research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
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research The promoter of an androgen dependent gene in the hamster flank organ
Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research 102 EZH2 is required for human hair follicle growth and epidermal differentiation
EZH2 is essential for hair growth and skin cell development.
research Cutaneous transcriptome analysis in NIH hairless mice
Key genes linked to hair growth and cancer were identified in hairless mice.
research GATA3 inhibits proliferation and induces expression of both early and late differentiation markers in keratinocytes of the human epidermis
research Identification of differentially expressed genes HSPC016 in dermal papilla cells with aggregative behavior
HSPC016 gene is important for hair growth.
research In Silico Promoter Motif Analysis of Human Fertility-Related Genes
The study found potential new DNA patterns in fertility genes, but further testing is needed.
research 1381 Investigating the role of Mef2c in hair follicle cycling
MEF2C is crucial for normal hair cycle progression.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research URB expression in human dermal papilla cells
The gene URB is more active in human hair growth cells and responds to a hair-related hormone.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Multiple Roles of Integrin-Linked Kinase in Epidermal Development, Maturation and Pigmentation Revealed by Molecular Profiling
ILK is essential for skin development, pigmentation, and healing.
research Butyrophilin-like 2 (BTNL2) to the Rescue: controlling autoaggressive dermal gamma delta (GD) T lymphocytes in human hair follicles (HFs) 3747
BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
research Regulation of human dermal papilla cell production of insulin-like growth factor binding protein-3 by retinoic acid, glucocorticoids, and insulin-like growth factor-1
Retinoic acid, glucocorticoids, and IGF1 increase IGFBP-3 production in human dermal papilla cells, affecting hair growth.
research Tfap2b specifies an embryonic melanocyte stem cell that retains adult multi-fate potential
The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Increased Rate of Hair Regrowth in Mice with Constitutive Overexpression of Del1
Mice genetically modified to produce more Del1 protein had faster hair regrowth.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research Transforming Growth Factor-β Receptor Type I and Type II Expression During Murine Hair Follicle Development and Cycling
research IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome
Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.
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 Innate type 2 immunity controls hair follicle commensalism by Demodex mites
Type 2 immunity helps control mite growth in hair follicles, preventing damage.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research Activation of mitochondrial aldehyde dehydrogenase 2 promotes hair growth in human hair follicles
Activating ALDH2 can boost hair growth.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.