Search Results - "O'Bryan, M K"

Elevated paternal glucocorticoid exposure alters the small noncoding RNA profile in sperm and modifies anxiety and depressive phenotypes in the offspring by Short, A K, Fennell, K A, Perreau, V M, Fox, A, O’Bryan, M K, Kim, J H, Bredy, T W, Pang, T Y, Hannan, A J

“…Recent studies have suggested that physiological and behavioral traits may be transgenerationally inherited through the paternal lineage, possibly via…”
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Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia by Oud, M S, Okutman, Ö, Hendricks, L A J, de Vries, P F, Houston, B J, Vissers, L E L M, O’Bryan, M K, Ramos, L, Chemes, H E, Viville, S, Veltman, J A

“…Abstract STUDY QUESTION Can exome sequencing identify new genetic causes of globozoospermia? SUMMARY ANSWER Exome sequencing in 15 cases of unexplained…”
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Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders by Oud, M S, Houston, B J, Volozonoka, L, Mastrorosa, F K, Holt, G S, Alobaidi, B K S, deVries, P F, Astuti, G, Ramos, L, Mclachlan, R I, O'Bryan, M K, Veltman, J A, Chemes, H E, Sheth, H

“…What are the causative genetic variants in patients with male infertility due to severe sperm motility disorders? We identified high confidence disease-causing…”
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A de novo paradigm for male infertility by Oud, M. S., Smits, R. M., Smith, H. E., Mastrorosa, F. K., Holt, G. S., Houston, B. J., de Vries, P. F., Alobaidi, B. K. S., Batty, L. E., Ismail, H., Greenwood, J., Sheth, H., Mikulasova, A., Astuti, G. D. N., Gilissen, C., McEleny, K., Turner, H., Coxhead, J., Cockell, S., Braat, D. D. M., Fleischer, K., D’Hauwers, K. W. M., Schaafsma, E., Nagirnaja, L., Conrad, D. F., Friedrich, C., Kliesch, S., Aston, K. I., Riera-Escamilla, A., Krausz, C., Gonzaga-Jauregui, C., Santibanez-Koref, M., Elliott, D. J., Vissers, L. E. L. M., Tüttelmann, F., O’Bryan, M. K., Ramos, L., Xavier, M. J., van der Heijden, G. W., Veltman, J. A.

“…De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role…”
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Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2 by Catford, SR, O'Bryan, MK, McLachlan, RI, Delatycki, MB, Rombauts, L

“…Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar atrophy, peripheral…”
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Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background by Krausz, C, Giachini, C, Xue, Y, O'Bryan, M K, Gromoll, J, Rajpert-de Meyts, E, Oliva, R, Aknin-Seifer, I, Erdei, E, Jorgensen, N, Simoni, M, Ballescà, J L, Levy, R, Balercia, G, Piomboni, P, Nieschlag, E, Forti, G, McLachlan, R, Tyler-Smith, C

“…Previous studies have compared sperm phenotypes between men with partial deletions within the AZFc region of the Y chromosome and non-carriers, with variable…”
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The Y chromosome gr/gr subdeletion is associated with male infertility by Lynch, M., Cram, D.S., Reilly, A., O’Bryan, M.K., Baker, H.W.G., de Kretser, D.M., McLachlan, R.I.

“…Men with Y chromosome (Yq) AZFc deletions lack all copies of the DAZ gene and have severe spermatogenic failure. A recently described gr/gr subdeletion of AZFc…”
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Health and fertility of ICSI-conceived young men: study protocol by Catford, S R, Lewis, S, Halliday, J, Kennedy, J, O’Bryan, M K, McBain, J, Amor, D J, Rombauts, L, Saffery, R, Hart, R J, McLachlan, R I

“…Abstract STUDY QUESTIONS What are the long-term health and reproductive outcomes for young men conceived using ICSI whose fathers had spermatogenic failure…”
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KATNB1 in the human testis and its genetic variants in fertile and oligoasthenoteratozoospermic infertile men by O'Donnell, L., McLachlan, R. I., Merriner, D. Jo, O'Bryan, M. K., Jamsai, D.

