research Unravelling the threads of central centrifugal cicatricial alopecia
Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
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750-780 / 1000+ resultsresearch A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Production of a 135-residue long N-truncated human keratinocyte growth factor 1 in Escherichia coli
A stable, active version of a growth factor was made in bacteria, showing promise for medical use.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Fatal Toxic Epidermal Necrolysis Associated With Cetuximab in a Patient With Colon Cancer
A cancer patient died from a severe skin reaction after taking the drug cetuximab.
research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.
A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Expression of enhancing factor/phospholipase A2 in skin results in abnormal epidermis and increased sensitivity to chemical carcinogenesis
research Exogenous Alpha-Ketoglutaric Acid Alleviates the Rabbit Dermal Papilla Cell Oxidative Damage Caused by Hydrogen Peroxide Through the ERK/Nrf2 Signaling Pathway
Alpha-ketoglutarate protects rabbit skin cells from oxidative damage by activating a specific cell pathway.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Cytokeratin 19 expression in usual cutaneous carcinomas
CK 19 expression is higher in more severe skin cancers.
research A second KRT 71 allele in curly coated dogs
A new gene variant causes curly coats in some dog breeds.
research Trichotillomania: a good response to treatment with N-acetylcysteine
N-acetylcysteine effectively treats trichotillomania.
research Improved health-span and lifespan in mtDNA mutator mice treated with the mitochondrially targeted antioxidant SkQ1
SkQ1 antioxidant improved health and lifespan in mice.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Cytokeratin 15 expression in central, centrifugal, cicatricial alopecia: new observations in normal and diseased hair follicles
CK15 is not a reliable marker for stem cells in damaged hair follicles from patients with CCCA.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
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 A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research A 20-year retrospective clinicopathologic study on melanoma in Singapore
Bleach baths with 0.005% hypochlorite help manage atopic dermatitis by affecting skin cells and reducing itchiness.
research Crystalline Cataract and Uncombable Hair
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
research Mutant Cx43 in Skin Differentiation and Disease
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
research P62 Pre-clinical pharmacological and skin penetration profile of LDE255, a novel and specific Smoothened antagonist
LDE225 is a promising skin-applied treatment for basal cell carcinoma with good skin penetration and effectiveness.
research Targeted Knockout of β-Catenin in Adult Melanocyte Stem Cells Using a Mouse Line, Dct::CreERT2, Results in Disrupted Stem Cell Renewal and Pigmentation Defects
Removing β-catenin in certain stem cells causes hair whitening and pigmentation issues.
research Generalized pruritus in primary sclerosing cholangitis: implications of histamine release by lysophosphatidic acid
A certain medication improved severe itching in a boy with liver and bowel disease by reducing histamine levels, suggesting a new treatment target.
research An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
research Expression of Keratin 75 (K6hf) in Oral Squamous Cell Carcinoma
Keratin 75 might be important in oral cancer progression.
research Crosslinking structure of keratin. V. Number and type of crosslinks in microstructures of untreated and potassium cyanide treated human hair
Potassium cyanide treatment changes hair's disulfide bonds, making it more elastic.