research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
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210-240 / 1000+ resultsresearch Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research Increased expression of Ectodysplasin A2 Receptor EDA2R is the most remarkable and ubiquitous aging-related transcriptional hallmark
The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
research Aceclofenac-induced erythema annulare centrifugum
A woman got a skin rash from taking aceclofenac, which went away after she stopped the drug.
research Abstract 2205: KRTAP 2-3 is a novel potential biomarker of cells in the polyaneuploid cancer cell (PACC) state to predict cancer recurrence
KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
research Polymer conjugated retinoids for controlled transdermal delivery
A new method allows for controlled, long-lasting delivery of retinoic acid through the skin with fewer side effects.
research In vivo expression of VCAM1 precedes nephron loss following kidney tubular necrosis
VCAM1 appears early in kidney injury and signals future nephron loss.
research Acitretin-Altered Squamous Cell Carcinoma
research Cancer vaccine strategies and studies of human thioredoxin reductase splice variants
Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
research Implementing Outpatient Screening of Adult Patients at High Risk for Peripheral Artery Disease
Integrating ABI screening in clinics can improve patient care for those at risk of peripheral artery disease.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research Diagnostic Role of Anterior Segment Optical Coherence Tomography in an Atypical Presentation of Varicella Zoster Virus Interstitial Keratitis: A Case Report
AS-OCT is crucial for diagnosing VZV interstitial keratitis and avoiding unnecessary treatments.
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research Melanocortin receptor type 2 (MC2R, ACTH receptor) expression in patients with alopecia areata
Lower MC2R expression may contribute to alopecia areata.
research In vivo function of VDR in gene expression-VDR knock-out mice
Vitamin D receptor is crucial for bone health and mineral metabolism.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivo
CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Phosphatidylinositol‐specific phospholipase C2 functions in auxin‐modulated root development
A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
research Extracellular ATP and Adenosine Signaling in Arabidopsis: Investigating Cellular Modulation
Extracellular ATP promotes growth, while adenosine inhibits it in Arabidopsis plants.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Wiederbehaarung bei einem Patienten mit Alopecia universalis und Psoriasis vulgaris unter Deucravacitinib‐Therapie
Deucravacitinib helped a man regrow hair and improve psoriasis.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research A randomized controlled clinical trial of recombinant interferon α‐2b in the treatment of acute post‐transfusion hepatitis C: A preliminary report
Interferon α‐2b can temporarily reduce hepatitis C virus and normalize liver enzyme levels.
research Hair regrowth in a patient with alopecia universalis and psoriasis vulgaris during deucravacitinib therapy
Deucravacitinib helped a man regrow hair significantly.
research Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice
Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
research Genetic Upregulation of Activated Protein C Mitigates Delayed Effects of Acute Radiation Exposure in the Mouse Plasma
Activated protein C helps protect mice from radiation damage.