Gene hydroxysteroid dehydrogenases. Medical search. Frequent questions

3-Beta-hydroxysteroid dehydrogenase (3BHSD) deficiency is a rare form of congenital adrenal hyperplasia that results in decreased production of all three groups of adrenal steroids: mineralocorticoids, glucocorticoids, and sex steroids. (medscape.com)
Although first described in male infants with ambiguous genitalia and severe salt wasting, 3-beta-hydroxysteroid dehydrogenase deficiency also occurs in 46,XX female infants (who may have mild clitoromegaly), as well as in older patients who present with a milder or so-called late-onset variant. (medscape.com)
This condition is due to defects in type II 3-beta-hydroxysteroid dehydrogenase, an enzyme that occurs almost exclusively in the gonads and adrenal glands. (medscape.com)
A variety of mutations in the HSD3B2 gene affect the activity of this enzyme, resulting in the extremely variable, phenotypic presentations of 3-beta-hydroxysteroid dehydrogenase deficiency. (medscape.com)
Older patients with mild defects in 3-beta-hydroxysteroid dehydrogenase activity (late-onset or nonclassic variant) may present with premature pubic hair development, hirsutism, irregular menstrual cycles or primary amenorrhea. (medscape.com)
A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms including glucocorticoid and mineralocorticoid deficiencies in both sexes. (globalgenes.org)
12. Bertelloni S, Dati E, Hiort O. Diagnosis of 17 beta-hydroxysteroid dehydrogenase deficiency. (degruyter.com)
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (degruyter.com)
The invention relates to "compounds, compositions, and methods for the study, diagnosis, and treatment of traits, diseases and conditions that respond to the modulation of 11 beta-hydroxysteroid dehydrogenase-1 gene expression and/or activity," the patent application's abstract states. (genomeweb.com)
The invention "is also directed to compounds, compositions, and methods relating to traits, diseases and conditions that respond to the modulation of expression and/or activity of genes involved in 11 beta-hydroxysteroid dehydrogenase-1 gene expression pathways or other cellular processes that mediate the maintenance or development of such traits, diseases, and conditions. (genomeweb.com)
Specifically, the invention relates to double stranded nucleic acid molecules … capable of mediating RNA interference against 11 beta-hydroxysteroid dehydrogenase-1 gene expression, including cocktails of such small nucleic acid molecules and lipid nanoparticle (LNP) formulations of such small nucleic acid molecules. (genomeweb.com)
What does 11 beta hydroxysteroid dehydrogenase do? (richardvigilantebooks.com)
The enzyme 11-beta-hydroxysteroid dehydrogenase (EC 1.1. (richardvigilantebooks.com)
What does 17 beta hydroxysteroid dehydrogenase do? (richardvigilantebooks.com)
17 beta-Hydroxysteroid dehydrogenase (17 beta-HSD) controls the last step in the formation of all androgens and all estrogens. (richardvigilantebooks.com)
Licorice influences cortisol production by inhibiting the enzyme 11-beta-hydroxysteroid dehydrogenase. (richardvigilantebooks.com)
The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. (richardvigilantebooks.com)
How does 17-beta hydroxysteroid dehydrogenase 3 affect male sexual development? (richardvigilantebooks.com)
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. (richardvigilantebooks.com)
Several homozygous mutations in the gene after 11 beta-hydroxysteroid dehydrogenase prototype 2 in pertinaciouss with apparent mineralocorticoid excess. (ika.ie)
Evidence supports that 17-beta hydroxysteroid dehydrogenase 13 (HSD17B13) rs72613567 plays a role in NAFLD development by affecting lipid homeostasis. (lu.se)
An 8-kilobase (kb) gene, HSD3B2 , located on the p11-13 region of chromosome 1 encodes 3-beta-hydroxysteroid dehydrogenase. (medscape.com)
[ 3 ] Two isoenzymes of 3-beta-hydroxysteroid dehydrogenase have been described, differing by only 23 amino acids. (medscape.com)
Type I 3-beta-hydroxysteroid dehydrogenase isoenzyme occurs in the peripheral tissues, primarily the liver. (medscape.com)

