research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
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150-180 / 1000+ results research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research One of the best treatments for alopecia areata remains unpublished
DNCB is highly effective for treating alopecia areata with minimal long-term side effects.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research Cloning and Characterization of a Mouse Type I Hair Keratin cDNA
research Double Knockdown of the Androgen Receptor Target Genes DKK1 and SFRP1 Does Not Potentiate the Hair Growth-Promoting Effect of SFRP1 Silencing in Healthy Human Hair Follicles Ex Vivo
Silencing SFRP1 alone promotes hair growth, but adding DKK1 does not help.
research A 4kb Fragment of the Desmocollin 3 Promoter Directs Reporter Gene Expression to Parakeratotic Epidermis and Primary Hair Follicles
A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
research 441 Anti-melanoma gene signature in dermal sheath fibroblasts from scalp hair follicles in Recessive Dystrophic Epidermolysis Bullosa (RDEB)
research Identification and dissection of an enhancer controlling epithelial gene expression in skin
A specific DNA region controls skin cell gene expression by working with certain proteins.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research 0882 Patterning and regional specification of hairy skin
Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
research DGAT1 Modulates Hair Cycling and Is Essential for Retinoid Homeostasis in the Skin
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
research Inhibition of the development of metastatic squamous cell carcinoma in protein kinase C epsilon transgenic mice by alpha-difluoromethylornithine accompanied by marked hair follicle degeneration and hair loss.
Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis
Edar and Eda proteins are crucial for proper tooth development.
research DNA dioxygenases Tet2/3 regulate gene promoter accessibility and chromatin topology in lineage-specific loci to control epithelial differentiation
The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
research Role of sgk1 in cancer: a bibliometric analysis from 2013 to 2023—review article
SGK1 is important in cancer growth and treatment resistance, and targeting it could improve therapies.
research Characterization of Human Keratin-Associated Protein 1 Family Members
Mutations in hKAP1 genes may cause hereditary hair disorders.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Upadacitinib: A New Weapon for the Treatment of Twenty-Nail Dystrophy
Upadacitinib may effectively treat twenty-nail dystrophy without causing pain.
research 516 Dynein is involved in the movement, distribution, acidity, and transfer of melanosomes
Dynlt3 is important for melanosome transport and skin coloration.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research Skin features in myotonic dystrophy type 1: An observational study
People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.