Results 31 to 40 of about 4,073 (218)

Novel deletion alleles carrying /chimeric genes in Brazilian patients with 21-hydroxylase deficiency [PDF]

, 2010
Made available in DSpace on 2016-01-24T13:59:48Z (GMT). No. of bitstreams: 0 Previous issue date: 2010-06-29. Added 1 bitstream(s) on 2016-01-31T13:34:36Z : No.
Coeli, Fernanda B., Soardi, Fernanda C., Bernardi, Renan D., Araujo, Marcela de, Paulino, Luciana C., Lau, Ivy F., Petroli, Reginaldo J., Lemos-Marini, Sofia H. V. de, Baptista, Maria T. M., Guerra-Junior, Gil, Mello, Maricilda Palandi de [UNIFESP]   +10 more
core   +3 more sources

Alta freqüência da mutação Q318X em pacientes com hiperplasia adrenal congênita por deficiência da 21-hidroxilase no nordeste do Brasil [PDF]

, 2009
OBJETIVES: Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the ...
AGUIAR-OLIVEIRA, Manuel H., CAMPOS, Viviane C., CASTRO, Margaret de, PEREIRA, Rossana M. C., TORRES, Natália   +4 more
core   +2 more sources

ACTH receptor, CYP11A1, CYP17 and CYP21A2 genes are expressed in skin. [PDF]

The Journal of Clinical Endocrinology & Metabolism, 1996
Evidence is provided that mRNA for ACTH (MC-2) receptor and mRNAs for three obligatory enzymes of steroid synthesis including cytochromes P450scc, P450c17 and P450c21 are expressed in normal and pathologic human skin. Thus, molecular elements of the distal loop of the "pituitary-adrenal axis" such as the MC-2, CYP11A1, CYP17 and CYP21A2 genes are ...
A, Slominski, G, Ermak, M, Mihm
openaire   +3 more sources

Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development

Diagnostics, 2021
Background: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women. Depending on the diagnostic criteria applied, it occurs in up to 16.6% of the general female population. Congenital adrenal hyperplasia includes a group of autosomal
Lasma Lidaka, Laine Bekere, Gunta Lazdane, Iveta Dzivite-Krisane, Anda Kivite-Urtane, Linda Gailite   +5 more
doaj   +1 more source

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children [PDF]

Journal of Clinical Research in Pediatric Endocrinology, 2011
Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene.Our aim was to determine the frequency of common gene mutations and to evaluate genotype-phenotype correlations in Turkish 21-OHD patients.Molecular analysis of the CYP21A2 gene was performed ...
Baş, Firdevs, Kayserili, Hülya, Darendeliler, Feyza, Uyguner, Oya, Günöz, Hülya, Yüksel Apak, Memnune, Atalar, Fatmahan, Bundak, Rüveyde, Wilson, Robert C., New, Maria I., Wollnik, Bernd, Saka, Nurçin   +11 more
openaire   +3 more sources

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children. [PDF]

, 2015
Adrenal insufficiency is a rare, but potentially fatal medical condition. In children, the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that ...
al Kandari, Altmann, Arlt, Ben Charfeddine, Chan, Charmandari, Choi, Clark, Clark, Committee on Bioethics, Committee on Genetics, The American College of Medical Genetics and, Genomics Social, Ethical, Legal Issues Committee, Cooper, El-Khairi, Fang, Fromer, Gilissen, Helmberg, Hiort, Hughes, Hughes, Husebye, Jarvik, Joehrer, Lam, Lambert, Lee, Li, Lin, Meimaridou, Meimaridou, Merce Fernandez-Balsells, Metherell, Meynert, Miki, Miller, Mui, Ng, Ng, Ng, Novoselova, O’Rawe, Penhoat, Perry, Prasad, Rios, Robertson, Speiser, Sulonen, Tee, Thusberg, Wang, Wang   +50 more
core   +4 more sources

Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review

Sexes, 2023
Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is caused by pathogenetic variants in CYP21A2 gene, impairing the function of 21 ...
Giulia Bertolucci, Nina Tyutyusheva, Margherita Sepich, Fulvia Baldinotti, Maria Adelaide Caligo, Maria Rita Sessa, Diego Giampiero Peroni, Silvano Bertelloni   +7 more
doaj   +1 more source

Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia [PDF]

Enzyme Research, 2016
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients.
Ruqayah G. Y. Al-Obaidi, Bassam M. S. Al-Musawi, Munib Ahmed K. Al-Zubaidi, Christian Oberkanins, Stefan Németh, Yusra G. Y. Al-Obaidi   +5 more
openaire   +2 more sources

Marked cortisol production by intracrine ACTH in GIP-treated cultured adrenal cells in which the GIP receptor was exogenously introduced. [PDF]

PLoS ONE, 2014
The ectopic expression of the glucose-dependent insulinotropic polypeptide receptor (GIPR) in the human adrenal gland causes significant hypercortisolemia after ingestion of each meal and leads to Cushing's syndrome, implying that human GIPR activation ...
Hiroko Fujii, Mimi Tamamori-Adachi, Kousuke Uchida, Takao Susa, Takashi Nakakura, Haruo Hagiwara, Masayoshi Iizuka, Hiroko Okinaga, Yuji Tanaka, Tomoki Okazaki   +9 more
doaj   +1 more source

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

Frontiers in Endocrinology, 2022
Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases.
María Arriba, María Arriba, Begoña Ezquieta, Begoña Ezquieta   +3 more
doaj   +1 more source