The autosomal recessive deficiency arises are a result of homozygous or compound heterozygous mutations in HSD17B3 gene which encodes the 17β-hydroxysteroid dehydrogenase III enzyme, impairing of the conversion of 17-keto into 17-hydroxysteroids. (wikipedia.org)
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. (cancerindex.org)
The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. (nih.gov)
The HSD11B2 gene (OMIM 614232) encodes the isoenzyme that is expressed in the kidney and which plays a particularly important role in blood pressure regulation. (richardvigilantebooks.com)
The prostaglandin-endoperoxide synthase 2 gene (PTGS2), which encodes cyclooxygenase-2, was found to upregulate the expression of TGF-β2 ( 14 ). (spandidos-publications.com)
The nuclear receptor subfamily 5, Group A, Member 1 (NR5A1) gene encodes steroidogenic factor 1 (SF1), which is necessary for development of steroid hormone-producing tissues including the gonad and adrenal gland. (bvsalud.org)

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (medscape.com)

Expression profiling of 11beta-hydroxysteroid dehydrogenase type-1 and glucocorticoid-target genes in subcutaneous and omental human preadipocytes. (ox.ac.uk)
Agarwal, AK 2001, ' Transcriptional influence of two poly purine-pyrimidine tracts located in the HSD11B2 (11beta-hydroxysteroid dehydrogenase type 2) gene ', Endocrine Research , vol. 27, no. 1-2, pp. 1-9. (elsevierpure.com)
Anti-inflammatory effect of a selective 11beta-hydroxysteroid dehydrogenase type 1 inhibitor via the stimulation of heme oxygenase-1 in LPS-activated mice and J774.1 murine macrophages. (ac.ir)
5. Itoi S, Terao M, Murota H, Katayama I. 11beta-Hydroxysteroid dehydrogenase 1 contributes to the pro-inflammatory response of keratinocytes. (ac.ir)
Anti-inflammatory effects of levalbuterol-induced 11beta-hydroxysteroid dehydrogenase type 1 activity in airway epithelial cells. (ac.ir)
Carbenoxolone prevents chemical eye ischemia-reperfusion-induced cell death via 11beta-hydroxysteroid dehydrogenase type 1 inhibition. (ac.ir)
11. Chapman KE, Coutinho AE, Zhang Z, Kipari T, Savill JS, Seckl JR. Changing glucocorticoid action: 11beta-hydroxysteroid dehydrogenase type 1 in acute and chronic inflammation. (ac.ir)

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and steroid dehydrogenase activity. (nih.gov)
CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation. (medscape.com)
CHILD syndrome is inherited in an X-linked dominant fashion and involves a mutation in the NSDHL (NAD[P]H steroid dehydrogenase-like protein) gene. (medscape.com)
Hydroxysteroid dehydrogenases (HSDs) or oxidoreductases catalyze the interconversion of alcohol and carbonyl functions in a position- and stereospecific manner on the steroid nucleus and side chain, using oxidized (+) or reduced (H) nicotinamide adenine dinucleotide, NAD(H), or NADP(H) as cofactors. (richardvigilantebooks.com)
11β-Hydroxysteroid dehydrogenase (HSD-11β or 11β-HSD) enzymes catalyze the conversion of inert 11 keto-products (cortisone) to active cortisol, or vice versa, thus regulating the access of glucocorticoids to the steroid receptors. (richardvigilantebooks.com)
Hydroxysteroid (17β) dehydrogenases (HSD17Bs) form an enzyme family characterized by their ability to catalyze reactions in steroid and lipid metabolism. (richardvigilantebooks.com)
Increased amounts of progesterone and estradiol and reduced androstenedione levels were observed at D30, together with decreased transcript levels of steroid metabolizing genes and steroid target genes. (elifesciences.org)
Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls. (nel.edu)
Xin I, Xiao U, Luan I, Zhou U, Lu A, Wei O, Yang H, Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls. (nel.edu)
AKRs are tissue-specific hydroxysteroid dehydrogenases that interconvert weak steroid hormones to their more potent counterparts and regulate processes involved in development, homeostasis and reproduction. (biomedcentral.com)
It is a conjugated steroid converted by the sulfation of dehydroepiandrosterone (DHEA) at the 3β position via hydroxysteroid sulfotransferase. (cdc.gov)

