research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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810-840 / 1000+ resultsresearch Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research GWAS for Male-Pattern Baldness Identifies 71 Susceptibility Loci Explaining 38% of the Risk
Researchers found 71 genetic regions linked to male pattern baldness, which account for 38% of its genetic risk.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research A Powerful Method for Pleiotropic Analysis Under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research A Rare Cutis Verticis Gyrata Secondary to Cerebriform Intradermal Nevus: Case Report and Literature Review
A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Off-Label Uses of Retinoids in Dermatology
Retinoids are effective for various skin conditions and hair loss but have serious side effects, so low doses are recommended.
research From Gene to Therapy in Spinal and Bulbar Muscular Atrophy: Are We There Yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Preparing the Hair Follicle Canal for Hair Shaft Emergence
A specific type of skin cell creates an opening for hair to grow out, and problems with this process can lead to skin conditions.
research The Spectrum of Skin Disease Among Indian Children
The most common skin problems in Indian children are infections and eczemas.
research Sex Steroid Synthesis in Human Skin In Situ: The Roles of Aromatase and Steroidogenic Acute Regulatory Protein in the Homeostasis of Human Skin
Human skin produces sex hormones like estrogen and testosterone, influenced by ARO and StAR, which may affect skin elasticity and hair growth.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research The Role of Local and Systemic Leptin in Androgenetic Alopecia
Higher leptin levels link to hair loss.
research Photobiomodulation as a Treatment in Dogs with Black Hair Follicular Dysplasia
Photobiomodulation effectively treats hair loss in dogs with black hair follicular dysplasia.
research Acquired Trichomegaly of the Eyelashes and Hypertrichosis Induced by Bimatoprost
Bimatoprost can cause longer, thicker, darker eyelashes and eyebrows.
research Cutaneous Manifestations of Endocrine-Metabolic Disease and Nutritional Deficiency in the Elderly
Skin problems in older people can indicate hormonal diseases, nutritional deficiencies, or conditions like diabetes, menopause, and HIV.
research Successful Treatment of Sebaceous Adenitis in a Rabbit with Ciclosporin and Triglycerides
A rabbit with sebaceous adenitis was effectively treated with ciclosporin and medium-chain triglycerides.
research The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization
Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.
research Use of Ultra-Fast One-Step CK5 IHC for Identifying BCC and SCC During Mohs Surgery
A new one-step test can quickly identify skin cancer during surgery.
research Down-Regulatory Role of Cholecystokinin on Psoriatic Epidermal Inflammation
Cholecystokinin may help reduce skin inflammation in psoriasis.
research A Novel Small Compound HPH-15 Antagonizes TGF-β/Smad Signaling and Ameliorates Experimental Skin Fibrosis
HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
research Structural Changes in Human Skin After Topical Application of Glucocorticoids Assessed by In Vivo Imaging Technologies
Topical glucocorticoids thin the skin and change collagen structure.
research Deep Phenotyping of Patients with Xeroderma Pigmentosum and Trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Efficacy of Dupilumab in Treating Atopic Dermatitis With Recurrent Eczema Herpeticum in a Patient With DOCK8-Deficiency Hyper-IgE Syndrome: A Case Report
Dupilumab helped improve skin and prevent new lesions in a child with a rare immune disorder and severe eczema.
research FGF5 Is a Crucial Regulator of Hair Length in Humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.