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research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research 피부 발육과정에서 데스모콜린 1의 발현에 관한 면역조직화학적 연구
Desmocollin 1 helps maintain skin structure during fetal development.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Interaction between stem cell factor and endothelin-1: effects on melanogenesis in human skin xenografts
SCF and ET-1 together significantly increase skin pigmentation and melanin production.
research The targeted overexpression of a Claudin mutant in the epidermis of transgenic mice elicits striking epidermal and hair follicle abnormalities
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Complications and Limitations of Melanocyte Transplantation
Melanocyte transplantation can safely restore skin color, especially in stable vitiligo, but must be chosen carefully based on the disease phase.
research Melanocyte Stem Cell Maintenance and Hair Graying
Hair graying happens because certain cells aren't maintained properly.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Mitochondrial deoxyguanosine kinase depletion induced ROS causes melanocyte stem cell exhaustion and hair greying
Lack of a certain enzyme causes hair to grey early by damaging stem cells, but an antioxidant can help prevent this.
research Koebnerization secondary to microblading
A woman developed vitiligo from repeated eyebrow microblading.
research Lgr5+ stem cells and their progeny in mouse epidermis under regimens of exogenous skin carcinogenesis, and their absence in ensuing skin tumors
Lgr5+ stem cells do not cause skin tumors.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Multisystemic eosinophilic epitheliotropic disease in a horse in Brazil
A horse in Brazil with skin and gut issues was diagnosed with a severe disease and had to be euthanized.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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 Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Hydrophilic melanin as a potential hair growth stimulant: A secondary observational study
Hydrophilic melanin may help hair grow by improving blood flow and regeneration.
research Sox9 expression in canine epithelial skin tumors
Sox9 is present in most canine skin tumors and may help understand stem cells' role in these cancers.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
research Update on Melasma—Part I: Pathogenesis
Melasma's causes include genetics, sun exposure, hormones, and oxidative stress, and understanding these can help create better treatments.