research Keratin 17 in disease pathogenesis: from cancer to dermatoses
Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
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research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research O04 HPV8 E6 leads to Lrig1+ keratinocyte stem cell expansion
HPV8 E6 gene causes growth of certain skin stem cells.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Gene profile analysis of colorectal cancer cell lines by cDNA macroarray
Colorectal cancer's ability to spread is due to changes in many genes, not just one.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Establishment and Characterization of Immortalized Human Dermal Papilla Cells Expressing Human Papillomavirus 16 E6/E7
Immortalized human dermal papilla cells were created that grow better and can still help form hair.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Roles of Wnt7a in embryo development, tissue homeostasis, and human diseases
Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
research Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment
Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research 277 HPV8 E6 induced STAT3 activation leads to hair follicle junctional zone keratinocyte stem cell proliferation and expansion in actinic keratoses
HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
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 Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Wnt7a can up-regulates cell adhesion related protein fibronectin expression and promotes cell proliferation in corneal epithelial cells
Wnt7a helps corneal cells grow and stick together, aiding in repair.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Abstract 2205: KRTAP 2-3 is a novel potential biomarker of cells in the polyaneuploid cancer cell (PACC) state to predict cancer recurrence
KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women
A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
research Association of HSPA1B SNP rs6457452 with Alopecia Areata in the Korean Population
The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Deregulated expression of E2F1 induces hyperplasia and cooperates with ras in skin tumor development
Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.