Results 91 to 100 of about 19,718 (218)

Biochemical and Physiological Effects of Galanin in Health and Disease

The FASEB Journal, Volume 40, Issue 2, 31 January 2026.
Galanin is a biologically active neuropeptide hormone that mediates its effects through three galanin receptors. Galanin signaling induces changes in glucose homeostasis amongst others and plays a dynamic role in the physiological health of many organ systems.
Patrick Mireles, Yubo Wang, Kathryn Rhodes, Sharon DeMorrow   +3 more
wiley   +1 more source

Adrenogenital syndrome: molecular mechanisms of development

Mìžnarodnij Endokrinologìčnij Žurnal, 2017
On the long multistage pathway of biosynthesis of steroid hormones from cholesterol to cortisol, testo­sterone and estradiol, due to mutations in genes, there is the deficiency of steroidogenesis enzymes in the adrenal glands: cholesterol desmolase, 3β ...
V.P. Pishak, M.O. Ryznychuk
doaj   +1 more source

Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/CYP11B1 Gene

JCRPE
In terms of prevalence, 11β-hydroxylase deficiency (11β-OHD), a common form of congenital adrenal hyperplasia, closely follows 21-hydroxylase deficiency.
Wenjuan Cai, Dan Yu, Jian Gao, Qian Deng, Huihui Lin, Yuqing Chen   +5 more
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
Background Steroid 21‐hydroxylase deficiency (21OHD) is the most common enzymatic defect, but the genotype–phenotype associations have not been well established in Chinese patients.
Chao Xu, Wenyu Jia, Xiangdeng Cheng, Hui Ying, Jing Chen, Jin Xu, Qingbo Guan, Xinli Zhou, Dongmei Zheng, Guimei Li, Jiajun Zhao   +10 more
doaj   +1 more source

Assisted Reproduction in Congenital Adrenal Hyperplasia

Frontiers in Endocrinology, 2019
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects of adrenal steroidogenesis due to mutations in one of the following enzymes: 21-hydroxylase (21OH), 11β-hydroxylase (11βOH), 17α-hydroxylase (17OH ...
Anastasios Chatziaggelou, Evangelos G. Sakkas, Raffaella Votino, Maria Papagianni, George Mastorakos   +4 more
doaj   +1 more source

Cytochrome P450 Oxidoreductase Deficiency in Three Patients Initially Regarded as Having 21-Hydroxylase Deficiency and/or Aromatase Deficiency: Diagnostic Value of Urine Steroid Hormone Analysis [PDF]

, 2006
Maki Fukami, Tomonobu Hasegawa, Reiko Horikawa, Toya Ohashi, Gen Nishimura, Keiko Homma, Tsutomu Ogata   +6 more
openalex   +1 more source

Synergistic Effect of Partially Inactivating Mutations in Steroid 21-Hydroxylase Deficiency¹ [PDF]

, 1997
Andrej Nikoshkov, Svetlana Lajić, Mikael Holst, Anna Wedell, Holger Luthman   +4 more
openalex   +1 more source

An Overview of Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency [PDF]

, 2001
Catherine E. Keegan, Anthony A. Killeen
openalex   +1 more source

Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. [PDF]

, 1987
Nanda R. Rodrigues, Ian Dunham, C. Yung Yu, Michael C. Carroll, Roy Porter, R. Duncan Campbell   +5 more
openalex   +1 more source

Steroid metabolites producing adenoma: a case report

Ожирение и метаболизм
Hyperandrogenism is the most prevalent cause of menstrual cycle abnormalities and infertility in women. Here, we present a case of a 32-year-old woman with a 7-year history of menstrual irregularity and infertility.
K. V. Ivashchenko, K. A. Komshilova, N. V. Molashenko, A. A. Lavreniuk, A. M. Lapshina, I. V. Kim, V. A. Ioutsi, M. A. Antsupova, M. V. Utkina, N. M. Platonova, E. A. Troshina, N. G. Mokrysheva   +11 more
doaj   +1 more source