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, 2019, vol. 20, no. 21, p. 5495
Sex development is a complex process involving many genes and hormones. Defects in this process lead to Differences of Sex Development (DSD), a group of heterogeneous conditions not as rare as previously thought. Part of the obstacles in proper management of these patients is due to an incomplete understanding of the genetics programs and molecular pathways involved in sex development and...
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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: Frontiers in Genetics, 2018, vol. 9, p. -
Sertoli cells are main players in the male gonads development and their study may shed light on 46,XY disorders of sex development (DSD). Mature primary Sertoli cells are incapable of proliferating in prolonged in vitro cultures and the available Sertoli cell models have several limitations since they derive from mouse or human cancer tissues. We differentiated human fibroblasts (HFs)-derived...
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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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In: Journal of Inherited Metabolic Disease, 2007, vol. 30, no. 5, p. 832-832
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In: Journal of Inherited Metabolic Disease, 2007, vol. 30, no. 4, p. 563-575
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