research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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research Natural Killer Group 2 Type D (NKG2D) Gene Polymorphism in Systemic Lupus Erythematosus-Suez Canal Region - Egypt
NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
research Vitiligo-like depigmentation with perifollicular pigment retention in systemic sclerosis treated successfully with suplatast tosilate
Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Metabolic pathway of Cis-UCA upon Ultraviolet B (UVB) exposure using ¹H Nuclear Magnetic Resonance (NMR) spectroscopy, Molecular Docking and cell viability of human keratinocytes (HaCaT) cell lines
Cis-UCA can form new compounds without enzymes, and sulphide donors reduce its UVB-induced toxicity in skin cells.
research Phenolsulphotransferase: localization in kidney during human embryonic and fetal development
The enzyme PST is found in developing human kidneys and helps with detoxification and development.
research Establishment of SV40T-transformed human dermal papilla cells and identification of dihydrotestosterone-regulated genes by cDNA microarray
Researchers created a cell line to study hair growth and found specific genes affected by dihydrotestosterone.
research Quantification of Squalene and Lactic Acid in Hair Bulbs with Damaged Sheaths: Are They Metabolic Wastes in Alopecia?
Squalene may be a marker for certain types of alopecia.
research Study of the Association of Some Blood and Urine Markers in Diagnosing in Pediatric Systemic Lupus Erythematous.
Blood and urine markers are important for diagnosing lupus in children.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Fully automated chip-based nanoelectrospray ionization-mass spectrometry as an effective tool for rapid and high-throughput screening of 5α-reductase inhibitors
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Cloning and Activity of Mouse Ultra-High Sulfur Keratin Gene Promoter
The UHS promoter is specific to mouse hair follicles.
research Sublingual minoxidil for the treatment of male and female pattern hair loss: a randomized, double‐blind, placebo‐controlled, phase 1B clinical trial
Sublingual minoxidil safely promotes hair growth.
research S100A6: molecular function and biomarker role
S100A6 is important for cell functions and can help diagnose and treat diseases.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Regulation and Role of GLI1 in Cutaneous Squamous Cell Carcinoma Pathogenesis
GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
research Sequence Analysis of mtDNA NADH-Ubiquinone Oxidoreductase Chain 1 Gene (ND1) of the Asian Black Bear Sichuan Subspecies (Ursus thibetanus mupinensis)
The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
research AN ATTEMPT TO ASSESS THE MAGNITUDE OF ENDOGENOUS ANDROGEN PRODUCTION IN A CASE OF THE ADRENOGENITAL SYNDROME*
A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research P50 Difficult to diagnose SLE manifestations associated with cardiac arrest, myocarditis, chronic pericarditis, polyneuropathy
Accurate diagnosis of SLE requires extensive testing due to its complex symptoms.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research HLA-B27 Antigen in Women With Ankylosing Spondylitis
Most women with ankylosing spondylitis tested positive for HLA-B27, suggesting it's useful for diagnosis.
research Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
A special diet can fix hair problems in argininosuccinase deficiency.
research Identification of sirtuin 1 as a promising therapeutic target for hypertrophic scars
Sirtuin 1 could be a potential drug target for treating hypertrophic scars.
research Safety and efficacy of advanced and targeted acid α-glucosidase (AT-GAA) (ATB200/AT2221) in ERT-switch nonambulatory patients with Pompe disease: preliminary results from the ATB200-02 trial
The combination of tadalafil and finasteride improves urinary symptoms and erectile function in men with enlarged prostates.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.