research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
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360-390 / 1000+ results research 85 Primary cutaneous follicle center lymphoma spans yet unrecognised subtypes including polyclonal reactions
PCFCL may have unrecognized subtypes and needs more research.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
Classical PCOS types A and B are most common and linked to higher health risks.
research Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes
KAP genes show significant genetic variability, but its impact on hair traits is unclear.
research Implications of a Clinically Ignored Site of Acanthosis Nigricans: The Knuckles
Knuckle Acanthosis Nigricans is common in Latin American youth and may indicate early insulin resistance, especially in those with normal weight.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research The structure of human trichohyalin : potential multiple roles as a functional ef-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein
Trichohyalin is a versatile protein involved in hair and skin structure.
research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes
Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research ZO-1 boosts the in vitro self-renewal of pre-haematopoietic stem cells from OCT4-reprogrammed human hair follicle mesenchymal stem cells through cytoskeleton remodeling
ZO-1 helps hair follicle stem cells renew better by changing their structure.
research Cytokeratins as Markers of Follicular Differentiation
TB and BCC tumors show similar follicular differentiation patterns.
research Giant Keratoacanthoma Mimicking Squamous Cell Carcinomain a Patient with Chronic Myeloid Leukemia
Giant keratoacanthoma can look like squamous cell carcinoma, requiring careful diagnosis and surgical removal.
research NAC1 directs CEP1-CEP3 peptidase expression and modulates root hair growth in Arabidopsis
NAC1 controls certain enzymes that reduce root hair growth in Arabidopsis.
research Genome-wide Maps of Histone Modifications Unwind In Vivo Chromatin States of the Hair Follicle Lineage
Hair follicle stem cells use specific chromatin changes to control their growth and differentiation.
research Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness
A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research 447 Skin-Associated Cartilage Consists of Lipid-Filled Cells That Modify Hair Growth via BMP and WNT Signaling
Skin-associated cartilage cells can influence hair growth by altering specific signaling pathways.
research Acne Keloidalis Nuchae
AKN might be a skin marker for metabolic syndrome.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research 266 Myristoylphorbol Acetate (MPA) Enhances Metastasis Via Up-regulation of Eph A2 Transcription Activity
MPA increases cancer spread by boosting Eph A2 activity.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Central Centrifugal Cicatricial Alopecia: A Survey of Treatment Practices Among Dermatology Residents and Attending Physicians
There is no standard treatment for CCCA, and practices vary widely.
research Polycystic ovary syndrome is associated with anogenital distance, a marker of prenatal androgen exposure
Women with polycystic ovary syndrome tend to have a longer anogenital distance.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research Inhibitory amino acid transmitters associated with axons in presynaptic apposition to cutaneous primary afferent axons in the cat spinal cord
Presynaptic inhibition of certain nerve fibers in cats is mainly controlled by GABA and glycine.