research Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
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120-150 / 1000+ resultsresearch 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research The Rho GTPase regulator ARHGEF3 orchestrates hair placode budding by coordinating cell fate and P-cadherin patterning in mice
ARHGEF3 is essential for proper hair follicle development in mice.
research Conditional Knockout in Mice Reveals the Critical Roles of Ppp2ca in Epidermis Development
PP2Acα is essential for proper hair and skin development.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus
The Apc gene is crucial for normal skin and thymus development.
research Dermal EZH2 simultaneously orchestrates Wnt/β-catenin signaling dependent dermal differentiation and retinoic acid signaling dependent epidermal proliferation during murine skin development
Ezh2 controls skin development by balancing signals for dermal and epidermal growth.
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 A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer
New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
research The Mixed Lineage Kinase Leucine-Zipper Protein Kinase Exhibits a Differentiation-Associated Localization in Normal Human Skin and Induces Keratinocyte Differentiation upon Overexpression
ZPK helps skin cells mature and may affect skin health.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research The BLMP-1 transcription factor promotes oscillatory gene expression to achieve timely molting
BLMP-1 is important for regular molting and gene expression cycles in worms.
research Topobiology of Human Pigmentation: P-Cadherin Selectively Stimulates Hair Follicle Melanogenesis
P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
research cDermo-1 misexpression induces dense dermis, feathers, and scales
cDermo-1 causes dense skin, feathers, and scales in chickens.
research Conjoint analysis of methylation, transcriptomic, and proteomic profiles in pemphigus vulgaris
Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
research Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, p2y5/LPA6
p2y5, now called LPA6, is a receptor important for human hair growth.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.
Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
research LHX2 is a direct NF-κB target gene that promotes primary hair follicle placode down-growth
LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Synthesis of porcine pCLCA2 protein during late differentiation of keratinocytes of epidermis and hair follicle inner root sheath
pCLCA2 protein may help maintain skin structure and function.
research Deciphering the Mesodermal Potency of Porcine Skin-Derived Progenitors (SKP) by Microarray Analysis
Pig skin cells can turn into mesodermal cells but lose their ability to become neural cells.
research Plakophilin 1 suppresses keratinocyte innate immune responses through DExD/H helicases
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
research Phospholipase C‐δ1 is an essential molecule downstream of Foxnl, the gene responsible for the nude mutation, in normal hair development
Phospholipase C-δ1 is crucial for normal hair development.
research egfl6 expression in the pharyngeal pouch is dispensable for craniofacial development
Egfl6 is not needed for zebrafish face development.
research Dermal EZH2 orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell development and hair growth in mice.