research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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540-570 / 1000+ resultsresearch Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity
PCOS diagnosis and treatment should consider race and ethnicity for accuracy.
research Integrated Business Intelligent System for E-Health: A Case for Dermatology Diseases
The document's conclusion cannot be provided because the content is not available to parse.
research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
research 17β-Estradiol Increases APE1/Ref-1 Secretion in Vascular Endothelial Cells and Ovariectomized Mice: Involvement of Calcium-Dependent Exosome Pathway
17β-estradiol boosts APE1/Ref-1 secretion in cells and mice via a calcium-dependent pathway.
research Das idiopathische chronische Telogeneffluvium der Frau
Idiopathic chronic telogen effluvium in women causes sudden hair loss without a known cause, often linked to emotional distress.
research Erosive pustular dermatosis of the scalp: A case report
Timely treatment of EPDS can reduce scarring.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Rapid full engraftment and successful immune reconstitution after allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning in Omenn syndrome
A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
research Cutaneous Lupus Erythematosus
Cutaneous lupus erythematosus is a common skin condition in lupus, affecting mostly young adult females.
research 778 Designing and utilizing a c-Rel specific bioassay in drug repurposing screen for HNSCC
A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research When one size does not fit all: Reconsidering PCOS etiology, diagnosis, clinical subgroups, and subgroup-specific treatments
Different types of PCOS need specific diagnosis methods and treatments.
research Three orphans one should know: red scalp, red ear and red scrotum syndrome
The document concludes that early recognition and appropriate treatment of red scalp, red ear, and red scrotum syndromes can lead to remission.
research Epoxy Fatty Acids and Inhibition of the Soluble Epoxide Hydrolase Selectively Modulate GABA Mediated Neurotransmission to Delay Onset of Seizures
EETs can delay seizures by affecting GABA activity, offering potential new treatments for seizures.
research Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women
Certain gene variations may increase the risk of PCOS in South Indian women.
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 2,3,7,8-Tetrachlorodibenzo-p-dioxin Increases the Expression of Genes in the Human Epidermal Differentiation Complex and Accelerates Epidermal Barrier Formation
TCDD speeds up skin barrier formation by increasing certain gene expressions.
research Evaluation of Glutathione-Related Antioxidant Enzyme Activity in Patients with Polycystic Ovary Syndrome (PCOS) and Investigation of Clinical Correlations
Higher ꝩ-GCS enzyme levels in PCOS patients may play a role in the disease.
research Erythema Nodosum Associated with Kerion: A Case Series and Narrative Review of the Literature
Erythema nodosum linked to kerion can be treated effectively with antifungals and steroids to reduce scarring.
research 44391 ICI Therapy Toxicities in Psoriasis
ICI therapy increases the risk of gastrointestinal and endocrine issues in psoriasis patients.
research A skin organoid-based infection platform identifies an inhibitor specific for HFMD
NSC167409 can effectively inhibit the virus causing hand, foot, and mouth disease.
research Alopecia areata in a Patient with Candidiasis-Endocrinopathy Syndrome: Unsuccessful Treatment Trial with Diphenylcyclopropenone
The treatment for alopecia areata with diphenylcyclopropenone was unsuccessful.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research A case of erosive pustular dermatosis of the scalp in a pediatric patient
EPDS can cause recurring scalp sores and hair loss if not treated.