research A temperature-sensitive FERONIA mutant allele that alters root hair growth
A mutant FERONIA gene affects root hair growth at high temperatures.
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research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Pten loss in Lgr5+ hair follicle stem cells promotes SCC development
Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research The association between Interleukin (IL)-4 gene intron 3 VNTR polymorphism and alopecia areata (AA) in Turkish population
IL-4 gene variation may increase the risk of alopecia areata in Turkish people.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Upregulation of the truncated basic hair keratin 1(hHb1‐ΔN) in carcinoma cells by Epstein‐Barr virus (EBV)
EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
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 Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Activated Polyamine Catabolism Depletes Acetyl-CoA Pools and Suppresses Prostate Tumor Growth in TRAMP Mice
Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse
Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Mrp3, a Mitogen-Regulated Protein/Proliferin Gene Expressed in Wound Healing and in Hair Follicles*
Mrp3 helps in wound healing and hair growth.
research 078 The transmembrane protein LRIG1 regulates receptor tyrosine kinases in skin development and homeostasis
LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.