Results 281 to 290 of about 2,389,640 (367)

High Frequency of Cytolytic 21-Hydroxylase–Specific CD8+ T Cells in Autoimmune Addison’s Disease Patients

Journal of Immunology, 2014
Amina Dawoodji, Ji-Li Chen, D. Shepherd, Frida Dalin, A. Tarlton, M. Alimohammadi, M. Penna-Martinez, G. Meyer, A. Mitchell, E. Gan, E. Bratland, S. Bensing, E. Husebye, S. Pearce, K. Badenhoop, O. Kämpe, V. Cerundolo   +16 more
semanticscholar   +1 more source

The CRISPR‐Cas9 knockout DDC SH‐SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross‐sectional structural and functional analysis

The FEBS Journal, EarlyView.
Here, we generated a DDC‐KO cellular model for studying aromatic amino acid decarboxylase (AADC) deficiency. This model was created using CRISPR‐Cas9 in the SH‐SY5Y neuroblastoma cell line and was validated through the absence of the dopamine product and an altered l‐dopa metabolite profile.
Cristian Andres Carmona‐Carmona, Giovanni Bisello, Rossella Franchini, Gianluigi Lunardi, Roberta Galavotti, Massimiliano Perduca, Rui P. Ribeiro, Benny Danilo Belviso, Alejandro Giorgetti, Rocco Caliandro, Patricia M.‐J. Lievens, Mariarita Bertoldi   +11 more
wiley   +1 more source

Future Directions in the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Sarafoglou K, Auchus RJ.
europepmc   +1 more source

Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome. [PDF]

J Transl Med
Li S, Hua R, Han X, Xu Y, Li M, Gao L, Ma R, Meng W, Mao A, Wang J, Wang Y.   +10 more
europepmc   +1 more source

DSD1/ZmICEb regulates stomatal development and drought tolerance in maize

Journal of Integrative Plant Biology, EarlyView.
DECREASED STOMATAL DENSITY 1/INDUCER OF CBF EXPRESSION b regulates maize stomatal development and drought tolerance, providing a promising target for the genetic improvement of drought tolerance in maize by manipulating stomatal density. ABSTRACT Maize (Zea mays L.) growth and yield are severely limited by drought stress worldwide. Stomata play crucial
Wenqi Zhou, Jun Yin, Yuqian Zhou, Yongsheng Li, Haijun He, Yanzhong Yang, Xiaojuan Wang, Xiaorong Lian, Xiaoyun Dong, Zengke Ma, Liang Chen, Suiwen Hou   +11 more
wiley   +1 more source

Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India. [PDF]

Indian J Endocrinol Metab
Ravichandran L, Asha HS, Mathai S, Thomas N, Chapla A.   +4 more
europepmc   +1 more source

Life With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Challenges and Burdens.

J Clin Endocrinol Metab
Witchel SF, Miller T, McCann E, Gupta A.
europepmc   +1 more source

Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. [PDF]

Endocrine
Chiarito M, Lattanzio C, D'Ascanio V, Capalbo D, Cavarzere P, Grandone A, Aiello F, Pepe G, Wasniewska M, Zoller T, Salerno M, Faienza MF.   +11 more
europepmc   +1 more source

Mind the GAPS: Glia associated with psychological stress

Journal of Neuroendocrinology, EarlyView.
Abstract Glial cells are an integral component of the nervous system, performing crucial functions that extend beyond structural support, including modulation of the immune system, tissue repair, and maintaining tissue homeostasis. Recent studies have highlighted the importance of glial cells as key mediators of stress responses across different organs.
Niklas Blank, Molly Weiner, Shaan Patel, Sarah Köhler, Christoph A. Thaiss   +4 more
wiley   +1 more source

Endocrinology and Women’s Sports: The Diagnosis Matters [PDF]

, 2017
Auchus, Richard J.
core   +1 more source