Results 61 to 70 of about 19,474 (186)

Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency [PDF]

Journal of Human Genetics, 1999
We have designed a rapid and convenient strategy to determine nine of the most common mutations in the 21-hydroxylase gene (CYP21). The frequency of the mutations was investigated in 34 Japanese patients affected with congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency. We characterized 82% of the CAH chromosomes. The most frequent
A, Asanuma, T, Ohura, E, Ogawa, S, Sato, Y, Igarashi, Y, Matsubara, K, Iinuma   +6 more
openaire   +2 more sources

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, EarlyView.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods

Journal of Biomedical Science, 2009
Background Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and ...
Varma R Raveendra, Saravanan Chinnaraj, Anwaruddin Mohammad, Idicula-Thomas Susan, Dubey Sudhisha, Maitra Anurupa   +5 more
doaj   +1 more source

Multifaceted roles of BBX transcription factors: impacts on key agronomical traits and environmental resilience

New Phytologist, EarlyView.
Summary B‐box (BBX) proteins were initially characterized as transcription factors connecting light signaling to the regulation of flowering time and seedling photomorphogenesis. However, over the last decade, increasing evidence has shown that they integrate light and hormone signaling, modulating multiple physiological processes during plant life. In
Bruno Silvestre Lira, Juliene Moreira, Luciano Freschi, Magdalena Rossi   +3 more
wiley   +1 more source

Nanoparticles with curcumin and piperine modulate steroid biosynthesis in prostate cancer

Scientific Reports
Endogenous androgens are pivotal in the development and progression of prostate cancer (PC). We investigated nanoparticle formulations of curcumin and piperine in modulating steroidogenesis within PC cells.
Jibira Yakubu, Evangelos Natsaridis, Therina du Toit, Isabel Sousa Barata, Oya Tagit, Amit V. Pandey   +5 more
doaj   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 923-928, April 2026.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Mapping molluscan endocrinology: a systematic and critical appraisal

Biological Reviews, Volume 101, Issue 2, Page 970-1002, April 2026.
ABSTRACT Historically, a vertebrate‐centric paradigm has framed our interpretation of molluscan endocrinology, with considerable research focusing on vertebrate‐type steroid hormones (e.g. oestrogens, testosterone). However, contradictory evidence on the occurrence of vertebrate‐type steroid hormones in molluscan tissues, and a lack of the specific ...
Konstantinos Panagiotidis, Thomas H. Miller, Olwenn V. Martin, Alice Baynes   +3 more
wiley   +1 more source

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

JCRPE, 2020
Objective:Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen
Tülay Güran, Başak Tezel, Meltem Çakır, Ayşehan Akıncı, Zerrin Orbak, Mehmet Keskin, Beray Selver Eklioğlu, Alev Ozon, Mehmet Nuri Özbek, Gülay Karagüzel, Nihal Hatipoğlu, Fatih Gürbüz, Filiz Mine Çizmecioğlu, Cengiz Kara, Enver Şimşek, Firdevs Baş, Murat Aydın, Feyza Darendeliler   +17 more
doaj   +1 more source

Steroid 21-hydroxylase expression and activity in human lymphocytes

Molecular and Cellular Endocrinology, 1997
Steroid 21-hydroxylase encoded by CYP21 is expressed in adrenal cortex. Mutations in CYP21 cause potentially lethal congenital adrenal hyperplasia (CAH). Earlier observations suggested alternative sources of 21-hydroxylase activity, although its genetic source remains unclear.
Z, Zhou, V R, Agarwal, N, Dixit, P, White, P W, Speiser   +4 more
openaire   +2 more sources

A Review of Vagus Nerve Stimulation for Disease: Comprehensive Theory and Evidence for Mechanisms of Action

Comprehensive Physiology, Volume 16, Issue 2, April 2026.
Vagus nerve stimulation (VNS) effects span central and peripheral organ systems through diverse mechanistic pathways. This comprehensive review provides a unified synthesis of these mechanisms across neurological, cardiovascular, immunological, metabolic, and gastrointestinal domains, filling a critical gap and serving as a foundational resource for ...
Yifeng Bu, Alex Liang, Benjamin U. Hoffman, Dawn M. Schiehser, Oliver Case, Alan Simmons, Ruth Klaming, Andres Gottfried‐Blackmore, Ravinder K. Mittal, Christopher Puleo, Hubert Lim, Imanuel Lerman   +11 more
wiley   +1 more source