research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
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900-930 / 1000+ resultsresearch Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research Cell Type-specific Functions of the Lysosomal Protease Cathepsin L in the Heart
Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
research ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Haff disease associated with the ingestion of the freshwater fish Mylossoma duriventre (pacu-manteiga)
Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
research The role of anemia and vitamin D levels in acute and chronic telogen effluvium
Low iron levels are a significant risk factor for hair loss, while high vitamin D levels might be a response to hair loss, not a cause.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Discoid Lupus Erythematosus
Discoid Lupus Erythematosus often causes scarring hair loss, is influenced by genetics and environment, and requires early treatment to prevent worsening.
research Supplementary Material for: Association between Serum Trace Elements and Telogen Effluvium: A Systematic Review and Meta-Analysis
Low ferritin and vitamin D levels are linked to hair loss.
research THE IMPACT OF HOMOCYSTEINE IN LUPUS ERYTHEMATOSUS: A LINK OF INFLAMMATION, SKIN AND CARDIOVASCULAR RISK
High homocysteine levels in lupus may increase inflammation and cardiovascular risk.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Laminin 332 Is Indispensable for Homeostatic Epidermal Differentiation Programs
Laminin 332 is essential for normal skin cell behavior and structure.
research Dermatophytosis in sheep due to Trichophyton mentagrophytes; occurrence, haemato-biochemical and pathomorphological changes*
Trichophyton mentagrophytes causes skin issues and nutrient deficiencies in young sheep, especially in winter.
research Clinical Quiz
The toddler's health issues were caused by too much vitamin A from supplements.
research Human Essential Fatty Acid Deficiency
Applying safflower oil to the skin reversed fatty acid deficiency symptoms in 21 days.
research Embolic Stroke as the Initial Manifestation of Systemic Lupus Erythematosus
Early recognition and management of connective tissue diseases like lupus are crucial in young patients.
research Letters to the Editor
A gluten-free diet resolved a girl's symptoms, revealing undiagnosed Coeliac disease as the cause.
research Further Observations on Riboflavin as a Food Factor in Economy of Food Utilization
Riboflavin is essential for health and growth, and its deficiency causes serious health issues.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Subchronic study of sperm morphology, genotoxic and mutagenic effect of Lepidium sativum seeds aqueous extract in vivo
High doses of Lepidium sativum seed extract are toxic and should be used with caution.
research Clinical, histopathological and immunological characteristics of exfoliative cutaneous lupus erythematosus in 25 German short‐haired pointers
A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
research Multiple Roles of Integrin-Linked Kinase in Epidermal Development, Maturation and Pigmentation Revealed by Molecular Profiling
ILK is essential for skin development, pigmentation, and healing.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.