Results 101 to 110 of about 4,947 (206)

Differentiation of human embryonic stem cells and human induced pluripotent stem cells into steroid-producing cells. [PDF]

, 2012
Although there have been reports of the differentiation of mesenchymal stem cells and mouse embryonic stem (ES) cells into steroid-producing cells, the differentiation of human ES/induced pluripotent stem (iPS) cells into steroid-producing cells has not ...
Honda, Kyoko, Inuzuka, Megumi, Kanamoto, Naotetsu, Kojima, Katsutoshi, Nakao, Kazuwa, Sone, Masakatsu, Sonoyama, Takuhiro, Tamura, Naohisa, Taura, Daisuke   +8 more
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A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia

Ожирение и метаболизм
Multiple endocrine neoplasia type 1 (MEN1) and congenital adrenal hyperplasia (CAH) are rare monogenic hereditary endocrinopathies with a prevalence of 1–9 cases per 100,000 and 9–15 cases per 100,000, respectively.
A. S. Bondarenko, E. O. Mamedova, Zh. E. Belaya, G. A. Melnichenko   +3 more
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Corrigendum: A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia. (Obesity and metabolism. 2024;21(1):79-84. doi: https://doi.org/10.14341/omet13015)

Ожирение и метаболизм
A corrigendum on "A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal ­Hyperplasia" by Axenia S. Bondarenko, Elizaveta O. Mamedova, Zhanna E. Belaya, Galina A. Melnichenko (2024). Obesity and metabolism. 2024;21(1)
A. S. Bondarenko, E. O. Mamedova, Zh. E. Belaya, G. A. Melnichenko   +3 more
doaj   +1 more source

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods

Journal of Biomedical Science, 2009
Background Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and ...
Varma R Raveendra, Saravanan Chinnaraj, Anwaruddin Mohammad, Idicula-Thomas Susan, Dubey Sudhisha, Maitra Anurupa   +5 more
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Growth Patterns in the First Three Years of Life in Children with Classical Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening and Treated with Low Doses of Hydrocortisone [PDF]

, 2011
Background: Linear growth is the best clinical parameter for monitoring metabolic control in classical congenital adrenal hyperplasia (CAH). Objective: To analyze growth patterns in children with CAH diagnosed by newborn screening and treated with ...
Bonfig, W., Schmidt, H., Schwarz, H. P.
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CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS

Biomedicines
Aims: Pathogenic variants in the CYP21A2 gene are related to the classic and non-classic forms of congenital adrenal hyperplasia (CAH). However, the role of CAH carrier status in the clinical presentation of polycystic ovarian syndrome (PCOS) is still ...
Ralitsa Robeva, Silvia Andonova, Tihomir Todorov, Aylin Feyzullova, Atanaska Elenkova, Georgi Kirilov, Alexey Savov, Sabina Zacharieva, Albena Todorova   +8 more
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Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients

Data in Brief, 2018
This article presents the data set regarding the functional characterization of mutations in CYP21A2 gene in CAH patients as described in “Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital ...
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad   +3 more
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Disorders of sex development: challenges for the future [PDF]

, 2012
No abstract ...
Ahmed, Ahmed, Ahmed, Bashamboo, Camats, Ferraz-de-Souza, Hughes, Idkowiak, Kyriakie Sarafoglou, Ledig, Pasterski, Pearlman, S. Faisal Ahmed, Sarafoglou, Sarafoglou   +14 more
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Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines

Molecular Genetics and Metabolism Reports, 2014
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 in 15,000 births in the United States. CAH is one of the disorders included on the Newborn Screening (NBS) Recommended Uniform Screening Panel.
Christopher N. Greene, Suzanne K. Cordovado, Daniel P. Turner, Lisa M. Keong, Dorothy Shulman, Patricia W. Mueller   +5 more
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TSPO: kaleidoscopic 18-kDa amid biochemical pharmacology, control and targeting of mitochondria [PDF]

, 2016
The 18-kDa translocator protein (TSPO) localizes in the outer mitochondrial membrane (OMM) of cells and is readily up-regulated under various pathological conditions such as cancer, inflammation, mechanical lesions and neurological diseases. Able to bind
Aghazadeh, Aghazadeh, Alho, Amitani, Anholt, Anholt, Anholt, Anholt, Antkiewicz-Michaluk, Arbo, Banati, Banati, Bar-Ami, Barron, Basile, Batarseh, Batarseh, Batarseh, Batarseh, Batra, Beinlich, Benavides, Bernassau, Besman, Bird, Bitran, Bose, Boujrad, Boujrad, Braestrup, Bribes, Bribes, Brunette, Cagnin, Campanella, Campioli, Casellas, Chauveau, Chen, Chen, Cho, Clark, Colasanti, Corcia, Costa, Costa, Costa, Cuhlmann, Daugherty, De Souza, Decaudin, Decker, Delavoie, Delerive, Doperalski, Enders, Epstein, Fafalios, Fan, Fan, Fan, Fur, Fur, Galiegue, Gastaldello, Gatliff, Gatliff, Gavish, Gavish, Gazouli, Gehlert, Gerhard, Gervois, Giatti, Giatzakis, Giatzakis, Golani, Gonzalez-Polo, Guillon, Gulyas, Guo, Guo, Gut, Hardwick, Hardwick, Hauet, Hauet, Jamin, Jaremko, Jaremko, Jemma Gatliff, Joo, Joseph-Liauzun, Karlstetter, Kita, Kondo, Konigsrainer, Korkhov, Kreisl, Kruczek, Kumar, Lacapere, Lacapere, Lavisse, Li, Li, Li, Li, Li, Li, Libby, Liu, Liu, Maia, Maury, Mazurika, McEnery, Miao, Michelangelo Campanella, Midzak, Midzak, Miettinen, Miller, Mills, Mizrahi, Morohaku, Murail, Nagler, Obame, Oberto, Olson, Ostuni, Ouchi, Owen, Owen, Owen, Papadopoulos, Papadopoulos, Papadopoulos, Papadopoulos, Papadopoulos, Papadopoulos, Papadopoulos, Paradis, Pastorino, Pelechano, Petrescu, Poynter, Raghavan, Rey, Romeo, Rone, Rosenberg, Rosenberg, Rosenberg, Rupprecht, Rupprecht, Scarf, Schaller, Selvaraj, Shoukrun, Sileikyte, Soustiel, Sutter, Tang, Taylor, Teboul, Thompson, Trincavelli, Tu, Tu, Tu, Vanhee, Varrone, Vega, Verma, Wang, Wang, Wei, Whalin, Xiao, Yang, Yang, Yasuno, Yeliseev, Yoder, Zhang, Zhang, Zhao, Zhou   +189 more
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