Results 61 to 70 of about 9,214 (219)

The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review

open access: yesReproductive 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

Exploring the dual role of endoplasmic reticulum stress in urological cancers: Implications for tumor progression and cell death interactions

open access: yesJournal 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

Deficiência combinada de 17α-hidroxilase/17,20 liase devido à mutação p.R96W no gene CYP17 em um paciente brasileiro [PDF]

open access: yes, 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
core   +3 more sources

Restoring function to inactivating G protein‐coupled receptor variants in the hypothalamic–pituitary–gonadal axis1

open access: yesJournal 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

An open‐source implementation of tree‐based scan statistics

open access: yesPharmacoepidemiology and Drug Safety, Volume 33, Issue 3, March 2024.
Abstract Purpose We develop an open‐source R package to implement tree‐based scan statistics (TBSS) analyses. Methods TBSS are data mining methods used by the United States Food and Drug Administration and the Centers for Disease Control. They simultaneously screen thousands of hierarchically aggregated outcomes to identify unsuspected adverse effects ...
Massimiliano Russo, Shirley V. Wang
wiley   +1 more source

Persistent mullerian duct syndrome with testicular seminoma in transverse testicular ectopia

open access: yesJournal of Human Reproductive Sciences, 2018
Persistent Mullerian Duct Syndrome (PMDS) is a disorder of male pseudohermaphroditism characterized by the persistence of Mullerian duct derivatives (uterus, fallopian tubes, and upper two-third of vagina) in a phenotypically and genotypically male ...
Sharada R Rane   +3 more
doaj   +1 more source

Histology and gametogenesis in Heleobia piscium (Cochliopidae) from the Multiple Use Reserve ‘‘Isla Martín García,’’ Buenos Aires, Argentina [PDF]

open access: yes, 2016
Heleobia piscium (d’Orbigny, 1835), a member of the Cochliopidae family found only in South America, is distributed from Entre Ríos, Delta del Paraná, and the littoral of the Río de la Plata down as far as to Punta Indio (Buenos Aires), the southernmost ...
Díaz, Ana Cristina   +1 more
core   +3 more sources

"Sexual differentiation: From genes to gender" [PDF]

open access: yes, 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

Testiculaire aandoening van seksuele differentiatie (78,XX SRY-negatief) bij een vrouwelijke Franse buldog [PDF]

open access: yes, 2015
A presumably female intact French bulldog of ten months old was presented to the Faculty of Veterinary Medicine of the Ghent University with an enlarged clitoris and purulent vaginal discharge. It was suggested to remove the enlarged clitoris as to avoid
De Rooster, Hilde   +6 more
core   +1 more source

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