research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
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research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research Immunofluorescent localization of collagen types I, III and IV, fibronectin, laminin, and basement membrane proteoglycan in developing mouse skin
research Investigating the roles of cellular senescence in embryogenesis and aging
Cellular senescence is crucial for normal embryonic development but contributes to aging in adults.
research Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research Notch Signaling Regulates Late-Stage Epidermal Differentiation and Maintains Postnatal Hair Cycle Homeostasis
Notch signaling is essential for healthy skin and hair follicle maintenance.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research The Naked (N) Mutation, Chromosome 15
The naked mutation in mice causes hair loss and helps identify keratin genes.
research Bone Morphogenetic Protein Signaling Inhibits Hair Follicle Anagen Induction by Restricting Epithelial Stem/Progenitor Cell Activation and Expansion
BMP signaling prevents hair growth by stopping stem cell activation.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Selective Modulation of Hedgehog/GLI Target Gene Expression by Epidermal Growth Factor Signaling in Human Keratinocytes
EGF signaling affects gene expression in skin cells, influencing hair growth and potentially cancer.
research An eGFP-Col4a2 mouse model reveals basement membrane dynamics underlying hair follicle morphogenesis
Basement membrane changes are crucial for hair follicle development.
research RNase L represses hair follicle regeneration through altered innate immune signaling
RNase L hinders hair follicle regeneration by altering immune signals.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research ACE2 Inhibits Dermal Regeneration Through Ang II in Tissue Expansion
Inhibiting ACE2 improves skin regeneration during tissue expansion.
research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
research Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Role of the Notch Ligand Delta1 in Embryonic and Adult Mouse Epidermis
Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
research Involvement of the Edar Signaling in the Control of Hair Follicle Involution (Catagen)
Edar signaling is crucial for controlling hair growth and regression.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research Beyond Expectations
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research NG2 Proteoglycan Expression in Mouse Skin: Altered Postnatal Skin Development in the NG2 Null Mouse
NG2 is crucial for normal skin and hair development in mice.
research Editors' Picks
ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Laminin α5 in the keratinocyte basement membrane is required for epidermal–dermal intercommunication
Laminin α5 is essential for skin communication and health.