Results 121 to 130 of about 30,131 (248)

Hypospadias as a novel feature in spinal bulbar muscle atrophy [PDF]

open access: yes, 2016
Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene.
Almqvist, C.   +5 more
core   +1 more source

Protein Kinase C Family: Structures, Biological Functions, Diseases, and Pharmaceutical Interventions

open access: yesMedComm, Volume 6, Issue 11, November 2025.
Ligand–receptor binding activates PLC, which hydrolyzes the membrane lipid PIP2, generating the second messenger's IP3 and DAG. IP3 binding to ER receptors causes Ca2⁺ release. Subsequently, PKC are recruited to the membrane, which induces a conformational change in PKC, leading to the full enzymatic activation.
Yongqi Li   +8 more
wiley   +1 more source

Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome

open access: yesCase Reports in Obstetrics and Gynecology, 2013
Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound. Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ...
Vincenzo Mazza   +7 more
doaj   +1 more source

Renal Subcapsular xenografing of human fetal external genital tissue - A new model for investigating urethral development. [PDF]

open access: yes, 2017
In this paper, we introduce our novel renal subcapsular xenograft model for the study of human penile urethral and clitoral development. We grafted fifteen intact fetal penes and clitorides 8-11 weeks fetal age under the renal capsules of gonadectomized ...
Baskin, Laurence   +6 more
core   +2 more sources

Complete androgen insensitivity syndrome

open access: yesDefinitions, 2020
Presentation of the case. Phenotypically female patient, 18 years old, 46 XY karyotype, who was evaluated in a tertiary care center for pediatric medicine due to primary amenorrhea.
Rafael Alexis Contreras Cruz   +3 more
semanticscholar   +1 more source

Epigenetic Clock Analysis of Sex Chromosome Aneuploidies

open access: yesAging Cell, Volume 24, Issue 11, November 2025.
Next‐generation epigenetic clocks indicate lower age acceleration and slower pace of aging in 47,XXY than 46,XX, 46,XY, and 47,XYY. A first‐generation clock (Skin & Blood) indicates higher age acceleration in 47,XXY and 47,XYY than 46,XY, while higher naïve CD8+ T in 47,XXY than both 46,XY and 46,XX suggests reduced immunosenescence.
Joshua Zhang   +7 more
wiley   +1 more source

"Mixed germ cell testicular tumor" in an adult female

open access: yesJournal of Human Reproductive Sciences, 2012
The androgen insensitivity (testicular feminization) syndrome was described by Morris in phenotypic females with 46XY karyotype, presenting with primary amenorrhea, adequate breast development, and absent or scanty pubic or axillary hair.
Udasimath Shivakumarswamy   +3 more
doaj   +1 more source

Androgenetic alopecia: a review [PDF]

open access: yes, 2017
Purpose Androgenetic alopecia, commonly known as male pattern baldness, is the most common type of progressive hair loss disorder in men. The aim of this paper is to review recent advances in understanding the pathophysiology and molecular mechanism
Caro, Gemma   +7 more
core   +1 more source

Modulation of lactose synthesis and orexinergic‐glucose pathway by sex steroid hormones

open access: yesPhysiological Reports, Volume 13, Issue 22, November 2025.
Abstract Sex steroid hormones play a regulatory role in various metabolic processes, including glucose homeostasis via the orexinergic system and lactose synthesis. This review consolidates experimental findings on the mechanisms by which these hormones regulate these two pathways. A systematic search of PubMed, Scopus, and Web of Science identified 15
Jean Claude Hakizimana   +1 more
wiley   +1 more source

Comprehensive androgen-dependent transcriptome analysis in human genital tissue

open access: yesBMC Genomics
Background Androgen signalling through the androgen receptor (AR) is crucial for male genital development. Disruptions in this pathway are associated with androgen insensitivity syndrome (AIS), which is typically caused by mutations in the AR gene ...
Radhika Sivaprasad   +5 more
doaj   +1 more source

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