Steroid 11β-hydroxylase deficiency and related disorders
PC White - Genetic Steroid Disorders, 2023 - Elsevier
Humans have two isozymes with 11β-hydroxylase activity that are respectively required for
cortisol and aldosterone synthesis. CYP11B1 (11β-hydroxylase) converts 11-deoxycortisol …
cortisol and aldosterone synthesis. CYP11B1 (11β-hydroxylase) converts 11-deoxycortisol …
46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: genetic, biochemical, and clinical features
F Baronio, R Ortolano, S Menabò, A Cassio… - International journal of …, 2019 - mdpi.com
The term 'differences of sex development'(DSD) refers to a group of congenital conditions
that are associated with atypical development of chromosomal, gonadal, or anatomical sex …
that are associated with atypical development of chromosomal, gonadal, or anatomical sex …
CDHR1 mutations in retinal dystrophies
K Stingl, AK Mayer, P Llavona, L Mulahasanovic… - Scientific reports, 2017 - nature.com
We report ophthalmic and genetic findings in patients with autosomal recessive retinitis
pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential …
pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential …
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 …
Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11BOHD) is a
rare autosomal recessive disorder and the second most common form of CAH. Aim To …
rare autosomal recessive disorder and the second most common form of CAH. Aim To …
Identification and functional characterization of compound heterozygous CYP11B1 gene mutations
H Liu, F Liu, Z Wei, P Liu, Q Liu, L Chen, X Hou - Endocrine, 2024 - Springer
Abstract Purpose 11β-Hydroxylase deficiency (11β-OHD) is the second leading cause of
congenital adrenal hyperplasia (CAH), a rare autosomal recessive disease caused by …
congenital adrenal hyperplasia (CAH), a rare autosomal recessive disease caused by …
The molecular basis and genotype–phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population
Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder due to
presence of mutations in the genes involved in the metabolism of steroid hormones in …
presence of mutations in the genes involved in the metabolism of steroid hormones in …
Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with …
C Wei, Z Zhang, M Sang, H Dai, T Yang… - The Journal of Steroid …, 2021 - Elsevier
Abstract Steroid 11β-hydroxylase deficiency (11β− OHD), which is caused by mutations of
the CYP11B1 gene, is the second leading cause of congenital adrenal hyperplasia (CAH) …
the CYP11B1 gene, is the second leading cause of congenital adrenal hyperplasia (CAH) …
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency—compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations
C Gu, H Tan, J Yang, Y Lu, Y Ma - Gene, 2017 - Elsevier
Abstract 11β-hydroxylase deficiency (11β-OHD) occurs in about 5–8% of congenital adrenal
hyperplasia (CAH). In this study, we identified three CYP11B1 (encoding Cytochrome P450 …
hyperplasia (CAH). In this study, we identified three CYP11B1 (encoding Cytochrome P450 …
A Genetic Variant of ASCT2 Hampers In Vitro RNA Splicing and Correlates with Human Longevity
Given the role of amino acid regulation for physiological and pathological cell proliferation,
we investigated whether the variability of solute carrier family 1, member 5 (SLC1A5, namely …
we investigated whether the variability of solute carrier family 1, member 5 (SLC1A5, namely …