Results 91 to 100 of about 4,073 (218)

Disorders of sex development: challenges for the future [PDF]

open access: yes, 2012
No abstract ...
Ahmed   +14 more
core   +1 more source

Single‐Cell Atlas Reveals Tumorigenic Profiles and Immune Dynamics of Adrenal Incidentalomas

open access: yesAdvanced Science, Volume 12, Issue 22, June 12, 2025.
Single‐cell RNA sequencing reveals cellular heterogeneity in adrenal incidentalomas, identifying distinct tumor cell populations. Clusterin is recognized as a biomarker for adrenocortical tumors, correlating with established markers. MYCN‐positive clusters in pheochromocytomas indicated poorer survival.
Meng Wang   +18 more
wiley   +1 more source

Atualização em etiologia, diagnóstico e manejo da precocidade sexual [PDF]

open access: yes, 2008
Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Gonadotropin-dependent precocious puberty (GDPP) results from the premature activation of the hypothalamic ...
ARNHOLD, Ivo J. P.   +3 more
core   +2 more sources

Generation and characterization of a mitotane-resistant adrenocortical cell line [PDF]

open access: yes, 2020
Mitotane is the only drug approved for the therapy of adrenocortical carcinoma (ACC). Its clinical use is limited by the occurrence of relapse during therapy.
Bachmann, Sebastian   +14 more
core   +2 more sources

Effects of Oxidative Stress Gene Protein, Expression, and DNA Methylation on Multiple Sclerosis: A Multi‐Omics Mendelian Randomized Study

open access: yesBrain and Behavior, Volume 15, Issue 6, June 2025.
Mendelian randomization (MR) and colocalization analysis were used to study the relationship between oxidative stress genes and multiple sclerosis by integrating multiple omics, and finally, two significant genes related to STAT3 and CR1 were obtained.
Yang Li   +3 more
wiley   +1 more source

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

open access: yesIndian Journal of Endocrinology and Metabolism, 2014
Objectives: The objective was to seek evidence on the prevalence and consequences of heterozygous CYP21A2 mutations in girls, adolescent, and adult females with clinical manifestation of androgen excess.
Vassos Neocleous   +4 more
doaj   +1 more source

TSPO: kaleidoscopic 18-kDa amid biochemical pharmacology, control and targeting of mitochondria [PDF]

open access: yes, 2016
The 18-kDa translocator protein (TSPO) localizes in the outer mitochondrial membrane (OMM) of cells and is readily up-regulated under various pathological conditions such as cancer, inflammation, mechanical lesions and neurological diseases. Able to bind
Aghazadeh   +189 more
core   +1 more source

Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
The overall genotype–phenotype concordance was found to be 73.1% (68/93). The expected concordance with the SW form of the null (n = 12) and A (n = 51) groups is 91.6% and 88.2%, respectively. While the percentage of the expected clinical form of SV in patients in group B (n = 5) was 80%, the concordance for the expected clinical form of NC for group C
Nurgul Atas   +2 more
wiley   +1 more source

Adrenal Insufficiency Associated Cardiomyopathy, From Molecule to Clinic: A Comprehensive Review

open access: yesHealth Science Reports, Volume 8, Issue 5, May 2025.
ABSTRACT Background and Aim Adrenal insufficiency (AI), the lack of glucocorticoids (GCs) production or function with or without a lack of mineralocorticoids (MCs) and adrenal androgens, can result in uncommon but life‐threatening complications like shock, circulatory failure, syncope, arrhythmias, dilated cardiomyopathy (DCM), and congestive heart ...
Narges Bazgir   +4 more
wiley   +1 more source

A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia

open access: yesSaudi Medical Journal, 2015
The aim of this study is to determine congenital adrenal hyperplasia (CAH) with the pattern of CYP21A2 gene-mutations in Saudi children.Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, we thoroughly examined 11 patients with CAH and 2 asymptomatic individuals with a history of affected siblings.
Mohamed, Sarar   +4 more
openaire   +2 more sources

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