research Crystal structure of steroid reductase SRD5A reveals conserved steroid reduction mechanism
The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
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30-60 / 1000+ results research 5α-Reductase, an enzyme regulating glucocorticoid action in the testis of Rhinella arenarum (Amphibia: Anura)
5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Cloning, computational analysis and expression profiling of steroid 5 alpha-reductase 1 (SRD5A1) gene during reproductive phases and ovatide stimulation in endangered catfish, Clarias magur
The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
research Increased 25(OH)D3 level in redheaded people: Could redheadedness be an adaptation to temperate climate?
Redheaded people may have evolved to efficiently make vitamin D in areas with less sunlight.
research NAC transcription factor RD26 is a regulator of root hair morphogenic plasticity
RD26 controls root hair growth during drought by repressing key genes, helping plants save energy.
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 Dysregulation of Grainyhead-like 3 expression causes widespread developmental defects
Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
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 Hypothesis: Wound‐induced TLR 3 activation stimulates endogenous retinoic acid synthesis and signalling during regeneration
Activating TLR3 may help produce retinoic acid, important for tissue regeneration.
research Immunohistopathological analysis of frizzled-4-positive immature melanocytes from hair follicles of patients with Rhododenol-induced leukoderma
Rhododendrol in skin-whitening products can cause skin depigmentation and immune reactions.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Hair Cycle-Specific Immunolocalization of Retinoic Acid Synthesizing Enzymes Aldh1a2 and Aldh1a3 Indicate Complex Regulation
The enzymes Aldh1a2 and Aldh1a3 are involved in making retinoic acid in hair follicles and have different roles in hair growth.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Isolation rearing-induced reduction of brain 5α-reductase expression: Relevance to dopaminergic impairments
Isolation stress in rats reduces brain enzyme levels, affecting dopamine function.
research Subcellular localization of the five members of the human steroid 5α-reductase family
All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
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 Increased calcidiol level in redhaired people: Could redheadedness be an adaptation to temperate climate?
Redheaded people have higher levels of a vitamin D precursor, suggesting red hair may be an adaptation for better vitamin D synthesis in areas with less sunlight.
research Isolation and Molecular Cloning of Epidermal- and Hair Follicle-Specific Peptidylarginine Deiminase (Type III) from Rat
PAD type III enzyme is specific to rat skin and hair follicles.
research Morphogenesis- and Hair Cycle-dependent Expression of Trichohyalin, Peptidylarginine Deiminase Type III and Deiminated Trichohyalin in Rat Dorsal Skin Hair Follicles
THH and PAD type III appear together early in hair growth, but deiminated THH appears later, suggesting another factor is involved.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research 51223 A novel human disease model of alopecia areata to evaluate benefit of the DHODH inhibitor farudodstat
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.