research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
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research Higher Levels of Steroidogenic Acute Regulatory Protein and Type I 3β-Hydroxysteroid Dehydrogenase in the Scalp of Men with Androgenetic Alopecia
Men with baldness have higher levels of specific proteins, suggesting local hormone production may play a role in hair loss.
research LC-MS/MS improves screening towards 21-hydroxylase deficiency
LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
research Sexual dimorphism of growth plate prehypertrophic and hypertrophic chondrocytes in response to testosterone requires metabolism to dihydrotestosterone (DHT) by steroid 5‐alpha reductase type 1
Male cells need DHT to respond to testosterone, while female cells do not.
research Deletion of Deoxyribonucleic Acid Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D
Removing part of the vitamin D receptor stops vitamin D from working properly.
research Molecular cloning of two novel types of peptidylarginine deiminase cDNAs from retinoic acid‐treated culture of a newborn rat keratinocyte cell line
Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
research Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency
Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research ACOD1 deficiency promotes DDX1 methylation–mediated mitochondrial dysfunction and dermal papilla cell senescence in androgenetic alopecia
ACOD1 deficiency worsens hair loss by causing cell aging and mitochondrial problems, but 4-OI may help.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Vitamin D receptor-mediated control of Soggy, Wise, and Hairless gene expression in keratinocytes
Vitamin D receptor helps control hair growth genes in skin cells.
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 Extensive Challenges and Pending Advances in the Study of 5-Alpha-Reductase Isoenzymes. A Literature Review
5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Markers of peripheral androgen action in vivo and in vitro
Dihydrotestosterone (DHT) is crucial for conditions like male-pattern baldness and acne, and measuring a byproduct, androstanediol glucuronide, is a better way to assess DHT's effects than DHT blood levels.
research Kinetic analysis of LY320236: competitive inhibitor of type I and non-competitive inhibitor of type II human steroid 5α-reductase
LY320236 is a strong blocker of two enzymes that change testosterone into dihydrotestosterone and might help treat conditions related to male hormones.
research Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries
Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
research Scalp hair 17‐hydroxyprogesterone and androstenedione as a long‐term therapy monitoring tool in congenital adrenal hyperplasia
Scalp hair 17-OHP and androstenedione levels can help monitor treatment in CAH patients.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency
Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
research 3 alpha, 17 beta-androstanediol glucuronide in plasma. A marker of androgen action in idiopathic hirsutism.
High levels of 3 alpha-diol glucuronide in the blood are a marker of increased androgen action in women with excessive hair growth of unknown cause.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Structural basis for the catalysis and inhibition of human steroid 5α‐reductase 2
The research gives new understanding on how human steroid 5α-reductases work and how drugs like finasteride inhibit them, which could help in creating new drugs.
research Genetic variations associated with response to dutasteride in the treatment of male subjects with androgenetic alopecia
Genetic variations affect dutasteride treatment response for male pattern hair loss.
research The Function of 5α-reductase in Related Diseases
5α-reductase enzyme affects hormone levels, influencing conditions like acne and hair loss.
research Ornithine decarboxylase is upregulated by the androgen receptor in skeletal muscle and regulates myoblast proliferation
Androgens increase muscle mass by promoting myoblast growth through ornithine decarboxylase.
research Novel mechanisms for the vitamin D receptor (VDR) in the skin and in skin cancer
Vitamin D receptor helps prevent skin cancer and supports skin health.