research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
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510-540 / 1000+ results research SPRY1 Deficiency in Keratinocytes Induces Follicular Melanocyte Stem Cell Migration to the Epidermis through p53/Stem Cell Factor/C-KIT Signaling
SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research FGF5 is a crucial regulator of hair length in humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Complete sequence of a hair-like intermediate filament type II keratin gene
KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
research Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss
MC4R gene variants not linked to female hair loss.
research The FRZB gene regulates hair follicle development in rabbits via the Wnt/β-catenin signaling pathway
The FRZB gene slows hair growth in rabbits.
research Unravelling the link between insulin resistance and androgen excess
AKR1C3 could be a treatment target for metabolic issues in PCOS.
research Ligand‐independent Regulation of the hairless Promoter by Vitamin D Receptor†
Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
research The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling
Blocking CXCR4 may help treat hidradenitis suppurativa.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
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.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research EBF1 expressed in the dermal papilla regulates hair type and length
EBF1 controls hair type and length.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research Abstract 1026: A non-apoptotic function for Mcl-1 as an activator of canonical Wnt signaling in keratinocytes
Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
research Comparative genomics of the keratin-associated protein (KAP) gene clusters in human, chimpanzee, and baboon
KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Androgen receptor inhibits the hair follicle induction potential of dermal papilla cells by binding with Tcf4 at the A574 binding site
research Barley disease susceptibility factor RACB acts in epidermal cell polarity and positioning of the nucleus
RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
research Ox40-Cre–mediated deletion of BRD4 reveals an unexpected phenotype of hair follicle stem cells in alopecia
Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Genomewide analysis of copy number variants in alopecia areata in a C entral E uropean cohort reveals association with MCHR 2
MCHR2 gene duplications may be linked to alopecia areata.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research 0163 Specific targeting of dermal papilla cells with Hhip-Cre
research Vitamin D Receptor gene polymorphisms taq-1 and cdx-1 in female pattern hair loss
Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.