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780-810 / 1000+ resultsresearch A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
research Transcriptomic characterization of Lonrf1 at the single-cell level under pathophysiological conditions
LONRF1 is important for oxidative damage response and tissue remodeling during wound healing.
research Characters of KRT80 and its roles in neoplasms diseases
KRT80 may worsen cancer by increasing growth and spread, but its full effects on treatment and outcomes need more research.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Increased CRHR1 expression on monocytes from patients with AA enables a pro‐inflammatory response to corticotrophin‐releasing hormone
Higher CRHR1 levels in AA patients lead to increased inflammation.
research p63 regulates Satb1 to control tissue-specific chromatin remodeling during development of the epidermis
p63 controls Satb1 to help skin develop properly.
research Role of Stearoyl-CoA Desaturase-1 in Skin Integrity and Whole Body Energy Balance
SCD1 is crucial for skin health and overall energy balance.
research Vitamin D receptor-mediated control of Soggy, Wise, and Hairless gene expression in keratinocytes
Vitamin D receptor helps control hair growth genes in skin cells.
research Lrig1 Expression Defines a Distinct Multipotent Stem Cell Population in Mammalian Epidermis
Lrig1 marks a unique group of stem cells in mouse skin that can become different skin cell types.
research Protein Kinase C Epsilon Signals Ultraviolet Light‐induced Cutaneous Damage and Development of Squamous Cell Carcinoma Possibly Through Induction of Specific Cytokines in a Paracrine Mechanism¶
Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research 1496 Transcription factor SOX2-induced amphiregulin inhibits pressure ulcer formation via suppressing oxidative stress after cutaneous ischemia-reperfusion in mice
SOX2 helps reduce wound size and pressure ulcer formation by suppressing oxidative stress and increasing antioxidant activity in mice.
research Detection of lentiviral constructs for release testing of CAR- T cells using digital droplet PCR
The new ddPCR method reliably detects unwanted viruses in CAR-T cell products, ensuring their safety for patients.
research Joint Public Review: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
Meis2 is essential for touch sensation and nerve function in mice.
research Integrated single-cell RNA-sequencing data of unwounded and wounded mouse skin and fibroblasts.
The dataset includes detailed genetic information from mouse skin cells before and after injury.
research Integrated single-cell RNA-sequencing data of unwounded and wounded mouse skin and fibroblasts.
The dataset includes detailed genetic information from mouse skin cells before and after injury.
research Essential Role for Integrin-Linked Kinase in Melanoblast Colonization of the Skin
Integrin-linked kinase is crucial for melanoblasts to properly colonize the skin.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.
research Combined Deletion of the Vitamin D Receptor and Calcium-Sensing Receptor Delays Wound Re-epithelialization
Removing vitamin D and calcium receptors in mice skin cells slows down skin wound healing.
research 1373 Specific in vivo ablation of Lrig1-positive follicular stem cells results in sebaceous gland loss in mice
Removing Lrig1-positive stem cells in mice causes temporary loss of sebaceous glands.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Novel Drugs Targeting Retinoic Acid Receptors
Newer retinoid drugs are effective for skin conditions but have significant side effects.
research RAPID ALKALINIZATION FACTOR 22 is a key modulator of the root hair growth responses to fungal ethylene emissions in Arabidopsis
RALF22 is essential for root hair growth in response to fungal emissions in Arabidopsis.
research miR‐218‐5p regulates skin and hair follicle development through Wnt/β‐catenin signaling pathway by targeting SFRP2
miR-218-5p helps skin and hair growth by targeting SFRP2 and activating a specific signaling pathway.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Cirmcumscribed juvenile pityriasis rubra pilaris in a 5-year-old-girl treated with topical keratolytic and steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.