research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
Search
for
Sort by
Research
810-840 / 1000+ results 
research 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks
Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
research Skin stem cells and tumor growth : functions of collagen XVIII in hair follicle cycling and skin cancer, and Bmx tyrosine kinase in tumor angiogenesis
Collagen XVIII and Bmx tyrosine kinase are important for hair growth and skin cancer development.
research Radially patterned morphogenesis of murine hair follicle placodes ensures robust epithelial budding
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
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.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
research Whole-genome resequencing to investigate the genetic diversity and the molecular basis underlying key economic traits in indigenous sheep breeds adapted to hypoxic environments
Tibetan sheep have specific genes for high-altitude adaptation and wool traits, aiding breeding strategies.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research 869 The specification of Merkel cell in the back skin and glabrous paw skin is controlled by FGFR2-meditated signaling
FGFR2 signaling controls Merkel cell formation in different skin regions.
research Androgen Regulation of the Human Hair Follicle: The Type I Hair Keratin hHa7 Is a Direct Target Gene in Trichocytes
The hHa7 gene is regulated by androgens in certain body hair, not scalp hair.
research Expression of hair keratins in the adult nail unit: an immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed
The ventral matrix is the main source of the nail plate.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research 0140 Delineating key molecular programs that induce hair-follicle-inductive dermal fibroblasts using a novel single-cell genomic approach
Wnt and SHH pathways help form hair follicles by coordinating cell processes.
research A desmosomal cadherin controls multipotent hair follicle stem cell quiescence and orchestrates regeneration through adhesion signaling
A protein called desmoglein 3 is important for keeping hair follicle stem cells inactive and helps in their regeneration.
research Coordinating the Sculptors: Ectodysplasin-A (EDA) Signaling Cross-Talk with Skeletogenic Pathways
EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
research Seasonal Gene Expression Profile Responsible for Hair Follicle Development in Angora goats
Seasonal changes affect hair growth genes in Angora goats, possibly influencing mohair quality.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research A Signature of Genes Featuring FGF11 Revealed Aberrant Fibroblast Activation and Immune Infiltration Properties in Keloid Tissue
Keloid skin disorder involves abnormal fibroblast activation and immune response, linked to a group of genes including FGF11.
research OXYTOCIN RECEPTOR EXPRESSION IN HAIR FOLLICLE STEM CELLS: A PROMISING MODEL FOR BIOLOGICAL AND THERAPEUTIC DISCOVERY IN NEUROPSYCHIATRIC DISORDERS
Rat hair follicle stem cells have functional oxytocin receptors, useful for studying neuropsychiatric disorders.
research Phenotypic, transcriptomic, and genomic analyses reveal the spatiotemporal patterns and associated genes of coarse hair density in goats
The gene GJA1 is important for regulating coarse hair density in goats.
research HDAC6-dependent deacetylation of NGF dictates its ubiquitination and maintains primordial follicle dormancy
HDAC6 helps keep ovarian follicles dormant, extending female fertility.
research Expression patterns of three estrogen receptor genes during zebrafish (Danio rerio) development: evidence for high expression in neuromasts
The three estrogen receptor genes are highly expressed in zebrafish neuromasts during development.
research Integrated single-cell chromatin and transcriptomic analyses of human scalp reveal etiological insights into genetic risk for hair and skin disease
The research provided new insights into the genetic factors contributing to hair loss and skin conditions by analyzing individual cells from the human scalp.
research Characterization of hairless (Hr) and FGF5genes provides insights into the molecular basis of hair loss in cetaceans
Cetaceans lost hair due to changes in the Hr and FGF5 genes.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research 607 Cutaneous overexpression of cyclooxygenase-2 models androgenetic alopecia in adult mice
Cyclooxygenase-2 overexpression in mice skin causes hair loss like human androgenetic alopecia.