The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. (nih.gov)
The 17β-HSD (17β-hydroxysteroid dehydrogenase) from the filamentous fungus Cochliobolus lunatus (17β-HSDcl) is a NADP(H)-dependent enzyme that preferentially catalyses the interconversion of inactive 17-oxo-steroids and their active 17β-hydroxy counterparts. (rcsb.org)
To address the second, we investigated RNAs bound by the metabolic enzyme hydroxysteroid dehydrogenase 17-β 10 (HSD17B10). (nature.com)
CHILD syndrome is caused by an X-linked dominant mutation in the NSDHL gene encoding for an enzyme in the cholesterol biosynthetic pathway. (medscape.com)
qPCR showed that the enzyme AKR1C3, rather than HSD17B3, was the major reductive 17β-hydroxysteroid dehydrogenase in PBMCs, responsible for the activation of the 11-oxygenated androgen 11-ketotestosterone and the classic androgen testosterone. (bham.ac.uk)

17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder of sex development (46,XY DSD). (wikipedia.org)

HSD17B13 and other liver fat-modulating genes predict development of hepatocellular carcinoma among HCV-positive cirrhotics with and without viral clearance after DAA treatment. (nih.gov)
Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition. (eurospe.org)

A deficiency in the HSD17B3 gene is characterized biochemically by decreased levels of testosterone which results in the insufficient formation of dihydrotestosterone during fetal development. (wikipedia.org)
T/A ratio was 0.26 and the diagnosis was 17βHSD-3 deficiency, which was confirmed by the evidence of compound heterozygousity novel frameshift mutations in exon 9 and 10 of HSD17B3 gene. (degruyter.com)

In the human, an aldo-keto reductase (AKR) gene family (AKR1C) has been identified near the telomere on chromosome 10p15 that contains at least six aldo-keto reductase family 1, member C genes [ 11 ]. (biomedcentral.com)

In order to investigate whether the variances in the candidate genes (Insulin receptor substrate IRS-1, beta3-adrenergic receptor ADRB3, 3 beta-hydro-xysteroid dehydrogenase HSD3B2, glucocorticoid receptor GRL and 21-hydroxylase CYP21) which affect the metabolism of adrenal steroids hormone and body composition, are associated with precocious puberty in Chinese girls. (nel.edu)
hydroxysteroid dehydrogenase type 1 and the glucocorticoid receptor. (cdc.gov)

Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). (nih.gov)
What does this gene/protein do? (cancerindex.org)
What pathways are this gene/protein implicaed in? (cancerindex.org)
HSD10 disease is caused by mutations in the HSD17B10 gene, which provides instructions for making the HSD10 protein. (medlineplus.gov)
The HSD17B10 gene mutations that cause HSD10 disease reduce the amount of HSD10 protein in cells, impair their structure or function, or both, which leads to a deficiency of the functional complex in which it plays a part. (medlineplus.gov)
Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.com)
Gene and protein expression of reductases were determined using quantitative real-time polymerase chain reaction and Western blotting, respectively. (aspetjournals.org)
Monocyte Chemoattractant Protein-1 in Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis: Biomarker Potential and Association with Polymorphisms in the MCP-1 and the CC Chemokine Receptor-2 Gene. (cdc.gov)

