[PDF][PDF] Nghiên cứu các dạng đột biến gen gây bệnh tăng sản thượng thận bẩm sinh thiếu 21-hydroxylase

CD Vũ - 2017 - lib.yhn.edu.vn
LỜI CAM ĐOAN Page 1 LỜI CAM ĐOAN Tôi là Vũ Chí Dũng, nghiên cứu sinh khóa 29
Trường Đại học Y Hà Nội, chuyên ngành Nhi, xin cam đoan: 1. Đây là luận án do bản thân …

A novel function of CYP21A2 in regulating cell migration and invasion via Wnt signaling.

Y Guo, A Rehati, Z Wu, W Zhang… - General Physiology …, 2020 - search.ebscohost.com
CYP21A2, which is responsible for 21-hydroxylase activity, is prominent to the development
of congenital adrenal hyperplasia (CAH). The aim of our current study is to investigate the …

Nouveautés dans l'hyperplasie congénitale des surrénales: New insights in congenital adrenal hyperplasia

L Dumeige, C Bouvattier, M Lombès - Annales d'Endocrinologie, 2017 - Elsevier
Congenital adrenal hyperplasia is an autosomal recessive disease due to functional
abnormalities of adrenal steroid enzymes. The most common form of the disease is due to a …

Evolution of genes involved in the unusual genitals of the bear macaque, Macaca arctoides

LS Stevison, NP Bailey, ZA Szpiech… - Ecology and …, 2022 - Wiley Online Library
Genital divergence is thought to contribute to reproductive barriers by establishing a “lock‐
and‐key" mechanism for reproductive compatibility. One such example, Macaca arctoides …

Diagnostic Challenges in Nonclassical Congenital Adrenal Hyperplasia

HF Escobar-Morreale, M Luque-Ramírez - Fertility and Reproductive …, 2021 - Springer
Nonclassical congenital adrenal hyperplasia (NCAH) is a relatively common autosomal
recessive disorder that arises from mutations in the genes encoding 21-hydroxylase …

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

M Soveizi, N Mahdieh, A Setoodeh… - International Journal …, 2020 - Wiley Online Library
Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The
PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC‐CAH). In this …

Врожденная дисфункция коры надпочечников: поиск мутаций в гене CYP21A2

АА Рахимкулова, ВЛ Ахметова… - Вестник …, 2013 - cyberleninka.ru
Мутации в гене CYP21A2, кодирующем фермент 21-гидроксилаза, являются причиной
развития одного из наиболее распространенных наследственных заболеваний …

An examination of the genetic diversity of the major histocompatibility complex in commercial and domestic chicken breeds

C Darrington - 2023 - escholarship.mcgill.ca
The major histocompatibility complex (MHC) is a group of highly polymorphic, closely linked
genes found in the genome of all jawed vertebrates. Genes in this region are involved in …

The history of prenatal diagnosis of congenital adrenal hyperplasia

MI New, D Lo - Genetic Steroid Disorders, 2023 - Elsevier
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21OHD) is a
disorder of adrenal steroidogenesis, which causes virilization of external genitalia in females …

[HTML][HTML] Compound heterozygosity for a whole gene deletion and p. R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia

H Nasir, SI Ali, N Haque, SK Grebe… - Annals of Pediatric …, 2018 - ncbi.nlm.nih.gov
We present a family with 2 members who received long-term steroid treatment for presumed
classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until …