Bernard, Daniel J

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Sun, Y., Bak, B., Schoenmakers, N., van Trotsenburg, A. S. P., Oostdijk, W., Voshol, P., Cambridge, E., White, J. K., le Tissier, P., Gharavy, S. N. M., et al. (2012) · Nature Genetics

Thyroid Disorders and TreatmentsHypothalamic control of reproductive hormones

Cited by 217

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

Joustra, S. D., Heinen, C. A., Schoenmakers, N., Bonomi, M., Ballieux, B. E. P. B., Turgeon, M.-O., Bernard, D. J., Fliers, E., van Trotsenburg, A. S. P., Losekoot, M., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Immunodeficiency and Autoimmune DisordersThyroid Disorders and Treatments

Cited by 91

Impaired Fertility and FSH Synthesis in Gonadotrope-Specific Foxl2 Knockout Mice

Tran, S., Zhou, X., Lafleur, C., Calderon, M. J., Ellsworth, B. S., Kimmins, S., Boehm, U., Treier, M., Boerboom, D., & Bernard, D. J. (2013) · Molecular Endocrinology

Hypothalamic control of reproductive hormonesReproductive Biology and Fertility

Cited by 74

A novel IGSF 1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF 1 deficiency syndrome

Roche, E. F., McGowan, A., Koulouri, O., Turgeon, M., Nicholas, A. K., Heffernan, E., El‐Khairi, R., Abid, N., Lyons, G., Halsall, D., et al. (2018) · Clinical Endocrinology

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 29

Sex- and Age-Specific Impact of ERK Loss Within the Pituitary Gonadotrope in Mice

Brown, J. L., Xie, J., Brieño-Enriquez, M. A., Sones, J., Angulo, C. N., Boehm, U., Miller, A., Toufaily, C., Wang, Y., Bernard, D. J., et al. (2018) · Endocrinology

Hypothalamic control of reproductive hormonesReproductive Biology and Fertility

Cited by 14

Activin E is a transforming growth factor β ligand that signals specifically through activin receptor-like kinase 7

Vestal, K. A., Kattamuri, C., Koyiloth, M., Ongaro, L., Howard, J. A., Deaton, A. M., Ticau, S., Dubey, A., Bernard, D. J., & Thompson, T. B. (2024) · Biochemical Journal

TGF-β signaling in diseasesDevelopmental Biology and Gene Regulation

Cited by 10

Activin E is a TGFβ ligand that signals specifically through activin receptor-like kinase 7

Vestal, K. A., Kattamuri, C., Koyiloth, M., Ongaro, L., Howard, J. A., Deaton, A., Ticau, S., Dubey, A., Bernard, D. J., & Thompson, T. B. (2023) · Biochemical Journal

TGF-β signaling in diseasesDevelopmental Biology and Gene Regulation

Cited by 10