An apparent pseudogene of this gene is present on chromosome 8. (nih.gov)
This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. (cancerindex.org)
In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. (medlineplus.gov)
In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe features of the condition or may cause no signs or symptoms at all. (medlineplus.gov)
Strikingly, introgression of the WKY chromosome 2 region into the SHRSP strain corrected the proteinuria and reduced sodium excretion, plasma aldosterone levels and 3β hydroxysteroid dehydrogenase mRNA gene expression in response to the salt challenge when compared to the SHRSP strain. (nih.gov)
Quantitative trait loci (QTL) for age of puberty, nipple number and ovulation rate have been identified in Meishan crosses on pig chromosome 10q (SSC10) near the telomere, which is homologous to human chromosome 10p15 and contains an aldo-keto reductase (AKR) gene cluster with at least six family members. (biomedcentral.com)
The homologous region on mouse chromosome 13 contains a cluster of eight or nine AKR1C genes [ 12 ]. (biomedcentral.com)

8. Rosler A, Silverstein S, Abeliovich D. A (R80Q) mutation in 17 betahydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. (degruyter.com)
Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. (medscape.com)
Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)

17-β-Hydroxysteroid dehydrogenase type 3 (17βHSD-3) is present almost exclusively in the testes, and converts androstenedione (A) to testosterone (T). 17βHSD-3 deficiency is rare. (degruyter.com)
17p-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17 β HSD3 gene. (degruyter.com)
Herein we report on a 35-year-old man with a rather unusual type of EN. (karger.com)
However, the role of 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), which catalyzes the conversion of inactive cortisone into active cortisol, in inflammation remains unclear. (ac.ir)

Only 60% of yeast and 73% of the human RBPs have functions assigned to RNA biology or structural motifs known to convey RNA binding, and many intensively studied proteins surprisingly emerge as RBPs (termed 'enigmRBPs'), including almost all glycolytic enzymes, pointing to emerging connections between gene regulation and metabolism. (nature.com)
It is caused by deficiency of 11β-hydroxysteroid dehydrogenase, which results in a defect of the peripheral metabolism of cortisol to cortisone. (richardvigilantebooks.com)
As one might expect, in the majority of these studies, the gene expression changes that predominate are those related to macronutrient and, in particular, lipid and fatty acid metabolism (2C4). (healthweeks.com)

Hydroxysteroid dehydrogenases (HSDs) are a group of alcohol oxidoreductases that catalyze the dehydrogenation of hydroxysteroids. (richardvigilantebooks.com)

The SHRSP strain had higher plasma aldosterone in association with greater adrenal CYP11B2 (aldosterone synthase) and 3β hydroxysteroid dehydrogenase mRNA gene expression when compared to the WKY strain. (nih.gov)

Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta 8, Delta 7-isomerase. (medscape.com)
The enzymatic defects causing female virilization involve 3β-hydroxysteroid dehydrogenase Δ5-Δ4 isomerase (3β-HSD), P 450 C21 hydroxylase (21-OH), and P 450 C11 hydroxylase (11-OH). (health.am)

Transcript levels of the androgen receptor (AR)-regulated gene Rhox5 were decreased at the end of the culture period, suggesting that testosterone production by Leydig cells and/or AR transcriptional activity was impaired in organotypic cultures ( 8 ). (elifesciences.org)

7. Chapman K, Holmes M, Seckl J. 11beta-hydroxysteroid dehydrogenases: Intracellular gate-keepers of tissue glucocorticoid action. (ac.ir)

Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. (nih.gov)
Three transcript variants encoding different isoforms have been found for this gene. (cancerindex.org)
Background and aims: Several susceptibility gene variants predisposing to nonalcoholic fatty liver disease (NAFLD) have been identified in chronic kidney disease (CKD). (lu.se)
Clinical outcome in anti-neutrophil cytoplasmic antibody-associated vasculitis and gene variants of 11? (cdc.gov)

