research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
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900-930 / 1000+ resultsresearch A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
A mutation in the Sgkl gene causes defective hair growth in mice.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Impaired osteoblastic differentiation, reduced bone formation, and severe osteoporosis in noggin-overexpressing mice
Overexpressing noggin in mice causes severe osteoporosis.
research Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Prognosis, treatment, and disease outcomes in frontal fibrosing alopecia: A retrospective review of 92 cases
Most patients with frontal fibrosing alopecia stabilized with treatment, especially younger ones, using intralesional corticosteroids and tacrolimus.
research Photobiomodulation: The Clinical Applications of Low-Level Light Therapy
Low-Level Light Therapy (LLLT) is a safe and effective method for skin rejuvenation, acne treatment, wound healing, body contouring, and hair growth, but more well-designed trials are needed for confirmation.
research The periosteal requirement and temporal dynamics of BMP2‐induced middle phalanx regeneration in the adult mouse
BMP2 needs periosteal tissue to help regenerate mouse middle finger bones within a specific time.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Exercise activates the PI3K-AKT signal pathway by decreasing the expression of 5α-reductase type 1 in PCOS rats
Exercise improves insulin sensitivity and hormone regulation in PCOS rats.
research 12 Treatment of hirsutism with 5α-reductase inhibitors
New compounds may soon be tested to treat excessive hair growth in women.
research ALOE VERA IN THE TREATMENT OF ROENTGEN ULCERS AND TELANGIECTASIS
Aloe vera healed severe skin damage and restored normal skin in five weeks.
research Hair as an Indicator of the Calcium and Phosphorus Status of Ponies1
Hair analysis can't determine ponies' calcium and phosphorus levels; use soil and feed tests instead.
research Increased risk of fractures in patients with polycystic ovary syndrome: a nationwide population-based retrospective cohort study
Women with polycystic ovary syndrome have a higher risk of certain fractures.
research Identifying molecular targets for reverse aging using integrated network analysis of transcriptomic and epigenomic changes during aging
Curcumin may help reverse aging by targeting specific genes.