research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
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210-240 / 1000+ results research Structure and Expression of a New Complementary DNA Encoding the almost Exclusive 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4-lsomerase in Human Adrenals and Gonads
Human adrenals and gonads have a unique enzyme for steroid hormone production.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research Evolution in action: highlighting a role for the Agouti gene in development?
The Agouti gene influences pigmentation and may have a developmental role in deer mice.
research 1397 LSD1 is critical for epidermal development and skin barrier formation
LSD1 is essential for healthy skin development and creating the skin's protective barrier.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research LSD1 is Required for Hair Cell Regeneration in Zebrafish
LSD1 is crucial for regenerating hair cells in zebrafish.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research Abstract 1835: Development of mammary hyperplasia, dysplasia, and invasive ductal carcinoma in transgenic mice expressing the 8p11 amplicon oncogene NSD3 (WHSC1L1)
Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
research HOXC8 initiates an ectopic mammary program by regulating Fgf10 and Tbx3 expression, and Wnt/β-catenin signaling
Hoxc8 gene helps start mammary gland development by controlling specific signals.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research CUBIC Protocol Visualizes Protein Expression at Single Cell Resolution in Whole Mount Skin Preparations
The CUBIC protocol allows detailed 3D visualization of proteins in mouse skin biopsies.
research High migratory activity of dermal sheath cup cells associated with the clinical efficacy of autologous cell-based therapy for pattern hair loss
Cells that move well may improve hair loss treatments by entering hair follicles.
research Generation of a Novel Inducible and Dermal Papilla‐Specific Wif1‐CreER Knock‐In Mouse Line for Hair Follicle Research
A new genetic tool improves the study of hair growth and potential hair disorder treatments.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research Hoxc13 and the development of hair follicle
Hoxc13 is essential for hair growth and follicle development.
research Inhibition of class I HDACs preserves hair follicle inductivity in postnatal dermal cells
Inhibiting class I HDACs helps maintain hair growth ability in skin cells.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
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 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research 320 Desmoglein 3-mediated mechanical transadhesion controls epithelial stem cell quiescence
Desmoglein 3 is important for keeping hair follicle stem cells inactive and maintaining their special properties.
research Identification of Transcripts Commonly Expressed in Both Hematopoietic and Germ-Line Stem Cells
Seven genes are highly expressed in both germ-line and hematopoietic stem cells.
research 848 Genes implicated in lipid & metabolic regulation downregulated in CCCA
848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
research Localization, Age- and Site-Dependent Expression, and Regulation of 11β-Hydroxysteroid Dehydrogenase Type 1 in Skin
Increased 11β-HSD1 activity in skin may contribute to aging and could be targeted to reduce aging effects.
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 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.