Results 161 to 170 of about 75,592 (343)

Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population

, 2021
Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang   +7 more
openalex   +1 more source

Pharmacological inhibition of hydroxysteroid 11‐beta dehydrogenase type 1 (11‐βHSD1) after myocardial infarction preserves cardiac function in a translational mini‐pig model

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Plasma glucocorticoids increase acutely after MI, thereafter tissue levels are amplified selectively within cells expressing 11‐ßhydroxysteroid dehydrogenase type 1 (11‐ßHSD1) that regenerates active glucocorticoids from circulating metabolites.
Sara Al Disi, Raimondo Ascione, Shazia Khan, Thomas Johnson, Eva Sammut, Vito Domenico Bruno, Daniel Baz Lopez, Carol‐Anne James, Joanna Simpson, Natalie Z. Homer, Michael Millar, Trisha Singh, Alex von Kreigsheim, Nick L. Mills, Brian R. Walker, Ruth Andrew, Scott P. Webster, Andrew Whittaker, Adrian Freeman, Gillian A. Gray   +19 more
wiley   +1 more source

Fertility in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review. [PDF]

Front Endocrinol (Lausanne)
Roszkowska Z, Bobrowicz M, Betlejewska J, Hubska J, Rak-Makowska B, Ambroziak U.   +5 more
europepmc   +1 more source

Lactate Accelerates Early Angiogenesis and Bone Regeneration Through Macrophage M1 Polarisation

Cell Proliferation, EarlyView.
During the early stage of bone defect healing, lactate accumulates and contributes to increasing NOD1 expression by stabilising HIF1α that in turn triggers a calcium influx, which ultimately polarises macrophages towards the M1 phenotype and accelerates vascularisation of endothelial cells.
Lulu Liu, Danning Ma, Jia Song, Boon Chin Heng, Ying Huang, Xuehui Zhang, Mingming Xu, Yan Wei, Tai Wei, Jinqi Wei, Xuliang Deng   +10 more
wiley   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, EarlyView.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Acute Encephalopathy with Unilateral Cortical-Subcortical Lesions in Two Unrelated Kindreds Treated with Glucocorticoids Prenatally for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Established Facts and Novel Insight [PDF]

, 2013
Sebastian Grunt, Maja Steinlin, Christian Weisstanner, M. Schöning, Primus E. Mullis, Christa E. Flück   +5 more
openalex   +1 more source

Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency

Journal of Steroid Biochemistry and Molecular Biology, 2020
M. Auer, L. Paizoni, L. Hofbauer, M. Rauner, Yiqing Chen, H. Schmidt, A. Huebner, M. Bidlingmaier, Nicole Reisch   +8 more
semanticscholar   +1 more source

Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop

Epilepsia, EarlyView.
Abstract Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its ...
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil‐Nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Günter Krämer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert‐Bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina von Stülpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano   +40 more
wiley   +1 more source

Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report. [PDF]

Cureus
Harada A, Anno T, Isobe H, Kaku K, Kaneto H.   +4 more
europepmc   +1 more source

Heterologous plastoquinone production using a newly identified O2‐dependent cyanobacterial hydroxylase

The FEBS Journal, EarlyView.
In this study, we confirm that PlqH is the hydroxylase operating in plastoquinone biosynthesis in photosynthetic cyanobacteria (Cyanobacteriia). Our phylogenetic analyses demonstrate that cyanobacterial PlqH homologues originated from hydroxylases involved in ubiquinone biosynthesis in bacteria. Plastoquinone production in Escherichia coli was achieved
Morgane Roger‐Margueritat, Margot Beltran, Juliette Schnoebelen, Laura Flandrin, Wafa Rezali, Eline Michel, Sophie S. Abby, Fabien Pierrel   +7 more
wiley   +1 more source