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research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research CD98hc (SLC3A2) regulation of skin homeostasis wanes with age
CD98hc's role in skin health decreases with age.
research The Use of Janus Kinase Inhibitors for Primary Neutrophilic Cicatricial Alopecias
Janus kinase inhibitors may effectively treat resistant scalp conditions like folliculitis decalvans and dissecting cellulitis.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research Venus trap in the mouse embryo reveals distinct molecular dynamics underlying specification of first embryonic lineages
Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
research Elevated ornithine decarboxylase activity promotes skin tumorigenesis by stimulating the recruitment of bulge stem cells but not via toxic polyamine catabolic metabolites
Increased ODC activity leads to skin tumors by recruiting stem cells, not by toxic byproducts.
research 43647 Treatment of Refractory Folliculitis Decalvans with the Topical JAK Inhibitor Tofacitinib
Topical tofacitinib helped a man with severe scalp condition after other treatments failed.
research UTMD Enhances Targeting of Diclofenac and Doxil® to Boost Tumor Immunotherapy
UTMD with diclofenac and Doxil® improves cancer treatment by boosting immune response and reducing tumor-supporting cells.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research 054 Deep Analysis of CD4+ Trm Cells in Normal and Atopic Dermatitis Human Skin
Certain immune cells in atopic dermatitis skin could be targeted for treatment.
research Epithelial loss of mitochondrial oxidative phosphorylation leads to disturbed enamel and impaired dentin matrix formation in postnatal developed mouse incisor
Mitochondrial problems in tooth cells lead to bad enamel and dentin development in mice.
research Autonomous, Moisture‐Driven Flexible Electrogenerative Dressing for Enhanced Wound Healing
The dressing speeds up wound healing by 41% using moisture-generated electricity and antibacterial properties.
research Devices and genomic therapies
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research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
research CLINICAL SPECTRUM AND IMMUNOLOGICAL PROFILE OF PATIENTS WITH MIXED CONNECTIVE TISSUE DISEASE PRESENTING IN A TERTIARY CARE HOSPITAL
Early treatment of mixed connective tissue disease is crucial to prevent severe autoimmune conditions.
research P718 Observational real-world evidence on the efficacy and safety of Janus Kinase inhibitors (JAKi) in the treatment of moderate to severe Active Ulcerative Colitis (UC)
Janus Kinase inhibitors are effective and have an acceptable safety profile for treating moderate to severe Ulcerative Colitis.
research Case of follicular mucinosis: Nestin‐expression in mucin‐producing cells
A 29-year-old man had a jaw plaque diagnosed as follicular mucinosis, linked to nestin-positive hair follicle stem cells.
research JCCP: a personal and professional journey
The author now supports the JCCP's efforts to improve non-surgical aesthetic practices after initial skepticism.
research Mammographies
Mammograms are important for detecting breast cancer early.
research President's message
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research NEDD4 and NEDD4L regulate Wnt signalling and intestinal stem cell priming by degrading LGR5 receptor
NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
research Human Wharton’s Jelly Mesenchymal Stem Cells Plasticity Augments Scar-Free Skin Wound Healing with Hair Growth
Wharton’s Jelly stem cells from the umbilical cord improve skin healing and hair growth without scarring.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Divergent roles of HDAC1 and HDAC2 in the regulation of epidermal development and tumorigenesis
HDAC1 is crucial for skin development and preventing tumors.