research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
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research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats
The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
research The Use of Ovarian Vein Sampling to Lateralize a Virilizing Leydig Cell Ovarian Tumor
Ovarian vein sampling can effectively locate ovarian tumors when imaging is unclear.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Transcutaneous Auricular Vagus Nerve Stimulation Alleviates Monobenzone-Induced Vitiligo in Mice
taVNS reduces vitiligo symptoms in mice.
research Mechanisms of vascular maturation and maintenance captured by longitudinal imaging of live mouse skin
Neonatal blood vessels rearrange and stabilize as adults, with adult vessels better at self-repair after injury.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research A randomized, controlled clinical trial of autologous stromal vascular fraction cells transplantation to promote mechanical stretch-induced skin regeneration
SVF cell transplantation improves skin regeneration safely.
research Combination Of Regulatory T Cells and Rapamycin As Treatment For Experimental Chronic Graft-Versus-Host Disease
Using regulatory T cells and Rapamycin together improves chronic graft-versus-host disease treatment outcomes in mice.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome
research Olig2 positive cells derived from hair follicle neural crest stem cells in rats
Researchers found a way to make rat hair follicle cells start turning into motor neuron-like cells, but couldn't fully turn them into working motor neurons.
research A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients
A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
research The features of onychomatrimas on in vivo reflectance confocal microscopy
Reflectance confocal microscopy can noninvasively diagnose onychomatricoma by showing unique features different from healthy nails or nail fungus.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research MSC-EVs and UCB-EVs promote skin wound healing and spatial transcriptome analysis
MSC-EVs and UCB-EVs improve skin wound healing and reduce scarring.
research Recurrent inverse necrotizing infundibular crystalline folliculitis
Recurrent NICF is a rare skin condition with unclear causes, involving follicle inflammation and crystal deposits.
research Pre-clinical non-viral vectors exploited forin vivoCRISPR/Cas9 gene editing: an overview
Non-viral vectors show promise for safe and effective CRISPR/Cas9 gene editing in treating diseases.
research 127 NDRG1 regulates proliferation of endothelial cells of infantile hemangioma
NDRG1 protein helps infantile hemangioma, a common infant tumor, to grow, and its mismanagement by FOXO1 protein plays a big role in causing the tumor.
research A Novel Role of IL-17+ Cell Subsets in Ross River Virus-Induced Arthritic Disease
Blocking IL-17 can reduce joint inflammation in Ross River Virus infections.
research Human epidermal neural crest stem cells as candidates for cell-based therapies, disease modeling, and drug discovery
Human epidermal neural crest stem cells could be used for therapies, drug discovery, and disease modeling.
research Central Centrifugal Cicatricial Alopecia
CCCA is a common, scarring hair loss in Black women that needs early detection.
research Nanospanlastic vesicles as novel strategies for enhancing anti-glaucoma drug bioavailability
Nanospanlastic vesicles can improve glaucoma treatment by enhancing drug delivery to the eye.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Cerebral vasculitis as a severe complication of acute infectious meningoencephalitis—a case series of five different pathogens
Infectious cerebral vasculitis can be a severe complication of meningoencephalitis, regardless of the pathogen.
research S88 Does cone beam computed tomography decrease CTV's margins in prostate cancer radiation treatment?
Cone beam computed tomography can allow for smaller safety margins around the target area in prostate cancer radiation treatment if used for ongoing treatment checks.