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.
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750-780 / 1000+ results research NFAT5 mediates hypertonic stress-induced atherosclerosis via activating NLRP3 inflammasome in endothelium
NFAT5 triggers atherosclerosis under stress by activating inflammation in blood vessels.
research 5α-reductase inhibitors
5α-reductase inhibitors help treat disorders caused by DHT and have potential for future therapies.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research ▼ Strontium ranelate discontinued
Strontium ranelate is no longer available for treatment.
research A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia
The EDAR gene greatly affects hair thickness in Asian populations.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Sex-Chromosome-Related Dimorphism in Steroidogenic Enzymes and Androgen Receptor in Response to Testosterone Treatment: An In Vitro Study on Human Primary Skeletal Muscle Cells
Chromosomal differences affect how muscle cells respond to testosterone.
research Mycobacterial 65,000 MW heat-shock protein shares a carboxy-terminal epitope with human epidermal cytokeratin 1/2.
A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
research Δ5-3β-Hydroxysteroid Dehydrogenase Activity in Sebaceous Glands of Scalp in Male-Pattern Baldness
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Methylated CpG dinucleotides in 5-α reductase 2 gene might explain the finasteride-resistance in BPE patients
Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.
research Decades of progressive red and yellow nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research Vitamin D receptor gene polymorphisms are not associated with alopecia areata
Vitamin D receptor gene variations are not linked to alopecia areata.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Structural & functional studies of L-PGDS and SMPDL3A enzymes in lipid signaling family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
research Human Peptidylarginine Deiminase Type III: Molecular Cloning and Nucleotide Sequence of the cDNA, Properties of the Recombinant Enzyme, and Immunohistochemical Localization in Human Skin
PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research In response to the letter to the editor by Soha Ghanian et al. re our publication “Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males”
The authors maintain that shorter androgen receptor alleles may lead to milder COVID-19 by positively affecting the immune response, not due to changes in testosterone levels or activity.
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 The Androgen Receptor and Its Use in Biological Assays: Looking Toward Effect-Based Testing and Its Applications
Scientists have developed a new method to detect steroid abuse in athletes using cell-based tests, which could be the future of anti-doping methods.
research Immunolocalization of androgen receptor in the epididymis of rats with dihydrotestosterone deficiency.
Finasteride changes androgen receptor location in rat epididymis without altering tissue structure.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.