research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
Search
for
Sort by
Research
630-660 / 1000+ results research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research 2,5-Diazabicyclo[2.2.1]heptane in medicinal chemistry: a treasure trove of therapeutic opportunities
2,5-DBH shows promise for improving drugs in cancer, brain disorders, and infections.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research The role of phosphoglycerate dehydrogenase in cell proliferation and tumor progression
PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1
Two new gene clusters important for hair formation were found on human chromosome 11.
research Finasteride-Associated Central Serious Chorioretinopathy
research Understanding the Effect on Hair Fibers of Coloring and Bleaching Formulations Using High Pressure Differential Scanning Calorimetry (HPDSC)
Hair coloring and bleaching can permanently break down hair protein and temporarily change its properties.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.
research Idiopathic unilateral facial hirsutism
A woman had unusual hair growth on one side of her chin without a known cause.
research AtCSLD3 and GhCSLD3 mediate root growth and cell elongation downstream of the ethylene response pathway in Arabidopsis
AtCSLD3 and GhCSLD3 genes enhance root growth and cell elongation in plants.
research Hair follicle-derived mesenchymal cells support undifferentiated growth of embryonic stem cells
Hair follicle cells can help keep embryonic stem cells undifferentiated.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Assessment of Dermatological Disorders with Chronic Hepatitis C Virus Infection
People with chronic Hepatitis C often have skin problems like itching and contact dermatitis, especially older individuals and women.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Plasma levels of C19 steroid glucuronides in pre-menopausal women with non-classical congenital adrenal hyperplasia
Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research 252 Follicle dermal papilla cells undergo chromatin remodelling processes in vivo and in vitro
Hair follicle cells change their DNA packaging during growth cycles and when grown in the lab.
research Dracorhodin Perchlorate Regulates the Expression of Inflammatory Cytokines through the TLR4 Pathway and Improves Skin Wound Healing in Diabetic Rats
Dracorhodin perchlorate helps heal wounds in diabetic rats by reducing inflammation.
research Evaluation of the Tolerability of Hedgehog Pathway Inhibitors in the Treatment of Advanced Basal Cell Carcinoma: A Narrative Review of Treatment Strategies
Hedgehog pathway inhibitors (HHIs), specifically sonidegib and vismodegib, have expanded treatment options for advanced basal cell carcinoma (BCC) but are associated with adverse events (AEs) such as muscle spasms, creatine phosphokinase increase, alopecia, and dysgeusia. These AEs often occur early in treatment and can lead to discontinuation, impacting clinical outcomes. Differences in pharmacokinetics between the two drugs may affect the timing and resolution of AEs. Effective management strategies, including treatment interruptions, dose reductions, and both nonpharmacologic and pharmacologic interventions, can help manage AEs while maintaining disease control. Awareness and planning are crucial for healthcare providers and patients to optimize therapeutic responses and avoid discontinuation.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research 120 Identification of post-translationally modified trichohyalin epitopes responsible for triggering autoimmunity in alopecia areata
Trichohyalin in hair can trigger immune attacks in alopecia areata.
research Obesity resistance of the stearoyl-CoA desaturase-deficient (scd1 -/-) mouse results from disruption of the epidermal lipid barrier and adaptive thermoregulation
Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.