National Centers for Translational Research in Reproduction and Infertility
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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)