research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
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research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Gastroparesis - a novel cause of persistent thyroid stimulating hormone elevation in hypothyroidism.
Gastroparesis can cause persistent TSH elevation in hypothyroidism despite treatment.
research Data from Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Clinical Snippets
Topical Imiquimod may fight vascular tumors by affecting blood vessels or the immune system, low iron might be linked to some hair loss, removing the top skin layer helps vitamin C get in, genetic testing helps diagnose skin conditions, and too much iron could worsen skin inflammation.
research Incidence of Congenital Goitre in Goats, in and Around Hyderabad, India
Congenital goitre in goats near Hyderabad is linked to iodine deficiency and can be treated effectively with medication.
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 Expression of a dominant negative mutant of epidermal growth factor receptor in the epidermis of transgenic mice elicits striking alterations in hair follicle development and skin structure.
Blocking EGFR in mice causes hair loss and skin changes.
research Dual deficiency of melatonin and dihydrotestosterone promotes stromal cell damage and mediates prostatitis via the cGAS-STING pathway in sleep-deprived mice
Lack of sleep in mice leads to prostatitis by reducing certain hormones and activating an inflammatory pathway, which can be temporarily fixed with normal sleep.
research Methylmalonic Acidemia: Can Treatment be Improved?
Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
research Alopecia areata incognito: A rare cause of hair loss in children
Alopecia areata incognito in children can be effectively treated with triamcinolone acetonide and supplements, leading to full hair regrowth.
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 High-throughput T cell receptor sequencing identifies clonally expanded CD8+ T cell populations in alopecia areata
CD8+ T cells are involved in alopecia areata and may cause disease relapse.
research 528 Serotonin modulation improves cutaneous wound healing
Serotonin helps wounds heal faster.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research TAZ enhances the activity of the AKT signaling pathway to promote adipogenesis of gADSCs
TAZ boosts fat cell formation in goat stem cells by activating a specific signaling pathway.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
research Author response: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for pH balance and normal cell function in plants.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
research Getting to the root of hair loss in alopecia
Specific immune cells cause alopecia areata and blocking certain proteins can prevent it.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research PC038: A rare case of strawberry gingivitis associated with Granulomatosis with polyangiitis - GPA (Wegener granulomatosis)
A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.
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 Dacomitinib-Induced Paronychia Associated With PRIDE Syndrome in a Patient With Non-Small Cell Lung Cancer
Dacomitinib can cause nail and skin issues, but these can be managed without stopping the drug.
research Impaired responses of peripheral blood mononuclear cells to T-cell stimulants in alopecia areata patients with a poor response to topical immunotherapy
Poor response to topical immunotherapy in alopecia areata patients is linked to impaired cell responses.
research Nuclear Factor I-C Regulates TGF-β-dependent Hair Follicle Cycling*
Nuclear Factor I-C is important for controlling hair growth by affecting the TGF-β1 pathway.