research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
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research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Intrauterine Insemination
research 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes
Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
research Epidermal and hair follicle trans glutaminases and crosslinking in skin
research Concerted gene duplications in the two keratin gene families
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research 689 Cell-type-specific nascent transcriptomics through PRECISE-seq reveal molecular principles of tissue dynamics
research Immunolocalization of junctional proteins in human hairs indicates that the membrane complex stabilizes the inner root sheath while desmosomes contact the companion layer through specific keratins
Junctional proteins stabilize the inner root sheath and connect the companion layer in human hair.
research The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions
Tight junctions help control skin shedding and may be targets for treating certain skin conditions.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research The mechanisms and functions of interorganelle interactions
Different parts of cells interact at specific areas to control cell functions like energy production and fat storage.
research LB1081 Three-dimensional imaging of tight junction-network across multiple layers of human epidermis by array tomography using backscattered electron-mode scanning electron microscopy
The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.
research 647 Alternative splicing factor Esrp1 controls homeostasis of skins by regulating barrier formation and function
Esrp1 is important for skin health by helping form and maintain the skin barrier.
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 Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Roles of jumonji and jumonji family genes in chromatin regulation and development
Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Intra-host SARS-CoV-2 single-nucleotide variants emerged during the early stage of COVID-19 pandemic forecast population fixing mutations
Some early COVID-19 mutations in patients predicted future common virus mutations.
research Epidermal and hair follicle transglutaminases and crosslinking in skin
research Hard Keratin IF and Associated Proteins
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research Connexin mutations in human disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
research Transglutaminase-mediated cross-linking in mammalian epidermis
research Intestinal Intraepithelial Lymphocytes: Sentinels of the Mucosal Barrier
Intestinal intraepithelial lymphocytes are crucial for gut immunity and maintaining the mucosal barrier.
research Scalp Reduction in the Treatment of Androgenic Alopecia
Scalp reduction can treat severe hair loss, but success depends on scalp flexibility and it may cause complications like pain, infection, and cosmetic issues.
research Mechanical Instability of Adherens Junctions Overrides Intrinsic Quiescence of Hair Follicle Stem Cells
Weak cell junctions disrupt hair follicle stem cell rest.
research Epidermal Stem Cells do not Communicate Through Gap Junctions
Epidermal stem cells don't use gap junctions to communicate.
research Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids
The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.