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Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Balasubramanian R, Crowley WF Jr. Balasubramanian R, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):507-515. doi: 10.1002/ajmg.c.31585. Epub 2017 Nov 20. Am J Med Genet C Semin Med Genet. 2017. PMID: 29152903 Free PMC article. Review.
These missense mutations affect the ATPase and nucleosome remodeling activities of the CHD7 protein. These observations suggest that CHD7 protein function is critical for the ontogeny of GnRH neurons and neuroendocrine regulation of GnRH secretion....
These missense mutations affect the ATPase and nucleosome remodeling activities of the CHD7 protein. These observations suggest that …
Pubertal timing predicts adult psychosexuality: Evidence from typically developing adults and adults with isolated GnRH deficiency.
Shirazi TN, Self H, Dawood K, Cárdenas R, Welling LLM, Rosenfield KA, Ortiz TL, Carré JM, Balasubramanian R, Delaney A, Crowley W, Breedlove SM, Puts DA. Shirazi TN, et al. Psychoneuroendocrinology. 2020 Sep;119:104733. doi: 10.1016/j.psyneuen.2020.104733. Epub 2020 Jun 6. Psychoneuroendocrinology. 2020. PMID: 32563936 Free PMC article.
We test this hypothesis in typically developing men (n = 231) and women (n = 648), and in men (n = 72) and women (n = 32) with isolated GnRH deficiency (IGD), in whom the precise timing of peripubertal hormone exposure can be ascertained via the age at which …
We test this hypothesis in typically developing men (n = 231) and women (n = 648), and in men (n = 72) and women (n = 32) with isolated …
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.
Martin C, Balasubramanian R, Dwyer AA, Au MG, Sidis Y, Kaiser UB, Seminara SB, Pitteloud N, Zhou QY, Crowley WF Jr. Martin C, et al. Endocr Rev. 2011 Apr;32(2):225-46. doi: 10.1210/er.2010-0007. Epub 2010 Oct 29. Endocr Rev. 2011. PMID: 21037178 Free PMC article. Review.
A widely dispersed network of hypothalamic GnRH neurons controls the reproductive axis in mammals. Genetic investigation of the human disease model of isolated GnRH deficiency has revealed several key genes crucial for GnRH neuronal ontogeny and GnRH secretio …
A widely dispersed network of hypothalamic GnRH neurons controls the reproductive axis in mammals. Genetic investigation of the human diseas …
Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.
Dwyer AA, Chavan NR, Lewkowitz-Shpuntoff H, Plummer L, Hayes FJ, Seminara SB, Crowley WF, Pitteloud N, Balasubramanian R. Dwyer AA, et al. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3403-3414. doi: 10.1210/jc.2018-02697. J Clin Endocrinol Metab. 2019. PMID: 31220265 Free PMC article.
INTERVENTIONS: Clinical assessment, biochemical and neuroendocrine profiling, body composition, semen analysis, and genetic evaluation of genes known to cause isolated GnRH deficiency. MAIN OUTCOME MEASURES: Reproductive hormone levels, endogenous GnRH-induce …
INTERVENTIONS: Clinical assessment, biochemical and neuroendocrine profiling, body composition, semen analysis, and genetic evaluation of ge …
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF Jr. Balasubramanian R, et al. Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):17953-8. doi: 10.1073/pnas.1417438111. Epub 2014 Dec 3. Proc Natl Acad Sci U S A. 2014. PMID: 25472840 Free PMC article.
Functional analyses in zebrafish using a surrogate otolith assay of a representative set of these CHD7 alleles showed that rare sequence variants observed in controls showed no altered function. In contrast, 75% of the IGD-associated alleles were deleterious and resulted i …
Functional analyses in zebrafish using a surrogate otolith assay of a representative set of these CHD7 alleles showed that rare sequence var …
Timing of peripubertal steroid exposure predicts visuospatial cognition in men: Evidence from three samples.
Shirazi TN, Self H, Cantor J, Dawood K, Cárdenas R, Rosenfield K, Ortiz T, Carré J, McDaniel MA, Blanchard R, Balasubramanian R, Delaney A, Crowley W, Breedlove SM, Puts D. Shirazi TN, et al. Horm Behav. 2020 May;121:104712. doi: 10.1016/j.yhbeh.2020.104712. Epub 2020 Feb 18. Horm Behav. 2020. PMID: 32059854 Free PMC article.
We conducted 4 studies to clarify whether the timing of peripubertal hormone exposure predicts performance on male-typed tests of spatial cognition in adulthood. ...In Study 3 (n = 51), we examined the relationship between spatial performance and the age at which peripuber …
We conducted 4 studies to clarify whether the timing of peripubertal hormone exposure predicts performance on male-typed tests of spa …
Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.
Cox KH, Oliveira LMB, Plummer L, Corbin B, Gardella T, Balasubramanian R, Crowley WF. Cox KH, et al. Hum Mol Genet. 2018 Jan 15;27(2):338-350. doi: 10.1093/hmg/ddx404. Hum Mol Genet. 2018. PMID: 29161432 Free PMC article.
This problem is well-illustrated by PROKR2 variants associated with Isolated GnRH Deficiency (IGD). Homozygous, loss of function variants in PROKR2 was initially implicated in autosomal recessive IGD; however, most IGD-associated PROKR2 variants are heterozyg …
This problem is well-illustrated by PROKR2 variants associated with Isolated GnRH Deficiency (IGD). Homozygous, loss of …
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF Jr, Vallejo M. Georgopoulos NA, et al. J Clin Endocrinol Metab. 1997 Jan;82(1):213-7. doi: 10.1210/jcem.82.1.3692. J Clin Endocrinol Metab. 1997. PMID: 8989261
Isolated GnRH deficiency is a heritable condition characterized by a functional deficit in GnRH secretion. ...All identified genetic defects occur within the fibronectin type III repeats of the predicted protein encoded by the KAL-1 gene. In conclusion …
Isolated GnRH deficiency is a heritable condition characterized by a functional deficit in GnRH secretion. ...All ident …