Results 71 to 80 of about 75,592 (343)

Increased Risk of Autoimmune Disorders in 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study

Journal of the Endocrine Society, 2019
Context The prevalence of autoimmune disorders in individuals with 21-hydroxylase deficiency (21OHD) is unclear. The gene responsible, CYP21A2, is located in a highly immunologically active region.
H. Falhammar, L. Frisén, A. Hirschberg, A. Nordenskjöld, C. Almqvist, A. Nordenström   +5 more
semanticscholar   +1 more source

Unraveling the Morphological and Functional Maturation Mechanisms Underlying Human Neural Development Using iPSCs‐Derived Neuronal Model

Advanced Science, EarlyView.
Using human induced pluripotent stem cells (hiPSCs)‐derived neuronal model, Tian and colleagues reveal that voltage‐gated calcium channels Cav1.2 and Cav1.3, and their mediated calcium ion influx, are essential for early morphogenesis of human neuronal development, while ECEL1 underlies human neuronal functional developmental maturation through CALM3 ...
Yue Tian, Yi‐Chun Ou, Zi‐Xian Zhang, Jie Cai, Si‐Qing Cai, Guo‐Gang Xing   +5 more
wiley   +1 more source

Management of 21 hydroxylase deficiency salt-wasting form of congenital adrenal hyperplasia

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2012
 DOI: http://dx.doi.org/10.4038/sjdem.v1i1.4186 Sri Lanka Journal of Diabetes Endocrinology and Metabolism 2011; 1: 28-29   
KSH de Silva
doaj   +1 more source

Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency

Molecular Genetics & Genomic Medicine, 2019
Steroid 21‐hydroxylase deficiency (21OHD) is the most common enzymatic defect, but the genotype–phenotype associations have not been well established in Chinese patients. Here, a Chinese 21OHD cohort was enrolled to investigate the clinical, biochemical,
Chao Xu, Wenyu Jia, Xiangdeng Cheng, Hui Ying, J. Chen, Jin Xu, Q. Guan, Xinli Zhou, Dongmei Zheng, Guimei Li, Jiajun Zhao   +10 more
semanticscholar   +1 more source

Increased Blood Flow and Tendon Swelling Precedes Vascular Expansion and Tissue Matrix Changes In Early Human Tendinopathy: A Potential Window for Superior Treatment Response

Advanced Science, EarlyView.
Human participants with early‐ or chronic‐stage tendinopathy and healthy controls are investigated using ultrasound Doppler, 3T and 7T MRI, and tendon biopsies. Tendon swelling and hyperperfusion are evident early, while vascular growth and extracellular matrix changes are most pronounced in chronic tendinopathy. Early intervention may provide superior
Max F. R. Merkel, Nikolaj M. Malmgaard‐Clausen, Marius Lendal, Hartwig R. Siebner, René B. Svensson, Stephanie G. Dakin, Marcus Krüger, Luisa Schmidt, Jakob Agergaard, Ching‐Yan Chloé Yeung, S. Peter Magnusson, Michael Kjaer   +11 more
wiley   +1 more source

Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba [PDF]

, 2021
Tania Mayvel Espinosa Reyes, Teresa Collazo Mesa, Paulina Arasely Lantigua Cruz, Adriana Agramonte Machado, Emma Domínguez Alonso, Henrik Falhammar   +5 more
openalex   +1 more source

11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency

Journal of Clinical Endocrinology and Metabolism, 2017
Context: Patients with 21-hydroxylase deficiency (21OHD) have long-term complications, resulting from poor disease control and/or glucocorticoid overtreatment.
Adina F. Turcu, A. Mallappa, M. Elman, N. Avila, Jamie Marko, Hamsini Rao, A. Tsodikov, R. Auchus, D. Merke   +8 more
semanticscholar   +1 more source

Targeting Microglial CD49a Inhibits Neuroinflammation and Demonstrates Therapeutic Potential for Parkinson's Disease

Advanced Science, EarlyView.
This study shows that integrin receptor CD49a (Itga1 gene) is significantly upregulated in hyperactivated microglia and microglia‐specific knockdown of Itga1 rescues neuroinflammation and neurodegeneration in a chronic Parkinson's disease (PD) model by targeting PGAM5‐mediated mitochondrial dysfunction and NLRP3 activation. Targeted inhibition of CD49a
Huanpeng Lu, Yunmin Zhu, Xi Wang, Zelin Wu, Zijian Xu, Rongqing Chen, Yanwu Guo   +6 more
wiley   +1 more source

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

Molecular Genetics & Genomic Medicine, 2019
Background 21‐hydroxylase deficiency (21‐OHD) is caused due to CYP21A2 gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms.
Satoko Umino, Miyuki Kitamura, Yuko Katoh‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga   +6 more
doaj   +1 more source

Discovery of an Adaptive Neuroimmune Response Driving Itch and Fast Tick Removal with Implications for Preventing Pathogen Transmission

Advanced Science, EarlyView.
Doehl et al. discovered an adaptive neuroimmune mechanism that induces itch in tick‐exposed guinea pigs, enabling rapid tick removal. This itch‐induced tick removal (IITR) is mediated by an adaptive cellular immune response and is independent of IgG, IgE, or TRPV1.
Johannes S. P. Doehl, Tiago D. Serafim, Serena Doh, Charles S. Grugan, Eva Iniguez, Luana Rogerio, Ronja Frigard, Ranadhir Dey, Pedro Cecilio, Xinglong Gu, Pang‐Yen Tseng, Aline da Silva Moreira, Mahnaz Minai, James Oristian, Hans Ackerman, Steven Brooks, Caroline Percopo, Siu‐Ping Ng, Derron A. Alves, Lucas Tirloni, Jennifer M. Anderson, Adriana Marques, Fabiano Oliveira, Shaden Kamhawi, Daniel E. Sonenshine, José M. C. Ribeiro, Mark Hoon, Jesus G. Valenzuela   +27 more
wiley   +1 more source