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Distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model of CHARGE syndrome (2017)
Journal Article
Whittaker, D. E., Kasah, S., Donovan, A. P. A., Ellegood, J., Riegman, K. L. H., Volk, H. A., …Basson, A. (2017). Distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model of CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(4), 465-477. https://doi.org/10.1002/ajmg.c.31595

Mutations in the gene encoding the ATP dependent chromatin‐remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital‐urinary anomalies, and Ear defects) syndrome.... Read More about Distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model of CHARGE syndrome.

Natriuretic peptide activation of extracellular regulated kinase 1/2 (ERK1/2) pathway by particulate guanylyl cyclases in GH3 somatolactotropes (2017)
Journal Article
Jonas, K. C., Melrose, T., Thompson, I. R., Baxter, G. F., Lipscomb, V. J., Niessen, S. J. M., …Fowkes, R. C. (2017). Natriuretic peptide activation of extracellular regulated kinase 1/2 (ERK1/2) pathway by particulate guanylyl cyclases in GH3 somatolactotropes. Cell and Tissue Research, 369(3), 567-578. https://doi.org/10.1007/s00441-017-2624-x

The natriuretic peptides, Atrial-, B-type and C-type natriuretric peptides (ANP, BNP, CNP), are regulators of many endocrine tissues and exert their effects predominantly through the activation of their specific guanylyl cyclase receptors (GC-A and G... Read More about Natriuretic peptide activation of extracellular regulated kinase 1/2 (ERK1/2) pathway by particulate guanylyl cyclases in GH3 somatolactotropes.

The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression (2017)
Journal Article
Whittaker, D. E., Riegman, K. L. H., Kasah, S., Mohan, C., Yu, T., Sala, B. P., …Basson, M. A. (2017). The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression. Journal of Clinical Investigation, 127(3), 874-887. https://doi.org/10.1172/JCI83408

The mechanisms underlying the neurodevelopmental deficits associated with CHARGE syndrome, which include cerebellar hypoplasia, developmental delay, coordination problems, and autistic features, have not been identified. CHARGE syndrome has been asso... Read More about The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.