébert TE, Bernard DJ.

Cell Signal. 2013 Dec;25(12):2717-26. doi: 10.1016/j.cellsig.2013.09.002. Epub 2013 Sep 7.


Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.

Nakamura A, Bak B, Silander TL, Lam J, Hotsubo T, Yorifuji T, Ishizu K, Bernard DJ, Tajima T.

J Clin Endocrinol Metab. 2013 Oct;98(10):E1682-91. doi: 10.1210/jc.2013-1224. Epub 2013 Aug 21.


Photoperiod-dependent regulation of gonadotropin-releasing hormone 1 messenger ribonucleic acid levels in the songbird brain.

Stevenson TJ, Bernard DJ, McCarthy MM, Ball GF.

Gen Comp Endocrinol. 2013 Sep 1;190:81-7. doi: 10.1016/j.ygcen.2013.04.011. Epub 2013 May 7. Review.


NR5A2 regulates Lhb and Fshb transcription in gonadotrope-like cells in vitro, but is dispensable for gonadotropin synthesis and fertility in vivo.

Fortin J, Kumar V, Zhou X, Wang Y, Auwerx J, Schoonjans K, Boehm U, Boerboom D, Bernard DJ.

PLoS One. 2013;8(3):e59058. doi: 10.1371/journal.pone.0059058. Epub 2013 Mar 11.


Cycloheximide inhibits follicle-stimulating hormone β subunit transcription by blocking de novo synthesis of the labile activin type II receptor in gonadotrope cells.

Rejon CA, Ho CC, Wang Y, Zhou X, Bernard DJ, Hébert TE.

Cell Signal. 2013 Jun;25(6):1403-12. doi: 10.1016/j.cellsig.2013.03.002. Epub 2013 Mar 14.


Mechanisms of activin-stimulated FSH synthesis: the story of a pig and a FOX.

Bernard DJ, Tran S.

Biol Reprod. 2013 Mar 28;88(3):78. doi: 10.1095/biolreprod.113.107797. Print 2013 Mar. Review.

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