research Generalized Hair-Follicle Hamartoma
Skin biopsy is crucial for diagnosing unknown baldness causes.
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research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation
A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research Molecular and spatial design of early skin development
The research reveals how early embryonic mouse skin develops from simple to complex structures, identifying various cell types and their roles in this process.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Cell-Type-Specific Chromatin States Differentially Prime Squamous Cell Carcinoma Tumor-Initiating Cells for Epithelial to Mesenchymal Transition
Different types of skin cells have unique genetic markers that affect how likely they are to spread cancer.
research Updates on Trichodysplasia Spinulosa Disease
Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research 458 UVB-induced facultative pigmentation is associated with distinct DNA methylation changes
Tanning ability is linked to specific DNA changes in skin genes.
research 1340 Basal keratinocytes exhibit age-related epigenetic and transcriptomic alterations resulting in an altered metabolic profile
Aging changes skin cells, leading to different DNA methylation and gene activity, affecting cell metabolism and aging signs.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
research Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research The Roles of Smad2 and Smad3 in Mouse Skin Development
Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
research Phylloid terminal hair nevus: A unique clinical entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Trichodysplasia spinulosa: A benign adnexal proliferation with follicular differentiation associated with polyomavirus
Trichodysplasia spinulosa is a rare skin condition caused by a virus, treatable with antiviral medication.
research Hybrid Eccrine Gland and Hair Follicle Hamartoma
A rare skin growth in a baby was successfully removed without coming back.
research Rancangan televisyen: Menyangga atau menyanggah bahasa dan budaya?
The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
research Morpho-Regulation of Ectodermal Organs
Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.