National Centers for Translational Research in Reproduction and Infertility

Recent Publications

Harvard University

Min, L., Soltis, K., Reis, A.C., Xu, S., Kuohung, W., Jain, M., Carroll, R.S., and Kaiser, U.B.  (2014)  Dynamic kisspeptin receptor trafficking modulates kisspeptin-mediated calcium signaling.  Mol Endocrinol 28:16-27.

Noel, S.D., Abreu, A.P., Xu, S., Muyide, T., Gianett,i E., Tusset, C., Carroll, J., Latronico, A.C., Seminara, S.B., Carroll, R.S., and Kaiser, U.B. (2014)  TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients. FASEB J. 28:1924-1937.

Sidhoum, V.F., Chan, Y.M., Lippincott, M.F., Balasubramanian, R., Quinton, R., Plummer, L., Dwyer, A., Pitteloud, N., Hayes, F.J., Hall, J.E., Martin, K.A., Boepple, P.A.,and Seminara, S.B. (2014) Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System. J Clin Endocrinol Metab 99:861-870.

Balasubramanian, R., Cohen, D.A., Klerman, E.B., Pignatelli, D., Hall, J.E., Dwyer, A.A., Czeisler, C.A., Pitteloud, N., and Crowley, W.F., Jr. (2014) Absence of Central Circadian Pacemaker Abnormalities in Humans With Loss of Function Mutation in Prokineticin 2. J Clin Endocrinol Metab 99:E561-566.

Salian-Mehta, S., Xu, M., Knox, A., Plummer, L., Slavov, D., Taylor, M., Bevers, S., Hodges, R., Crowley, W. Jr., and Wierman, M. (2014) Functional Consequences of AXL Sequence Variants in Idiopathic Hypogonadotropic Hypogonadism. J Clin Endocrinol Metab 99:1452-1460.

Calder, M., Chan, Y.M., Raj, R., Pampillo, M., Elbert, A., Noonan, M., Gillio-Meina, C., Caligioni, C., Bérubé, N.G., Bhattacharya, M., Watson, A.J., Seminara, S.B., and Babwah, A.V. (2014) Implantation failure in female kiss1(-/-) mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor. Endocrinology 155:3065-3078.

Macedo, D.B., Abreu, A.P., Reis, A.C., Montenegro, L.R., Dauber, A., Beneduzzi, D., Cukier, P., Silveira, L.F., Teles, M.G., Carroll, R.S., Junior, G.G., Filho, G.G., Gucev, Z., Arnhold, I.J., de Castro, M., Moreira, A.C., Martinelli, C.E. Jr, Hirschhorn, .JN., Mendonca, B.B., Brito, V.N., Antonini, S.R., Kaiser, U.B., and Latronico, A.C. (2014) Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. J Clin Endocrinol Metab 9:E1097-1103.

Beneduzzi, D., Trarbach, E.B., Min, L., Jorge, A.A., Garmes, H.M., Renk, A.C., Fichna, M., Fichna, P., Arantes, K.A., Costa, E.M., Zhang, A., Adeola, O., Wen, J., Carroll, R.S., Mendonça, B.B., Kaiser, U.B., Latronico, A.C., and Silveira, L.F. (2014) Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. Fertil Steril 102:838-846.e2.

Ahow, M., Min, L., Pampillo, M., Nash, C., Wen, J., Soltis, K., Carroll, R.S., Glidewell-Kenney, C.A., Mellon, P.L., Bhattacharya, M., Tobet, S.A., Kaiser, U.B., and Babwah, A.V. (2014) KISS1R signals independently of Gαq/11 and triggers LH secretion via the β-arrestin pathway in the male mouse. Endocrinology 155:4433-4446.

Balasubramanian, R., Choi, J.H., Francescatto, L., Willer, J., Horton, E.R., Asimacopoulos, E.P., Stankovic, K.M., Plummer, L., Buck, C.L., Quinton, R., Nebesio, T.D., Mericq, V., Merino, P.M., Meyer, B.F., Monies, D., Gusella, J.F., Al Tassan, N., Katsanis, N., and Crowley, W.F. Jr. (2014) Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proc Natl Acad Sci (USA) 111:17953-17958.

Chan, Y.M., Lippincott, M.F., Butler, J.P., Sidhoum, V.F., Li, C.X., Plummer, L., and Seminara, S.B. (2014) Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 99:E2762-2771.

True, C., Nasrin Alam, S., Cox, K., Chan, Y.M., and Seminara, S.B. (2015) Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice. Endocrinology 156:1386-1397.

Min, L., Leon, S., Li, H., Pinilla, L., Carroll, R.S., Tena-Sempere, M., and Kaiser, U.B. (2015) RF9 acts as a KISS1R agonist in vivo and in vitro. Endocrinology 156:1386-1397.

Navarro, V.M., Bosch, M.A., León, S., Simavli, S., True, C., Pinilla, L., Carroll, R.S., Seminara, S.B., Tena-Sempere, M., Rønnekleiv, O.K., and Kaiser, U.B. (2015) The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction. Endocrinology 156:627-637.

Choi, J-H., Balasubramanian, R., Lee, P.H., Shaw, N.D., Hall, J.E., Plummer, L., Buck, C.L., Kottler, M-L., Jarzabek, K., Wołczynski, S., Quinton, R., Latronico, A.C., Dode, C., Ogata, T., Kim, H-G., Layman, L.C., Gusella, J.F., and Crowley Jr, W.F. (2015) Expanding the spectrum of founder mutations causing Isolated Gonadotropin-Releasing Hormone deficiency. J Clin Endocrinol Metab 100:E1375-1385.

Lippincott, M.F., Chan, Y.M., Delaney, A., Rivera-Morales, D., Butler, J.P., and Seminara, S.B.  (2016)  Kisspeptin responsiveness signals emergence of reproductive endocrine activity: Implications for human puberty.  J Clin Endocrinol Metab 101:3061-3069.

Richards, M.R., Plummer, L., Chan, Y.M., Lippincott, M.F., Quinton, R., Kumanov, P., Seminara, S.B.  (2016)  Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.  J Med Genet 54:19-25.

Katsanis, N.  The continuum of causality in human genetic disorders.  (2016)  Genome Biol 17:233. (Review)