research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
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300-330 / 1000+ resultsresearch Cyproterone Acetate Quantification in Human Plasma by High-performance Liquid Chromatography Coupled to Atmospheric Pressure Photoionization Tandem Mass Spectrometry
The method accurately measures cyproterone acetate in plasma, showing no significant difference between two formulations.
research The metabolically protective energy expenditure increase ofPik3r1-related insulin resistance is not explained by Ucp1-mediated thermogenesis
Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
research Piecing together the pigment-type switching puzzle
The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
research An Adult With Hair Loss! a Rare Case of Non-Classical 3β Hydroxysteroid Dehydrogenase (3β HSD) Deficiency
A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
research Diphencyprone Induced Vitiligo: A Case Report
Diphencyprone can cause unexpected and possibly permanent vitiligo.
research Generation of an intestinal‐specific hephaestin knockout mouse
Knockout mice showed anemia and hair loss, suggesting other ways exist for iron absorption.
research A Role for Steroid 5 alpha-reductase 1 in Vascular Remodelling During Endometrial Decidualisation
The enzyme 5α-reductase is important for proper blood vessel development during the fertility-related transformation of the uterus lining.
research New Synthesis of Methyl 3β-Hydroxy-5-androstene-17β-carboxylate
A new method was developed to make a compound used in finasteride and epristeride with a 69% yield.
research FRI-02 FROM GIRLS TO BOYS TO OLDER MEN, THE INTERESTING TALE OF THE GUEVEDOCES AND 5-ALPHA REDUCTASE INHIBITORS
The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
research Stability Studies on L-Ascorbic Acid dl-α-Tocopherol Phosphoric Acid Diester Potassium Salt (EPC-K)
EPC-K is stable except at very acidic pH or when exposed to sunlight, and it can decompose in low ethanol concentrations.
research Histidine decarboxylase expression influences the neofolliculogenesis of newborn mouse dermal cells
The gene HDC is important for the development of hair follicles in newborn mice.
research Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
research Metabolism of finasteride in rat hepatic microsomes: Age and sex differences and effects of P450 inducers
Finasteride metabolism varies by age, sex, and P450 inducers, with males processing it faster.
research Cytochrome P450: A Target for Drug Development for Skin Diseases
Modulating Cytochrome P450 activity could help develop new skin disease treatments.
research The iron content of human hair. II. Individuals with disturbed iron metabolism.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research In vivo Pharmacokinetic Interactions of Finasteride and Identification of Novel Metabolites
Finasteride is mainly broken down by the enzyme CYP3A4, affecting its levels in the body.
research Effect of 3-Beta Hydroxysteroid Dehydrogenase on Serum Testosterone Level in Obese Women With Polycystic Ovary Syndrome
3βHSD2 is not useful for diagnosing PCOS.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Structural and dynamic insights into substrate binding and catalysis of human lipocalin prostaglandin D synthase
The research explains how a human enzyme binds and processes its substrate, which could relate to its role in biological functions and hair loss.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Demethylation of methionine and keratin damage in human hair
Copper and iron cause keratin damage in hair by converting methionine to homocysteine.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research Protein Kinase Cε, Which Is Linked to Ultraviolet Radiation-Induced Development of Squamous Cell Carcinomas, Stimulates Rapid Turnover of Adult Hair Follicle Stem Cells
PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.
research The use of cyproterone acetate/ethinyl estradiol in hyperandrogenic skin symptoms – a review
Cyproterone acetate with ethinyl estradiol is effective for treating skin symptoms related to high androgen levels, like in PCOS.
research Ornithine decarboxylase expression in cutaneous papillomas in SENCAR mice is associated with altered expression of keratins 1 and 10.
High ODC and low K1 and K10 may indicate early skin tumors in mice.