research Cellular activation pathways and interaction networks in vascularized composite allotransplantation
Understanding cellular interactions in VCA may lead to better treatments and reduce rejection.
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210-240 / 1000+ resultsresearch T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Transferosomes: Unique vesicular carriers for effective transdermal delivery
Transferosomes effectively deliver drugs through the skin, improving treatment for skin disorders.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Trichorrhexis Invaginata in Tinea Capitis: A Rare Occurence
Trichorrhexis invaginata can occur with tinea capitis, though it's rare.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
Mutation in hairless gene may increase hair loss risk.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
Mutation in hairless gene may increase hair loss risk.
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Abstract 4385: Live-imaging the interface between homeostasis and cancer initiation
Mutant cells in hair follicles are influenced by their location and interactions with surrounding cells.
research Faculty Opinions recommendation of Hidradenitis suppurativa as a potential subtype of autoinflammatory keratinization disease.
Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research Hidradenitis suppurativa secondary to treatment with a gamma secretase inhibitor
A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research The effect of inflammatory cytokines on the risk of hypertrophic scar: A Mendelian Randomization Study
Certain proteins can either protect against or increase the risk of hypertrophic scars.
research Prenatal serological diagnosis of intrauterine cytomegalovirus infection.
Blood tests confirmed a baby in the womb had a CMV infection.
research Enhanced delivery of drugs into and across the skin by ethosomal carriers
Ethosomal carriers improve drug delivery through the skin better than traditional methods.
research Delivery of Tissue-Targeted Scalpels: Opportunities and Challenges for In Vivo CRISPR/Cas-Based Genome Editing
Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Identification of Familial Infections Using Multilocus Microsatellite Typing in Tinea Corporis due to <i>Microsporum canis</i>
A mother and her two daughters got a skin infection from their cat.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Clinical characteristics and outcomes of patients with superficial venous thrombosis at multiple sites simultaneously
Patients with multiple superficial venous thrombosis are at greater risk for serious complications like cancer and recurrent blood clots.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Decision‐Making Regarding the Administration of Live Vaccines to Patients With a FOXN1 Heterozygous Missense Variant
Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
research Biological, cellular, and molecular characteristics of an inducible transgenic skin tumor model: a review
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.