research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
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30-60 / 1000+ resultsresearch The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research 17-Beta-Hydroxy-Steroid-Dehydrogenases in Hair Follicles of Normal and Bald Scalp: A Histochemical Study
research 11α-Hydroxyprogesterone, a potent 11β-hydroxysteroid dehydrogenase inhibitor, is metabolised by steroid-5α-reductase and cytochrome P450 17α-hydroxylase/17,20-lyase to produce C11α-derivatives of 21-deoxycortisol and 11-hydroxyandrostenedione in vitro
11α-Hydroxyprogesterone is changed into different substances by certain enzymes and may play a role in prostate cancer.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research 707 Hypoxia induced Multipotent Stem Cell-Secreted Proteins Induce Hair Growth in a Phase 1a/2b trial in Male Pattern Baldness
A trial showed that a new treatment is safe and effective for male pattern baldness, with most participants growing new hair.
research Oxidative Activity of the Type 2 Isozyme of 17β-Hydroxysteroid Dehydrogenase (17β-HSD) Predominates in Human Sebaceous Glands
The enzyme 17β-HSD type 2 mainly performs oxidation in human sebaceous glands, which may help protect against acne.
research Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency (NC-3BHSD)
Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
research Analysis of the FGF gene family provides insights into aquatic adaptation in cetaceans
Whale genes show changes that help them live in water, like less hair and better flippers.
research Glutamic acid promotes hair growth in mice
Glutamic acid helps increase hair growth in mice.
research Emerging lipid–polymer hybrid nanoparticles for genome editing
Lipid–polymer hybrid nanoparticles can improve genome editing delivery and outcomes.
research In-silico cardiac aging regulatory model including microRNA post-transcriptional regulation
Researchers created a model to understand heart aging, highlighting the role of microRNAs and identifying key genes and pathways involved.
research Evaluation of the rodent Hershberger assay using three reference endocrine disrupters (androgen and antiandrogens)
The assay effectively detects hormonal activity of certain chemicals.
research Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
Consider rare forms of CAH for accurate diagnosis and treatment.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Proceedings of the Joint CHSF /HSF /EHSF pre‐WCD Hidradenitis Suppurativa Symposium
HS needs personalized treatment plans and more research.
research RP-HPLC Technique for Dustasteride Quantitative Estimation in Tablet Dosage Form: Formulation and Validation of Analytical Technique
A reliable method was developed to measure dutasteride in tablets accurately and consistently.
research 11β-Hydroxysteroid dehydrogenase type 1 inhibitors for the treatment of type 2 diabetes
Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
research High resolution full scan liquid chromatography mass spectrometry comprehensive screening in sports antidoping urine analysis
The method effectively detects banned substances in urine for sports antidoping.
research MALE PSEUDOHERMAPHRODITISM DUE TO 17β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY: STUDIES ON THE NATURAL HISTORY OF THE DEFECT AND EFFECT OF ANDROGENS ON GENDER ROLE
Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
research 1326 Hes1 regulates anagen initiation and hair follicle regeneration through modulation of hedgehog signaling
research Expression of 11β-hydroxysteroid dehydrogenase type 1 in visceral and subcutaneous adipose tissues of patients with polycystic ovary syndrome is associated with adiposity
Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.