“…Summary Oligoasthenoteratozoospermia (OAT) is a phenotype frequently observed in infertile men, and is defined by low spermatozoa number, abnormal spermatozoa…”
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Polymorphisms in the human cysteine-rich secretory protein 2 (CRISP2) gene in Australian men by Jamsai, D., Reilly, A., Smith, S.J., Gibbs, G.M., Baker, H.W.G., McLachlan, R.I., de Kretser, D.M., O'Bryan, M.K.

“…BACKGROUND Cysteine-rich secretory protein 2 (CRISP2) is localized to the human sperm acrosome and tail. It can regulate ryanodine receptors Ca2+ gating and…”
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Immunohistochemical localization of endothelial nitric oxide synthase in human testis, epididymis, and vas deferens suggests a possible role for nitric oxide in spermatogenesis, sperm maturation, and programmed cell death by ZINI, A, O'BRYAN, M. K, MAGID, M. S, SCHLEGEL, P. N

“…Recent work has implicated nitric oxide (NO) in several aspects of male genital physiology including erectile function and androgen secretion, as well as in…”
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The metabolic health of young men conceived using intracytoplasmic sperm injection by Catford, S R, Halliday, J, Lewis, S, O'Bryan, M K, Handelsman, D J, Hart, R J, McBain, J, Rombauts, L, Amor, D J, Saffery, R, McLachlan, R I

“…Is the metabolic health of men conceived using ICSI different to that of IVF and spontaneously conceived (SC) men? ICSI-conceived men aged 18-24 years,…”
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Mouse models for genes involved in impaired spermatogenesis by O'Bryan, M. K., de Kretser, D.

“…Summary Since the introduction of molecular biology and gene ablation technologies there have been substantial advances in our understanding of how sperm are…”
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Expression patterns of HENMT1 and PIWIL1 in human testis: implications for transposon expression by Hempfling, A L, Lim, S L, Adelson, D L, Evans, J, O’Connor, A E, Qu, Z P, Kliesch, S, Weidner, W, O’Bryan, M K, Bergmann, M

“…This study aimed to define the expression patterns of HENMT1 and PIWI proteins in human testis and investigate their association with transposon expression,…”
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Lack of evidence for a role of PIWIL1 variants in human male infertility by Oud, M.S., Volozonoka, L., Friedrich, C., Kliesch, S., Nagirnaja, L., Gilissen, C., O’Bryan, M.K., McLachlan, R.I., Aston, K.I., Tüttelmann, F., Conrad, D.F., Veltman, J.A.

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Long‐term follow‐up of ICSI‐conceived offspring compared with spontaneously conceived offspring: a systematic review of health outcomes beyond the neonatal period by Catford, S. R., McLachlan, R. I., O'Bryan, M. K., Halliday, J. L.

“…Background A significant increase in the use of intracytoplasmic sperm injection (ICSI) since its introduction in 1992 has been observed worldwide, including…”
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GGN1 in the testis and ovary and its variance within the Australian fertile and infertile male population by Jamsai, D., Sarraj, M. A., Merriner, D. J., Drummond, A. E., Jones, K. T., McLachlan, R. I., O'Bryan, M. K.

“…Summary Mouse gametogenetin (Ggn) is a testis‐enriched gene that encodes multiple spliced transcripts giving rise to three predicted protein isoforms: GGN1,…”
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Genetic variants in the human glucocorticoid‐induced leucine zipper (GILZ) gene in fertile and infertile men by Jamsai, D., Grealy, A., Stahl, P. J., Schlegel, P. N., McLachlan, R. I., Morand, E., O'Bryan, M. K.

“…Summary Sertoli cell only (SCO) syndrome is the predominant histology for men with non‐obstructive azoospermia (NOA) and is usually of unexplained aetiology…”
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Developmental Expression of Thyroid Hormone Receptors in the Rat Testis by Jeremy J. Buzzard, John R. Morrison, Moira K. O'Bryan, Qing Song, Nigel G. Wreford

“…Sertoli cell proliferation in the rat is completed by Days 15–20 postnatally. Thyroid hormones appear to regulate the duration of Sertoli cell proliferation,…”
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Expression of monocyte chemoattractant protein-1 and macrophage colony-stimulating factor in normal and inflamed rat testis by Gerdprasert, O., O'Bryan, M.K., Nikolic-Paterson, D.J., Sebire, K., de Kretser, D.M., Hedger, M.P.

“…Macrophages are numerous in the testicular interstitial tissue under normal conditions and increase during inflammation. The mechanisms involved are poorly…”
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