research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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480-510 / 1000+ resultsresearch Disturbed Epidermal Structure in Mice with Temporally Controlled Fatp4 Deficiency
Fatp4 is crucial for healthy skin development and function.
research Molecular mechanism for transcriptional regulation of the parathyroid hormone gene by Epiprofin
Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
research Treatment of erythromelanosis follicularis faciei et colli with a 595‐nm pulsed dye laser
The 595-nm pulsed dye laser effectively reduces symptoms of EFFC with minimal side effects.
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 METTL1-mediated m7G tRNA modification drives papillary thyroid cancer progression and metastasis by regulating the codon-specific translation of TNF-α
Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
research Comparison of two methods for isolation and culture of human foreskin fibroblasts.
EDM is better for isolating and growing human foreskin fibroblasts, and PPP helps repair UVB damage.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
A gene mutation in mice causes severe skin disorder similar to a human condition.
research The successful treatment of nephrogenic fibrosing dermopathy (NFD) with mycophenolate mofetil (MMF)
Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
research Tebentafusp-tebn (Kimmtra®)
Tebentafusp-tebn improves survival rates in uveal melanoma patients but has common side effects like rash and fatigue.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research USE OF TOFACITINIB IN DIFFICULT TO TREAT CLINICALLY AMYOPATHIC DERMATOMYOSITIS
Tofacitinib may effectively treat skin symptoms in difficult cases of dermatomyositis.
research 874 Chromatin architectural protein CTCF controls epidermal barrier formation, hair follicle fate maintenance and suppresses inflammatory responses in the skin epithelium
The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research In vivo multiphoton microscopy imaging of vitiligo (Conference Presentation)
Multiphoton microscopy helps understand and improve vitiligo treatments by visualizing skin cell changes.
research Protein kinase Cepsilon is linked to 12-O-tetradecanoylphorbol-13-acetate-induced tumor necrosis factor-alpha ectodomain shedding and the development of metastatic squamous cell carcinoma in protein kinase Cepsilon transgenic mice.
Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis
research 1367 Inhibition of the mitochondrial pyruvate carrier promotes ATF4–dependent stress responsive metabolic rewiring and cell cycle arrest in the human hair follicle
Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
research 591 Chromatin architectural protein CTCF regulates terminal keratinocyte differentiation in the developing epidermis and hair follicles
CTCF protein is essential for skin and hair follicle development in mice.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research 1250 Development of an ex vivo human skin explant model to examine candidate gene functions in the hair follicle and epidermis
The model can effectively test gene functions and drug responses in human skin.
research Spurious Tetracycline Fluorescence in Hair
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Folliculotropic mycosis fungoides following renal transplantation
A man developed a skin cancer called folliculotropic mycosis fungoides after a kidney transplant.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research 1454 Identification of Fetuin A as a potential modulator of scar formation
Fetuin A may increase collagen production and promote scarring.