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367 results

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Page 1
Generation of functional oocytes from male mice in vitro.
Murakami K, Hamazaki N, Hamada N, Nagamatsu G, Okamoto I, Ohta H, Nosaka Y, Ishikura Y, Kitajima TS, Semba Y, Kunisaki Y, Arai F, Akashi K, Saitou M, Kato K, Hayashi K. Murakami K, et al. Nature. 2023 Mar;615(7954):900-906. doi: 10.1038/s41586-023-05834-x. Epub 2023 Mar 15. Nature. 2023. PMID: 36922585 Free article.
In oogenesis, the presence of an additional Y chromosome or the loss of an X chromosome disturbs the robust production of oocytes(1-5). Here we efficiently converted the XY chromosome set to XX without an additional Y chromosome in mouse pluripotent stem (PS) cells. …
In oogenesis, the presence of an additional Y chromosome or the loss of an X chromosome disturbs the robust production of oocy …
Clinical review: Klinefelter syndrome--a clinical update.
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Groth KA, et al. J Clin Endocrinol Metab. 2013 Jan;98(1):20-30. doi: 10.1210/jc.2012-2382. Epub 2012 Nov 1. J Clin Endocrinol Metab. 2013. PMID: 23118429 Review.
EVIDENCE SYNTHESIS: KS is the most common sex chromosome disorder in males, affecting one in 660 men. The genetic background is the extra X-chromosome, which may be inherited from either parent. Most genes from the extra X undergo inactivation, but some escape and s …
EVIDENCE SYNTHESIS: KS is the most common sex chromosome disorder in males, affecting one in 660 men. The genetic background is the extra …
The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes.
Sá R, Ferraz L, Barros A, Sousa M. Sá R, et al. Genes (Basel). 2023 Mar 4;14(3):647. doi: 10.3390/genes14030647. Genes (Basel). 2023. PMID: 36980920 Free PMC article. Review.
Klinefelter syndrome (KS), caused by the presence of an extra X chromosome, is the most prevalent chromosomal sexual anomaly, with an estimated incidence of 1:500/1000 per male live birth (karyotype 47,XXY). ...Endocrine (osteoporosis, obesity, diabetes), mus …
Klinefelter syndrome (KS), caused by the presence of an extra X chromosome, is the most prevalent chromosomal sexual anomaly, …
X-chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome.
Winge SB, Skakkebaek NE, Aksglaede L, Saritaş G, Rajpert-De Meyts E, Goossens E, Juul A, Almstrup K. Winge SB, et al. Cell Death Dis. 2024 Jun 5;15(6):396. doi: 10.1038/s41419-024-06792-6. Cell Death Dis. 2024. PMID: 38839795 Free PMC article.
Here, we show that the immature-like Sertoli cells highly expressed XIST and had two X-chromosomes, while the mature Sertoli cells lacked XIST expression and had only one X-chromosome. Sertoli cells supporting focal spermatogenesis also lacked XIST expression and th …
Here, we show that the immature-like Sertoli cells highly expressed XIST and had two X-chromosomes, while the mature Sertoli cells lacked XI …
Klinefelter syndrome: etiology and clinical considerations in male infertility.
Chen X, Zhang X, Jiang T, Xu W. Chen X, et al. Biol Reprod. 2024 Sep 14;111(3):516-528. doi: 10.1093/biolre/ioae076. Biol Reprod. 2024. PMID: 38785325 Review.
Klinefelter syndrome (KS) is the most prevalent chromosomal disorder occurring in males. It is defined by an additional X chromosome, 47,XXY, resulting from errors in chromosomal segregation during parental gametogenesis. A major phenotype is impaired reproductive f …
Klinefelter syndrome (KS) is the most prevalent chromosomal disorder occurring in males. It is defined by an additional X chromoso …
MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility.
Röpke A, Tüttelmann F. Röpke A, et al. Eur J Endocrinol. 2017 Nov;177(5):R249-R259. doi: 10.1530/EJE-17-0246. Epub 2017 Jun 13. Eur J Endocrinol. 2017. PMID: 28611019 Review.
Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the male-associated Y chromosome, may actually play an essential role in male infertility and sperm production. This is supported by the recent descri …
Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the male-associated Y ch …
Klinefelter syndrome.
Smyth CM, Bremner WJ. Smyth CM, et al. Arch Intern Med. 1998 Jun 22;158(12):1309-14. doi: 10.1001/archinte.158.12.1309. Arch Intern Med. 1998. PMID: 9645824 Review.
Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. ...As it affects 1 in 500 male patients and present …
Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which result …
Androgen insensitivity.
Gottlieb B, Pinsky L, Beitel LK, Trifiro M. Gottlieb B, et al. Am J Med Genet. 1999 Dec 29;89(4):210-7. doi: 10.1002/(sici)1096-8628(19991229)89:4<210::aid-ajmg5>3.0.co;2-p. Am J Med Genet. 1999. PMID: 10727996 Review.
Severe X-linked androgen receptor gene (AR) mutations cause complete androgen insensitivity, mild ones impair virilization with or without infertility, and moderate ones sometimes yield a wide phenotypic spectrum among sibs. Different expressivity may reflect variability o …
Severe X-linked androgen receptor gene (AR) mutations cause complete androgen insensitivity, mild ones impair virilization with or without …
X chromosome variants are associated with male fertility traits in two bovine populations.
Fortes MRS, Porto-Neto LR, Satake N, Nguyen LT, Freitas AC, Melo TP, Scalez DCB, Hayes B, Raidan FSS, Reverter A, Boe-Hansen GB. Fortes MRS, et al. Genet Sel Evol. 2020 Aug 12;52(1):46. doi: 10.1186/s12711-020-00563-5. Genet Sel Evol. 2020. PMID: 32787790 Free PMC article.

The QTL for sperm midpiece morphological abnormalities on chromosome X (QTL peak at 4.92 Mb, P < 10(-17)) is an example of a breed-specific QTL, supported by 143 significant SNPs (P < 10(-8)) in Brahman, but absent in Tropical Composites. Our GWAS results add evidenc

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The QTL for sperm midpiece morphological abnormalities on chromosome X (QTL peak at 4.92 Mb, P < 10(-17)) is an example of a breed

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Oncologic manifestations of Klinefelter syndrome.
Rojas AP, Vo DV, Mwangi L, Rehman S, Peiris AN. Rojas AP, et al. Hormones (Athens). 2020 Dec;19(4):497-504. doi: 10.1007/s42000-020-00241-7. Epub 2020 Oct 1. Hormones (Athens). 2020. PMID: 33000452 Review.
It is a condition characterized by an extra X chromosome and is an underdiagnosed clinical entity. Inactivation of genes enables their escape from regulatory mechanisms, which can result in such classic physical manifestations as hypogonadism, gynecomastia, infer …
It is a condition characterized by an extra X chromosome and is an underdiagnosed clinical entity. Inactivation of genes enabl …
367 results