research Trichoblastic Carcinoma (“Malignant Trichoblastoma”) with Lymphatic and Hematogenous Metastases
Long-standing benign tumors can become cancerous, especially in people with weakened immune systems.
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research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Red Blood Cells Folate Level in Patients with Alopecia Areata
Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research CARI ONE Induces Anagen Phase of Telogenic Hair Follicles Through Regulation of β-Catenin, Stimulation of Dermal Papilla Cell Proliferation, and Melanogenesis
CARI ONE helps start hair growth and makes hair follicles bigger and more numerous.
research Diphlorethohydroxycarmalol, Isolated from Ishige okamurae, Increases Prostaglandin E2through the Expression of Cyclooxygenase-1 and -2 in HaCaT Human Keratinocytes
A compound from brown algae boosts the production of a certain inflammatory substance in skin cells.
research Targeting telomeric RNA quadruplexes with natural metabolites to prevent cancer
research OsUEV1B, an Ubc enzyme variant protein, is required for phosphate homeostasis in rice
OsUEV1B protein is essential for controlling phosphate levels in rice.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Hyperpigmentation, severe alopecia, and six days of instability in a case of severe methotrexate hypersensitivity reaction
A woman had severe reactions to methotrexate, including skin issues and organ problems, but improved after 38 days in the hospital.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges
Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
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 Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Keratinization of sheath and calamus cells in developing and regenerating feathers
Feathers become harder as they develop due to a change in keratin type.
research A liquid chromatography/tandem mass spectrometry method for determination of aristolochic acid‐I in rat plasma
A reliable method was developed to measure aristolochic acid-I in rat blood.
research Cortisol Enhances the Expression of mac25/Insulin-Like Growth Factor-Binding Protein-Related Protein-1 in Cultured Osteoblasts**This work was supported by NIDDK Grant DK-45227 and a scholarship (to R.C.P.) from Fundacao Coordenacao de Aperfeicoa mento de Pessoal de Nivel Superior (CAPES), Universidade de Sao Paulo (Sao Paulo, Brazil).
Cortisol increases a specific protein in bone cells, which may help explain its negative effects on bone.
research Peroxisome Proliferator Activated Receptor-Gamma Tissue Expression and Gene Polymorphism in Alopecia Areata in an Egyptian Sample
PPAR-γ may be a key target for treating alopecia areata and other skin conditions.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research Targeting cardiac hypertrophy through a nuclear co‐repressor
Targeting NCoR1 can help treat heart enlargement and dysfunction.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Hormonal Induction of Feather Pigmentation in Ptarmigan
Hormones can change ptarmigan feather color from white to pigmented.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Synthesis and Evaluation of 2‘-Substituted 4-(4‘-Carboxy- or 4‘-carboxymethylbenzylidene)-N-acylpiperidines: Highly Potent and in Vivo Active Steroid 5α-Reductase Type 2 Inhibitors
Compounds 15, 20, and 25 are strong inhibitors of human steroid 5α-reductase type 2.