Results 171 to 180 of about 4,066 (184)

Genetic Disruption of cyp21a2 Leads to Systemic Glucocorticoid Deficiency and Tissues Hyperplasia in the Teleost Fish Medaka (Oryzias latipes)

Zoological Science
cytochrome P-450, 21-hydroxylase (cyp21a2), encodes an enzyme required for cortisol biosynthesis, and its mutations are the major genetic cause of congenital adrenal hyperplasia (CAH) in humans.
José Carranza, Kazuki Yamada, Yuta Sakae, Jongsung Noh, M. Choi, Minoru Tanaka   +5 more
semanticscholar   +1 more source

Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.

Clinica chimica acta; international journal of clinical chemistry, 2023
Huijun Li, Xiang-yu Zhu, Ying Yang, Wan-jun Wang, Aiping Mao, Jiaqi Li, Shilai Bao, Jie Li   +7 more
semanticscholar   +1 more source

Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency

Journal of Endocrinological Investigation, 2023
X. Zhang, Y. Gao, L. Lu, Y. Cao, W. Zhang, B. Sun, X. Wu, A. Tong, S. Chen, X. Wang, J. Mao, M. Nie   +11 more
semanticscholar   +1 more source

Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study

Journal of Endocrinological Investigation, 2023
S. Polat, S. Karaburgu, K. Unluhizarci, M. Dundar, Y. Ozkul, Y. Arslan, Z. Karaca, F. Keleştimur   +7 more
semanticscholar   +1 more source

Transcript Patterns of Bovine CYP21A2 and Its Pseudogene in Adrenal and Ovarian Tissues

Genes
Background: The cytochrome P450 family 21 subfamily A member 2 gene (CYP21A2) encodes 21-hydroxylase, a key enzyme in adrenal steroid biosynthesis.
Jakub Wozniak, M. Stachowiak, M. Switonski, J. Nowacka-Woszuk   +3 more
semanticscholar   +1 more source

CYP21A2 and CYP11B1 gene analyses in a virilized newborn female with congenital adrenal hyperplasia.

Medicina clínica (Ed. impresa), 2023
E. Llorente Martín, María Jesús Dabad Moreno, Begoña Ezquieta Zubicaray   +2 more
semanticscholar   +1 more source

CYP21A2-R484Q mice, a humanized mutant animal model for congenital adrenal hyperplasia

Endocrine Abstracts, 2023
Thirumalasetty Shamini Ramkumar, Tina Schubert, R. Naumann, I. Reichardt, M. Rohm, D. Landgraf, F. Gembardt, M. Peitzsch, M. Hartmann, M. Sarov, S. Wudy, Nicole Reisch, A. Huebner, K. Koehler   +13 more
semanticscholar   +1 more source

Carriers of a pathological variant in CYP21A2 gene- clinical and hormonal status

Endocrine Abstracts, 2023
S. Schipor, C. Procopiuc, C. Stancu, M. Vintila, A. Brehar, A. Muresan, D. Manda, A. Caragheorgheopol, Dumitrica Alina Elena, L. Udrea, S. Vladoiu, I. Gherlan   +11 more
semanticscholar   +1 more source

High carrier frequency of CYP21A2 gene mutations in Southern India – underscoring the need for genetic testing in Congenital Adrenal Hyperplasia

Endocrine
L. Ravichandran, Shriti Paul, R. A., Asha Hs, S. Mathai, Anna Simon, S. Danda, Nihal Thomas, A. Chapla   +8 more
semanticscholar   +1 more source