research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
Search
for
Sort by
Research
930-960 / 1000+ results research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research Sdr16c5 and Sdr16c6 control a dormant pathway at a bifurcation point between meibogenesis and sebogenesis
Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research Identification of the C-terminal tail domain of AHF/trichohyalin as the critical site for modulation of the keratin filamentous meshwork in the keratinocyte
The C-terminal tail of AHF/trichohyalin is essential for organizing keratin filaments in keratinocytes.
research The Editors' Choice
research Calcium regulation of stem cells
Calcium is important for stem cell function and maintenance, especially in blood and skin cells.
research 115 Distributions of type XII and XIV collagens in adult skin and the anagen hair follicle
research Oncogenes and morphogens: intricacies of targeted therapy in cutaneous basal cell carcinoma
Targeted therapy for skin cancer is complex due to the role of the hedgehog pathway in both cancer and hair growth.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research A correlation of breast cancer and calcium levels in hair analyzed by X-ray fluorescence
High calcium levels in hair may indicate early breast cancer.
research Board Certification
research A 20-year retrospective clinicopathologic study on melanoma in Singapore
Bleach baths with 0.005% hypochlorite help manage atopic dermatitis by affecting skin cells and reducing itchiness.
research Interventions for central serous chorioretinopathy: a network meta-analysis
No single treatment is clearly effective for central serous chorioretinopathy.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research Association of childhood dehydroepiandrosterone sulfate concentration, pubertal development, and DNA methylation at puberty-related genes
Higher childhood DHEAS levels are linked to advanced puberty and DNA changes.
research Critical study of hair growth analysis with computer-assisted methods
The Trichoscan system was found to be inaccurate for measuring hair growth, needing better software to be useful.
research Effectiveness of Xiao-Chai-Hu-Tang for patients of chronic fatigue syndrome：A protocol for systematic review and meta-analysis
The document plans to assess if Xiao-Chai-Hu-Tang is effective for chronic fatigue syndrome but has no results yet.
research Epidermal Differentiation Enhances CRABP II Expression in Human Skin
research The Sex-Linked Histocompatibility Antigens
Male-to-female skin grafts in mice are rejected due to sex-linked antigens.
research Crosslinking Between Trichocyte Keratins and Keratin Associated Proteins
research AP-1 and TGFß cooperativity drives non-canonical Hedgehog signaling in resistant basal cell carcinoma
AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
research ISHRS Best Practices Survey Project MODULE: Who Does What SUMMARY ANALYSIS
research Exclamation marks and other trichoscopic signs of chemotherapy-induced alopecia
Chemotherapy can cause hair changes similar to alopecia areata, which might lead to misdiagnosis.
research A Novel Type II Cytokeratin, mK6irs, is Expressed in the Huxley and Henle Layers of the Mouse Inner Root Sheath
A new protein, mK6irs, is found in specific hair layers and may help understand hair growth and diseases.
research Hair Cortisol: A Biomarker of Chronic Stress in Animals and its Association with Reproduction
High levels of cortisol in hair show long-term stress which can lower fertility in animals.
research Inherited Disorders of Corneocyte Proteins
Ichthyoses are genetic skin disorders that affect the skin's barrier function.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.