research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
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870-900 / 1000+ resultsresearch The Tumor Suppressor Actions of the Vitamin D Receptor in Skin
Vitamin D receptor helps prevent skin tumors.
research LHX2: a transcription factor in development, homeostasis, repair, and disease
LHX2 is crucial for development, tissue repair, and preventing diseases.
research Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness
A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research One Transgene: Two Outcomes
Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Fine mapping of the human AR/EDA2R locus in androgenetic alopecia
Genetic marker rs12558842 strongly linked to male hair loss.
research The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research Unusual progression of renal cell carcinoma with carcinomatosis peritoneii and Krukenberg tumour and alopecia with sunitinib therapy in young female
A young woman with kidney cancer experienced rare hair loss from a cancer drug and unusual cancer spread, suggesting early drug treatment might reduce spread and prolong survival.
research SUN-911 Immunotherapy Use in Adrenocortical Carcinoma with Encouraging Results- a Case Report
Immunotherapy with pembrolizumab significantly reduced cancer in a young woman with adrenocortical carcinoma.
research Synchronizing actin and microtubules for axonal branching
Certain proteins help nerve cells branch, and other findings relate to cancer, stem cell behavior, and cell division.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
AP-1 controls tumor cell type by affecting key signaling pathways.
research A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients
A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
research Identification of Pygopus 2 as a component of the ribosomal RNA transcription complex in cancer
Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research Generation of the Krt24-CreERT2 Mouse Line Targeting Outer Bulge Hair Follicle Cells
The study created a mouse model to better understand hair follicle stem cells' role in hair growth and repair.
research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research Epidermolysis Bullosa in Calves in the United Kingdom
Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research 647 Alternative splicing factor Esrp1 controls homeostasis of skins by regulating barrier formation and function
Esrp1 is important for skin health by helping form and maintain the skin barrier.
research Human Papillomavirus E6/E7 Oncogenes Promote Mouse Ear Regeneration by Increasing the Rate of Wound Re-epithelization and Epidermal Growth
HPV genes in mice improve ear tissue healing by speeding up skin growth and repair.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Multiple endocrine defects in adult-onset Sprouty1/2/4 triple knockout mice
Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
research hsa_circ_0002980 prevents proliferation, migration, invasion, and epithelial-mesenchymal transition of liver cancer cells through microRNA-1303/cell adhesion molecule 2 axis
hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.
research Author response: Coordinated hedgehog signaling induces new hair follicles in adult skin
Hedgehog signaling can create new hair follicles in adult skin but may increase cancer risk.
research Solid basal cell epithelioma (BCE) possibly originates from the outer root sheath of the hair follicle.
Basal cell epithelioma likely starts from the hair follicle's outer root sheath.