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.
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90-120 / 1000+ results 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 Dynamic regulation of retinoic acid-binding proteins in developing, adult and neoplastic skin reveals roles for β-catenin and Notch signalling
Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research 5α-Reductase underscores the development of pectoral fin breeding tubercles in zebrafish
The development of breeding tubercles in male zebrafish relies on a specific enzyme that processes hormones.
research AGD1, a class 1 ARF‐GAP, acts in common signaling pathways with phosphoinositide metabolism and the actin cytoskeleton in controlling Arabidopsis root hair polarity
AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
research A pan-European register-based observational study of abrocitinib and conventional systemic therapies in moderate and severe atopic dermatitis: the DREAM TO TREAT AD study protocol
Abrocitinib is being evaluated for safety and effectiveness in treating moderate to severe atopic dermatitis.
research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis
A specific gene change is linked to severe hair loss.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Rat hair follicle-constituting cells labeled by a newly-developed somatic stem cell-recognizing antibody: a possible marker of hair follicle development.
A3 antibody helps identify key cells in rat hair follicle development.
research Triple Hormonal Blockade (ADT3): A Patient’s Perspective
Triple Hormonal Blockade (ADT3) can effectively manage prostate cancer but requires careful monitoring for heart risks.
research ABHRS Results Announced
27 out of 32 candidates passed the hair restoration surgery exam.
research Prevalence of cutaneous markers in coronary artery disease cases
A preauricular crease is common in people with coronary artery disease.
research ASSOCIATION BETWEEN AB0 BLOOD TYPE SYSTEM WITH A HEMOGLOBIN LEVEL IN BLOOD AND IRON CONCENTRATION IN HAIR
B(III) blood type may have higher hemoglobin levels, but stress affects this, and hair iron levels correlate with hemoglobin in some blood types.
research Differential expression of retinoic acid-synthesizing (RALDH) enzymes during fetal development and organ differentiation in the mouse
Different enzymes are active in different parts of developing mouse organs.
research Overexpression of aldo-keto reductase 1C3 (AKR1C3) in LNCaP cells diverts androgen metabolism towards testosterone resulting in resistance to the 5α-reductase inhibitor finasteride
Too much AKR1C3 enzyme causes resistance to finasteride by increasing testosterone.
research Impact of electrical impedance spectroscopy on dermatologists' number needed to biopsy metric and biopsy decisions for pigmented skin lesions
Electrical impedance spectroscopy improves biopsy accuracy and efficiency for skin lesions.
research Clinical study of common bacterial, fungal and parasitic skin diseases in cats
Fungal infections are the most common skin disease in cats, especially white ones.
research Telogen Effluvium in Patients After Bariatric Surgery: A Scoping Review
Hair loss after bariatric surgery is common due to nutrient deficiencies and rapid weight loss.
research The story of when kidneys fail and the contribution of Air Vice-Marshal Sir Ralph Jackson
Air Vice-Marshal Sir Ralph Jackson significantly advanced dialysis technology in the UK.
research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11
research Two Opposing Faces of Retinoic Acid: Induction of Stemness or Induction of Differentiation Depending on Cell-Type
Retinoic acid can either maintain stem cells or make them specialize, depending on the cell type.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research BRCA2 in abscission
The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
research ATP-dependent chromatin remodeling during mammalian development
ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
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 Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Dodatek A: Model matematyczny AL/RC/ASE. Functional Androgen Axis (FOA) - wersja operacyjna v1.2
The model improves understanding of androgen interactions by focusing on signal intensity and system capacity.