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960-990 / 1000+ resultsresearch STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Intermediate hair follicles: a new more clinically relevant model for hair growth investigations
Intermediate hair follicles are a better model for studying hair growth and testing hair loss treatments.
research PINK1 deficiency rewires early immune responses in a mouse model of Parkinson’s disease triggered by intestinal infection
PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
research 1392 Activation of Id2 gene regulatory network ruling quiescence of hair follicle stem cells
Id2 gene helps keep hair follicle stem cells inactive.
research Etude des multiples rôles des phosphatidylinositol-4-kinases betas dans la morphogenèse et les réponses de défense d'Arabidopsis thaliana
Phosphatidylinositol 4-kinases are crucial for root growth, defense, and immunity in Arabidopsis thaliana.
research Diagnostic value of the diagonal earlobe crease in combination with lipoprotein(a) in coronary heart disease
Diagonal earlobe crease and lipoprotein(a) together help diagnose coronary heart disease.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research A New Immune-Biochemical Study To Identify Indicators Of The Response Of Infertile Polycystic Ovary Syndrome Patients To Metformin Treatment
CLEC10A and interleukin-42 can help identify PCOS patients' response to Metformin treatment.
research XEDAR activates the non-canonical NF-κB pathway
XEDAR triggers a specific signaling pathway in cells.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study mapped genetic variations in sheep, linking them to traits like milk production and growth.
research The occurrence of the ε-(γ-glutamyl)lysine cross-link in the medulla of hair and quill
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Nail, hair and skin hyperpigmentation associated with indinavir therapy
Indinavir therapy can cause reversible skin, hair, and nail darkening.
research Non-canonical Wnt signaling promotes directed migration of intestinal stem cells to sites of injury.
Special gut cells help stem cells move to and fix injured areas by activating a specific signaling pathway.
research Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis
Edar and Eda proteins are crucial for proper tooth development.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Special collection on inward rectifying K+ channels
Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
research Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of Foxn1 in Thymic Epithelial Cells
A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
research Genome Wide Differential Expression Profiles in Nevus Sebaceous Uncovered Low Expression of CDKN2AIP and Construction of a ceRNA Network
CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
research Quantitation of human mitochondrial DNA and whole mtGenomes sequencing of fingernail/hair shaft samples
Mitochondrial DNA from nails and hair can be effectively analyzed for forensic use.
research 332 OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity
ILC1-like cells can cause alopecia areata by affecting hair follicles.
research The Synthesis of 2,2-BIS(1-INDOL-3-YL)Acenaphthylene-1(2)-Ones Using Nanocatalysis: Fluorescent Sensing for Cu2+ Ions
A new compound was made to detect copper ions effectively.
research The targeted overexpression of a Claudin mutant in the epidermis of transgenic mice elicits striking epidermal and hair follicle abnormalities
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms
Scientists discovered two versions of a new human hair keratin gene.
research Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
research Decision letter: Involvement of ILC1-like innate lymphocytes in human autoimmunity, lessons from alopecia areata
ILC1-like cells may contribute to hair loss in alopecia areata and could be new treatment targets.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.