research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
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510-540 / 1000+ resultsresearch Distinguishing Mouse Strains by Proteomic Analysis of Pelage Hair
Proteomic analysis can identify genetic differences in mouse hair, helping understand hair defects and variations.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
research Attraction of sensory fibers by Merkel cells during co-culture of sensory ganglia and hair follcies in collagen-gel
research Risk of erythrocytosis in transgender individuals undergoing testosterone therapy: a systematic review
Testosterone therapy in transgender individuals can increase the risk of erythrocytosis.
research Genetic Prediction of Eye, Hair, and Skin Color: Forensic Applications and Challenges in Latin American Populations
Accurate prediction of eye, hair, and skin color in Latin American populations requires region-specific models and ethical guidelines.
research Tabby pattern genetics – a whole new breed of cat
Two genes, Tabby and Ticked, determine cat coat patterns.
research Genetic Basis of Pigmentation and Its Disorders
Understanding genes can help diagnose and treat skin color disorders.
research Beyond the Epidermal-Melanin-Unit: The Human Scalp Anagen Hair Bulb Is Home to Multiple Melanocyte Subpopulations of Variable Melanogenic Capacity
The human scalp has different types of pigment cells in hair follicles with varying abilities to produce pigment.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research 890 Development of pigmented reconstructed human epidermis model containing human melanoblasts from keratinocyte culture
The created skin model with melanoblasts improves the study of skin color and offers an alternative to animal testing.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Variations in anterior segment parameters among different phenotypes of polycystic ovary syndrome
PCOS may increase eye pressure and corneal thickness, affecting eye health.
research Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
research HAIR DEPIGMENTATION AND DERMATITIS – AN UNEXPECTED PRESENTATION OF CYSTIC FIBROSIS
Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
research Leukokoria sebagai Tanda Peringatan Penyakit Coats dan Gangguan Retina Lainnya
Leukokoria can signal Coats disease or other retinal issues, requiring early detection to prevent severe outcomes.
research Hypertrichose
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Common genetic hair shaft abnormalities may be visualized by light and electron microscope
Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
research Structural changes in the trichocyte intermediate filaments accompanying the transition from the reduced to the oxidized form
Oxidation changes the structure of hair protein filaments, causing them to compact and rearrange.
research Cover Feature: Electronic Circular Dichroism Imaging (ECD i ) Casts a New Light on the Origin of Solid‐State Chiroptical Properties (Chem. Eur. J. 4/2022)
SR-ECDi helps better understand and map the chiroptical properties of solid chiral materials.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.