research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
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research Polymorphism of genes in patients with new coronavirus infection COVID-19
Genetic differences affect COVID-19 severity and treatment effectiveness.
research A Mouse Model for Conditional Expression of Activated β-Catenin in Epidermal Keratinocytes
Activated β-catenin affects hair growth and skin thickness, and changes are reversible.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research FoxN1 in K14 promoter-driven epithelium is required for generation and maintenance of 3D-thymus medulla and preventing nude phenotype in the skin (36.33)
FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
research Does Nicastrin Inadequacy Cause Melanocytotoxicity in Human Skin as in the Fish Counterpart?
Nicastrin deficiency may cause skin cell damage and pigmentation disorders in humans, similar to effects seen in fish.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Animal models of human skin disease
Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
research egfl6 expression in the pharyngeal pouch is dispensable for craniofacial development
Egfl6 is not needed for zebrafish face development.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Deletion of an enhancer in FGF5 is associated with ectopic expression in goat hair follicles and the cashmere growth phenotype
A genetic change in the FGF5 gene affects hair growth in cashmere goats.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is essential for proper hair structure and color.
research The occurrence of the ε-(γ-glutamyl)lysine cross-link in the medulla of hair and quill
research Highly Conserved Keratin-Associated Protein 7-1 Gene in Yak, Taurine and Zebu Cattle
The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Conditional knock out of N-WASP in keratinocytes causes skin barrier defects and atopic dermatitis-like inflammation
N-WASP is essential for healthy skin and preventing inflammation.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women
The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research The HPV16 oncogenes cause aberrant stem cell mobilization
HPV16 oncogenes disrupt the normal activity of hair follicle stem cells.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Generation of a Novel Inducible and Dermal Papilla‐Specific Wif1‐CreER Knock‐In Mouse Line for Hair Follicle Research
A new genetic tool improves the study of hair growth and potential hair disorder treatments.