research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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390-420 / 1000+ resultsresearch Oxytocin Receptor Expression in Hair Follicle Stem Cells: A Promising Model for Biological and Therapeutic Discovery in Neuropsychiatric Disorders
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 Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Red organic light-emitting diodes based photobiomodulation therapy enabling prominent hair growth
Red OLED therapy significantly boosts hair growth.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research Structural optimization of pep7, a small peptide extracted from epimorphin, for effective induction of hair follicle anagen
Modified pep7, named EPM peptide, effectively promotes hair growth at low concentrations and works well with minoxidil.
research Selenoproteins Are Essential for Proper Keratinocyte Function and Skin Development
Selenoproteins are crucial for healthy skin and hair.
research The focal adhesion protein PINCH-1 associates with EPLIN at integrin adhesion sites
PINCH-1 is crucial for skin cell adhesion and movement, working with EPLIN and ILK.
research Acquired loss of hair pigment associated with a flexural dermatosis
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Inhibition of the Hippo pathway by verteporfin reduces the proliferation and stemness of rat hair follicle neural crest stem cells under hypoxia
Verteporfin reduces growth and stem cell traits in rat hair follicle cells by blocking the Hippo pathway.
research Different Applications of Monochromatic Excimer Light in Skin Diseases
Excimer light effectively treats various skin diseases, including psoriasis, vitiligo, and mycosis fungoides.
research PROCEEDINGS OF THE INTERNATIONAL CONGRESS "SCIENCE, INFORMATIN, SPIRIT" 2007, PP 28-35 ELECTRO PHOTONIC ANALYSIS OF HAIR AND NON HAIR FIBERS AND INVESTIGATION OF DIFFERENT HAIR TREATMENTS
Hair properties change under electromagnetic fields and are influenced by individual characteristics and the environment.
research Neurosteroids on the Epilepsy Chessboard—Keeping Seizures in Check
Ketogenic diet, neurosteroids, and HMGB1-TLR4 signaling pathway are potential targets for new epilepsy treatments.
research Characterization of Recombinant Human Liver Thermolabile Phenol Sulfotransferase with Minoxidil as the Substrate
Both enzyme forms can sulfate minoxidil.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Focal Photodamage on the Occipital Scalp
Baseball caps don't fully protect bald spots on the back of the head from sun damage; wear wide-brimmed hats or use sunscreen.
research Possible involvement of 5α-reduced neurosteroids in adrenergic and serotonergic stimulation of GFAP gene expression in rat C6 glioma cells
5α-reduced neurosteroids may help regulate glial cell differentiation.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research POPPER MACULOPATHY: LONG-TERM FOLLOW-UP AND CASE SERIES
Using poppers can cause vision problems, but stopping their use might lead to complete recovery over time.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research The complex relationship between TFEB transcription factor phosphorylation and subcellular localization
Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
research Angle closure in fellow eye with prophylactic pilocarpine treatment
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Temporal lobe epilepsy exacerbation during pharmacological inhibition of endogenous neurosteroid synthesis
Stopping finasteride improved seizure control, suggesting neurosteroids affect seizures and treatment.
research The Expression of Vitamin D-Upregulated Protein 1 in Skin and its Interaction with Sciellin in Cultured Keratinocytes
VDUP1 is found in skin and hair follicles, interacts with sciellin, and may help regulate skin cell differentiation.
research Neurosteroids Are Endogenous Neuroprotectants in an Ex Vivo Glaucoma Model
A natural steroid in the body may protect against eye damage in glaucoma.