research Biotinidase Enzyme Deficiency ( Case Report )
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
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390-420 / 1000+ resultsresearch Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes
FTase and GGTase-I are essential for skin keratinocyte health.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Graying of Hair in Rats Fed a Ration Deficient in Lysine
research Graying of Hair in Rats Fed a Ration Deficient in Lysine
research Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study
Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Evaluation of glucuronide metabolite stability in dried blood spots
Dried blood spots can be as stable as frozen liquid samples for storing certain metabolites.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
research Cytotoxicity and Collagen Expression Effects of Tideglusib Administration on Human Periodontal Cells: An In-Vitro Study
Tideglusib may help bone regeneration without being toxic at low doses.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research The effect of proteolytic enzymes on hair follicles of transgenic mice expressing the lac Z-protein in cells of the bulge region
Proteolytic enzymes damaged hair follicle stem cells in transgenic mice.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Comprehensive Case Analysis: Diagnosing and Managing Myositis in Newly Diagnosed Systemic Lupus Erythematosus Patients in Indonesia.
Early diagnosis and treatment of myositis in SLE patients lead to positive outcomes.
research A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts
research CLINICAL NUTRITION PROGRAM IMPROVES SENSORY LOSS IN A 60 YEAR OLD TRUCK DRIVER WITH ANTI-MAG NEUROPATHY
A clinical nutrition program improved sensory and motor function in a 60-year-old with anti-MAG neuropathy.
research Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases
Newborn screening for biotinidase deficiency is effective in preventing severe complications.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Characterization of Recombinant Human Liver Thermolabile Phenol Sulfotransferase with Minoxidil as the Substrate
Both enzyme forms can sulfate minoxidil.
research Exploring the hair loss risk in glucagon‐like peptide‐1 agonists: Emerging concerns and clinical implications
Newer GLP-1 drugs like semaglutide may cause hair loss.
research Use of Glucagon-Like Peptide-1 (GLP-1) Agonists in Modulating Preexisting Dermatologic Disease: A Systematic Review
GLP-1 agonists may help treat certain skin conditions.
research The role of phosphoglycerate dehydrogenase in cell proliferation and tumor progression
PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
research Efficacy and safety of SGLT2 inhibitor on insulin resistance and hyperglycemia in Werner syndrome—A case report
Dapagliflozin improved blood sugar control in a man with Werner syndrome without side effects.
research A Sensitive Assay for the Enzyme Activity in Hair Follicles and Epidermis that Catalyses the Peptidyl-Arginine-Citrulline Post-translational Modification
A more sensitive assay was developed to detect enzyme activity converting arginine to citrulline in hair follicles.