research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
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research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Uterus Hyperplasia and Increased Carcinogen-Induced Tumorigenesis in Mice Carrying a Targeted Mutation of the Chk2 Phosphorylation Site in Brca1
Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research JAK inhibitors and alopecia areata
JAK inhibitors help regrow hair in alopecia areata patients, improving their quality of life.
research Advances in the mechanism and new therapies of alopecia areata
New treatments targeting the JAK signaling pathway, especially JAK inhibitors, show promise for alopecia areata.
research Il-10 family members as novel responders to genotoxic stress
IL-19 and IL-24 help cells respond to DNA damage and could be targeted for cancer and age-related disease treatments.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Is knowledge about the genetic and epigenetic alterations in melanoma a basis for targeted therapy?
Targeting multiple pathways and understanding genetic mutations are crucial for effective melanoma therapy.
research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Differences in activation of β-catenin in outer root sheath cells between the type of JAK inhibitor: An alternative mechanism promoting hair growth by JAK inhibitors in alopecia areata
research Concerted gene duplications in the two keratin gene families
research GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT
MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
research 69 Risk-benefit appraisal of systemic JAK inhibitors for alopecia areata: a comprehensive meta-analysis assessing safety and adverse effects
JAK inhibitors are effective and generally safe for treating alopecia areata, but monitoring for side effects is important.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Dermatologic Changes Associated With Interleukin 2 Administration
IL-2 treatment causes skin eruptions and other reversible side effects, and may play a role in psoriasis.
research Protein Kinase C δ Overexpressing Transgenic Mice Are Resistant to Chemically but not to UV Radiation–Induced Development of Squamous Cell Carcinomas: A Possible Link to Specific Cytokines and Cyclooxygenase-2
Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
research Protein Kinase C Epsilon Signals Ultraviolet Light-induced Cutaneous Damage and Development of Squamous Cell Carcinoma Possibly Through Induction of Specific Cytokines in a Paracrine Mechanism¶
Protein kinase C epsilon may increase skin cancer risk by affecting nearby cells.
research Inhibiting Janus kinases to treat alopecia areata
JAK inhibitors might help treat alopecia areata.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Janus kinase inhibitors: An innovative treatment for alopecia areata
New medicines that block a specific pathway are showing promise for treating severe hair loss but need more testing for safety and effectiveness.
research Drug news and therapeutic news
JAK inhibitors help treat some diseases but may increase risks of blood clots and cancer in certain patients.
research KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype
Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research 277 HPV8 E6 induced STAT3 activation leads to hair follicle junctional zone keratinocyte stem cell proliferation and expansion in actinic keratoses
HPV8 causes hair follicle stem cells to grow, leading to skin lesions.