Search
for
Sort by
Research
660-690 / 1000+ results
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research G338(P) Dermatological manifestations in children with chronic kidney disease in a tertiary care center: a case-control study
Children with chronic kidney disease often have skin, hair, and nail problems.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Severe kerion celsi due to Trichophyton mentagrophytes: a case report
Tinea capitis needs systemic treatment to avoid severe outcomes.
research Sulfur Containing Tyrosine Analogs Can Cause Selective Melanocytotoxicity Involving Tyrosinase-Mediated Apoptosis
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research 1,25-dihydroxyvitamin D resistance, rickets, and alopecia
A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
research Combined C3b and Factor B Autoantibodies and MPGN Type II
The FDA did not approve certain drugs for prostate cancer prevention due to concerns about their effectiveness and potential risks.
research SPRY1 Deficiency in Keratinocytes Induces Follicular Melanocyte Stem Cell Migration to the Epidermis through p53/Stem Cell Factor/C-KIT Signaling
SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Trichothiodystrophy
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research We-P13:320 The clinical significance of serum 7-ketocholesterol levels in patients with metabolic syndrome or acute myocardial infarction
research Pretibial Pruritic Papular Dermatitis: A Case Report and Emphasis on Effective Treatment with Pentoxifylline
Pentoxifylline effectively improves pretibial pruritic papular dermatitis.
research Alopecia induced by inhalation exposure to phenyl glycidyl ether
High levels of phenyl glycidyl ether vapor caused hair loss in rats.
research Higher levels of hair EtG in patients with decreased kidney function
People with kidney problems have higher hair EtG levels.
research WNT10A , dermatology and dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research 12-O-Tetradecanoylphorbol-13-acetate Induces Apoptosis in Renal Epithelial Cells through a Growth Signal Conflict Which Is Prevented by Activated ras1
Activated ras can protect kidney cells from a certain substance that causes cell death.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Pyruvate Kinase M2 Promotes Hair Regeneration by Connecting Metabolic and Wnt//β-Catenin Signaling
Pyruvate Kinase M2 helps hair grow by linking energy production and a key hair growth pathway.
research PA30 Evaluation of markers of inflammation and oxidative stress in patients with premature canities
Premature canities is linked to low vitamin D and B12, family history, and higher MHR.
research Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control
Dupilumab effectively controls symptoms in infants with Netherton syndrome.
research Acute severe hypokalemia caused by treatment of tongue squamous cell carcinoma with docetaxel and cisplatin: A case report
Chemotherapy with docetaxel and cisplatin can cause severe low potassium, requiring careful monitoring and treatment.
research Alopecia Areata Universalis After Phenobarbital-Induced Anti-Convulsant Hypersensitivity Syndrome
A 3-year-old boy lost all his hair due to a rare reaction to phenobarbital, but it grew back after steroid treatment.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl
Precocious puberty can signal familial adenomatous polyposis.