Results 1 to 10 of about 2,714 (169)

CYP21A2 gene mutationsin the women with recurrent miscarriage

Journal of obstetrics and women's diseases, 2012
Miscarriage is one of the major problems of modern reproduction. Total frequency of micarrieges is estimated as 15–27 % of total pregnancies. Recurrent Miscarriage (RM) (three or more spontaneous abortions) is responsible for almost 20 % of total miscarrieges. The population frequency of RM fluctuates from 2 % to 5 %.
Natalya Sergeevna Osinovskaya, Iskender Yuryevich Sultanov, Tatyana Eduardovna Ivaschenko, Vladislav Sergeevich Baranov   +3 more
openaire   +2 more sources

Transcriptomic and microRNA Profiling Suggest a Candidate RIPPLY1–cfa‐miR‐187 Relationship in Canine Mammary Gland Tumours From Dogs With Confirmed Metastasis

Veterinary and Comparative Oncology, Volume 24, Issue 3, Page 631-642, September 2026.
ABSTRACT Canine mammary gland tumours (MGT) represent a common malignancy in intact female dogs, with a high metastasis rate approaching 50% and a poor prognosis. However, metastasis‐related genes remain largely unelucidated. Accordingly, we aimed to identify differentially expressed mRNAs and miRNAs in primary canine MGT tissues from dogs with or ...
Shaohsu Wang, Masashi Takahashi, Hui‐Wen Chen, Nobuhiro Nozaki, Mohammad Arif, Yutaro Ide, Yoshiyuki Akiyama, Sirazul Islam, Tatsuro Hifumi, Shinji Hirano, Noriaki Miyoshi, Osamu Yamato, Daiki Kato, Takayuki Nakagawa, Naoki Miura   +14 more
wiley   +1 more source

ANALYSIS CYP21A2 GENE MUTATIONS TECHNIQUE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA [PDF]

Biotechnologia Acta, 2014
The technique of CYP21A2 gene mutation analysis, which can be applicable for pre- and postnatal diagnosis of congenital adrenal hyperplasia various types was developed.
Chernushyn S. Yu., Livshits L. A.
doaj   +1 more source

Diagnosis of mutations in the CYP21A2 gene

Endocrine Surgery
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E. S. Podshivalova, E. A. Vetchinkina, T. V. Pogoda, M. V. Utkina   +3 more
openaire   +1 more source

[From gene to disease: adrenogenital syndrome and the CYP21A2 gene]. [PDF]

Nederlands tijdschrift voor geneeskunde, 2007
Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In more than 90% of cases CAH is caused by CYP21 (21-hydroxylase) deficiency leading to impaired cortisol and aldosterone synthesis and an increase in ACTH secretion. This then leads to stimulation of the adrenal gland and overproduction of androgens with virilisation of ...
Claahsen-van der Grinten, H.L., Hoefsloot, L.H.   +1 more
openaire   +2 more sources

Insulin Resistance Emerges Early After Glucocorticoid Treatment in Adult Patients With 21‐Hydroxylase Deficiency

Journal of Diabetes, Volume 18, Issue 8, August 2026.
In adults with 21‐hydroxylase deficiency, ongoing glucocorticoid therapy, especially dexamethasone, was the main risk factor for insulin resistance. New‐onset insulin resistance emerged early, highlighting the need for metabolic monitoring within the first 1–2 years of treatment. ABSTRACT Background Metabolic disorders, particularly insulin resistance (
Chenchen Dong, Wencui Wang, Sichang Zheng, Lingxin Deng, Rulai Han, Weiqing Wang, Guang Ning, Shouyue Sun, Lei Ye   +8 more
wiley   +1 more source

Congenital Adrenal Hyperplasia – A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India

Indian Journal of Endocrinology and Metabolism
Congenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations in the CYP21A2 gene resulting in 21-hydroxylase (21-OH) deficiency (21-OHD).
Lavanya Ravichandran, Hesarghatta S. Asha, Sarah Mathai, Nihal Thomas, Aaron Chapla   +4 more
doaj   +1 more source

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

BMC Medical Genetics, 2018
Background Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2.
Yılmaz Kor, Minjing Zou, Roua A. Al-Rijjal, Dorota Monies, Brian F. Meyer, Yufei Shi   +5 more
doaj   +1 more source

Pregnancy-associated changes of peroxisome proliferator-activated receptor delta (PPARD) and cytochrome P450 family 21 subfamily A member 2 (CYP21A2) expression in the bovine corpus luteum

The Journal of Reproduction and Development, 2020
We investigated gene expression profiles of the corpus luteum (CL) at the time of maternal recognition to evaluate the functional changes of the CL during early pregnancy in cows and help improve reproductive efficiency and avoid defective fetuses ...
Ryosuke SAKUMOTO, Ken-Go HAYASHI, Misa HOSOE, Kosuke IGA, Keiichiro KIZAKI   +4 more
doaj   +1 more source

The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family [PDF]

European Journal of Medical Research, 2019
The simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder usually caused by steroid 21-hydroxylase deficiency due to I172N missense mutation at the CYP21A2 gene. Clinical presentation encompasses virilization of external genitalia in newborn females and pseudoprecocious puberty in both sexes, due to ...
Mirjana Kocova, Violeta Anastasovska, Iskra Bitovska   +2 more
openaire   +3 more sources