Results 61 to 70 of about 8,597 (215)
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism
Brazilian Journal of Medical and Biological Research, 1998 We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single ...
D.F. Cabral +2 more
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"Sexual differentiation: From genes to gender" [PDF]
, 1998 Amy Wisniewski is Assistant Professor of Biology at Drake University, Des Moines, Iowa. She can be contacted at amy.wisniewski@drake.eduA person's sex can be considered across various levels.
Migeon, Claude J., Wisniewski, Amy B.
core +2 more sources
The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review
Reproductive Medicine and Biology, Volume 24, Issue 1, January/December 2025.ABSTRACT Background Müllerian duct anomalies (MDAs) are developmental malformations of the female genital tract that present as a series of abnormalities within the reproductive tracts of females. The etiology of MDAs is complex and heterogeneous, especially genetic factors.
Lin He +6 more
wiley +1 more source
Persistent müllerian duct syndrome
Indian Journal of Pathology and Microbiology, 2009 Persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism characterized by the presence of the Mόllerian duct structures in an otherwise phenotypically as well as genotypically normal male.
Prakash Neeraj +2 more
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Flutamide-induced hypospadias in rats: A critical assessment. [PDF]
, 2017 This paper provides the first detailed description of flutamide-induced hypospadias in the rat based upon wholemount, histologic, three-dimensional reconstruction, scanning electron microscopic, and immunocytochemical analysis.
Baskin, Laurence +4 more
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Journal of Cell Communication and Signaling, Volume 18, Issue 4, December 2024.Abstract The endoplasmic reticulum (ER) is crucial for maintaining calcium balance, lipid biosynthesis, and protein folding. Disruptions in ER homeostasis, often due to the accumulation of misfolded or unfolded proteins, lead to ER stress, which plays a significant role in various diseases, especially cancer.
Najma Farahani +9 more
wiley +1 more source
Urology Case Reports, 2017 Hernia uteri inguinalis (HUI) is one of the rarest causes of male pseudo-hermaphroditism worldwide. We report the case of a 49-year-old male with discovery of this anomaly during inguinal hernia repair.
Lauren Pulido +4 more
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Journal of Neuroendocrinology, Volume 36, Issue 9, September 2024.Pharmacological chaperones (PC's) are an emerging class of cell permeant small molecules that can stabilise the folding of misfolded variant proteins, thus restoring function. G protein‐coupled receptors (GPCRs) are a family of plasma membrane associated receptors that have been shown to be amenable to PC rescue.
Tarryn Radomsky +3 more
wiley +1 more source
Deficiência combinada de 17α-hidroxilase/17,20 liase devido à mutação p.R96W no gene CYP17 em um paciente brasileiro [PDF]
, 2010 Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil.
Auchus, Richard J. +5 more
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Psychosocial considerations in the management of late-diagnosed male pseudohermaphroditism
The Turkish Journal of Pediatrics, 1994 Male pseudohermaphroditism (MPH), which causes ambiguous genitalia, rarely presents during adolescence. Herein we report two siblings diagnosed with MPH at the ages of 16 and 12 years and raised unambiguously as girls. Individuals with MPH provide
T Alkin, A Büyükgebiz, A Baykara
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