In total, 12 steroids were quantified in 50% (v/v) methanol in water by liquid chromatography-tandem mass spectrometry (LC-MS/MS). The expression of genes encoding steroidogenic enzymes was assessed by quantitative PCR (qPCR). (bham.ac.uk)
It upregulated the declined level of serum testosterone and the expression of steroidogenic genes such as CYP11A1 and 17β3-HSD with an obvious histologic improvement of the testes with re-establishment of the normal spermatogenic series, Sertoli and Leydig cells. (biomedcentral.com)

Lou H, Hammond L, Sharma V, Sparkes RS, Lusis AJ, Stolz A: Genomic organization and chromosomal localization of a novel human hepatic dihydrodiol dehydrogenase with high affinity bile acid binding. (drugbank.com)

17β-Hydroxysteroid dehydrogenase III deficiency is caused by mutations found in the 17β-HSD III (17BHSD3) gene.17β-HSD III deficiency is an autosomal recessive disorder. (wikipedia.org)
Male pseudohermaphroditism caused by mutations of testicular 17-β-hydroxysteroid dehydrogenase 3. (degruyter.com)

Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. (degruyter.com)

C/EBPbeta was highly expressed both in SC and in OM preadipocytes, but was not regulated by F. Our results provide insight into the genes involved in the regulation of adipocyte differentiation by cortisol, highlighting the depot specifically in human adipose tissue. (ox.ac.uk)
RNA-binding proteins (RBPs) mediate pivotal cellular functions such as RNA transport, degradation or translation and represent key effectors of post-transcriptional gene regulation. (nature.com)
Ciaccio PJ, Jaiswal AK, Tew KD: Regulation of human dihydrodiol dehydrogenase by Michael acceptor xenobiotics. (drugbank.com)

In addition to SRY, DMRT1 is required in the supporting cells to increase the expression of the SOX9 gene, which heads the testicular genetic cascade. (bvsalud.org)
DMRT1 is a gene that drives the differentiation of gonadal cells into the testicular pathway in several species of animals with backbones, including species of fish, frogs and birds. (bvsalud.org)

PCR-RFLP analysis method was applied in the typing of six activity SNPs in five genes in two groups: 176 precocious puberty girls as case and 192 healthy girls as control. (nel.edu)
Among these six activity SNPs in five candidate genes, IRS-1 972R was statistically associated with the onset time of puberty in Chinese girls. (nel.edu)
In order to confirm whether the candidate genes have any other activity SNPs that are associated with the onset time of puberty in Chinese girls, resequencing of these candidate genes is needed in following time. (nel.edu)
which exhibited low transcriptional activity, especially of genes involved in secondary bile acid biosynthesis and neuroendocrine signaling (i.e., production of neurotransmitters, indoles and ligands for cannabinoid receptors). (biomedcentral.com)

The impaired testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β-HSD III), presents as atypical genitalia in affected males. (wikipedia.org)
In terms of the diagnosis of 17β-hydroxysteroid dehydrogenase III deficiency the following should be taken into account: Increased androstenedione:testosterone ratio Thyroid dyshormonogenesis Genetic testing The 2006 Consensus statement on the management of intersex disorders states that individuals with 17β-hydroxysteroid dehydrogenase III deficiency have an intermediate risk of germ cell malignancy, at 28%, recommending that gonads be monitored. (wikipedia.org)

As a general rule, the chromosomal sex of an embryo, which gets determined at fertilization, leads to the activation and repression of specific genes. (bvsalud.org)

Analyses of the mitochondrial hydroxysteroid dehydrogenase (HSD17B10) uncover the RNA-binding specificity of an enigmRBP. (nature.com)

A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)
X. Cui, Q. Sha, S. Zhang and H.-S. Chen, "A Combinatorial Approach for Detecting Gene-Gene Interaction Using Multiple Traits of Genetic Analysis Workshop 16 Rheumatoid Arthritis Data," BMC Proceedings, Vol. 3, Suppl. (scirp.org)

Comparison of sequence data with the porcine BAC fingerprint map show that the cluster of genes resides in a 300 kb region. (biomedcentral.com)

