In: The Journal of Clinical Endocrinology & Metabolism, 2018, vol. 103, no. 10, p. 3748-3756
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In: Human reproduction update, ///-
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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: Hormone Molecular Biology and Clinical Investigation, 2016, vol. 28, no. 1, p. 39-53
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In: Experimental Economics, 2014, vol. 17, no. 1, p. 154-172
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In: Journal of Pediatric Endocrinology and Metabolism, 2015, vol. 28, no. 7-8, p. 933-936
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In: Journal of experimental medicine, 2010, vol. 207, no. 7, p. 1525-1540
Hypomorphic RAG mutations, leading to limited V(D)J rearrangements, cause Omenn syndrome (OS), a peculiar severe combined immunodeficiency associated with autoimmune-like manifestations. Whether B cells play a role in OS pathogenesis is so far unexplored. Here we report the detection of plasma cells in lymphoid organs of OS patients, in which circulating B cells are undetectable. Hypomorphic...
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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: Journal of Youth and Adolescence, 2005, vol. 34, no. 5, p. 427-435
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In: Osteoporosis International, 2011, vol. 22, no. 10, p. 2689-2698
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