In: The Journal of Clinical Endocrinology & Metabolism, 2018, vol. 103, no. 10, p. 3748-3756
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In: Journal of Pediatric Endocrinology and Metabolism, 2017, vol. 30, no. 12, p. 1321-1325
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In: International Journal of Molecular Sciences, 2020, vol. 21, no. 21, p. 8403
Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome...
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In: Scientific Reports, 2019, vol. 9, no. 1, p. 1–18
The chromobox homolog 2 (CBX2) was found to be important for human testis development, but its role in the human ovary remains elusive. We conducted a genome-wide analysis based on DNA adenine methyltransferase identification (DamID) and RNA sequencing strategies to investigate CBX2 in the human granulosa cells. Functional analysis revealed that CBX2 was upstream of genes contributing to ...
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In: Scientific Reports, 2019, vol. 9, no. 1, p. 1–14
Sex development, a complex and indispensable process in all vertebrates, has still not been completely elucidated, although new genes involved in sex development are constantly being discovered and characterized. Chromobox Homolog 2 (CBX2) is one of these new additions and has been identified through a 46,XY girl with double heterozygous variants on CBX2.1, causing Differences of Sex...
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In: The Journal of Clinical Endocrinology & Metabolism, 2018, vol. 103, no. 10, p. 3748–3756
Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. Although mutations in the estrogen receptor β gene ESR2 were found in 46, XY patients with differences of sex development, no genetic...
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In: Molecular Genetics & Genomic Medicine, 2018, vol. 6, no. 5, p. 785–795
Background One of the defining moments of human life occurs early during embryonic development, when individuals sexually differentiate into either male or female. Perturbation of this process can lead to disorders/differences of sex development (DSD). Chromobox protein homolog 2 (CBX2) has two distinct isoforms, CBX2.1 and CBX2.2: the role of CBX2.1 in DSD has been previously established,...
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