Detection of mutations in this gene has confirmed the fundamental role of aromatase for the fetal-placental unit and for sexual differentiation of the female fetus. (health.am)
Interestingly, they also suggest the possibility that mutations in this gene may be responsible for some cases of infertility in women. (bvsalud.org)

17β-HSDcl belongs to the SDR (short-chain dehydrogenase/reductase) superfamily. (rcsb.org)

mutations in the HSD11B2 gene explain an inherited form of hypertension, the syndrome of apparent mineralocorticoid excess in which cortisol acts as a potent mineralocorticoid. (richardvigilantebooks.com)

The aim of this study was to identify depot-specific glucocorticoid-target genes in adipocyte precursor cells (preadipocytes) using Affymetrix microarray technique. (ox.ac.uk)
These results are consistent with another study concerning the gene expression profiling of breast CAFs, which were detected using a complementary DNA microarray ( 15 ). (spandidos-publications.com)

Cloning and sequencing of the CYP19 aromatase gene has provided new opportunities for identifying mutations. (health.am)

By contrast, the 10 downregulated genes were primarily associated with epithelial membrane proteins ( 11 ). (spandidos-publications.com)

DMRT1 is the testis-determining factor in several species of vertebrates, but its involvement in mammalian testes differentiation, where SRY is the testis-determining gene, remains ambiguous. (bvsalud.org)
Disruption of the key genes involved in the differentiation of the gonads can lead to fertility problems, and in some cases, it can cause the gonads to develop in the 'opposite' direction, resulting in a sex reversal. (bvsalud.org)
However, its role in mammals - where testis differentiation is driven by a different gene called SRY - is not well understood. (bvsalud.org)

abstract = "Alternating purine-pyrimidine (APP) sequences which might assume left handed DNA helical structures (Z-DNA) could influence the expression of genes in which they were located. (elsevierpure.com)

CAFs are different from NFs, and their unique phenotypes and functions are partly determined by differences in gene expression. (spandidos-publications.com)

Using the IMpRH 7000rad and IMNpRH2 12000rad radiation hybrid panels, these 5 genes mapped between microsatellite markers SWR67 and SW2067 . (biomedcentral.com)

Screening the porcine CHORI-242 BAC library with a full-length AKR1C4 cDNA identified 7 positive clones and sample sequencing of 5 BAC clones revealed 5 distinct AKR1C genes ( AKR1CL2 and AKR1C1 through 4 ), which mapped to 126-128 cM on SSC10. (biomedcentral.com)

Katherine studies a gene that causes microcephaly and cerebellar hypoplasia in human pediatric patients, using mice and human induced pluripotent stem cells to reveal why this gene is influential for brain development. (nationwidechildrens.org)
Indeed, when DMRT1 is disrupted in male humans it leads to disorders of sex development, while disrupting this gene in male mice causes infertility. (bvsalud.org)

Anatomy1

Diseases1

Chemicals and Drugs60

Phenomena and Processes7

Information Science3

Beta-hydroxysteroid dehydrogenase24

Encodes6

3beta-hydroxysteroi1

11beta-hydroxysteroi7

Steroid11

Enzyme5

Deficiency is a rare1

HSD17B132

HSD17B32

Reductase family1

Glucocorticoid receptor2

Protein8

Chromosome7

Mutation3

Type4

Metabolism3

Alcohol Oxidoreductases1

Adrenal1

Isomerase2

Androgen1

Intracellular1

Variants4

Steroidogenic2

High affinity1

Caused by mutations2

Phenotypic1

Regulation3

Testicular2

Activity4

Testosterone2

Specific genes1

HSD17B101

Genetic2

Fingerprint1

Mutations in this gene2

Superfamily1

Cortisol1

Microarray2

Aromatase gene1

Epithelial1

Differentiation3

Abstract1

Phenotypes1

Microsatellite1

AKR1C11

Mice2