research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.
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research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Fibroproliferative genes are preferentially expressed in central centrifugal cicatricial alopecia
Genes linked to fibrosis are more active in people with central centrifugal cicatricial alopecia.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research Tissue regenerative delays and synthetic lethality in adult mice after combined deletion of Atr and Trp53
Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
research LB1672 Senescent melanocytes in nevus skin stimulate hair growth
Senescent melanocytes in nevus skin boost hair growth.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research Cepharanthine, a regulator of keap1-Nrf2, inhibits gastric cancer growth through oxidative stress and energy metabolism pathway
Cepharanthine may help treat gastric cancer by causing cancer cell death and affecting energy use.
research Association Between Human Hair Loss and the Expression Levels of Nucleolin, Nucleophosmin, andUBTFGenes
Hair loss is significantly linked to lower levels of certain genes in hair follicles.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Polymorphism of CAG and GGN repeats of androgen receptor gene in women with polycystic ovary syndrome
Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
research Stabilization of β-catenin promotes melanocyte specification at the expense of the Schwann cell lineage
Activating β-catenin increases melanocytes and decreases Schwann cells.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Induction of ferroptosis by natural products in non-small cell lung cancer: a comprehensive systematic review
Natural products may help treat Non-Small Cell Lung Cancer by causing cancer cell death through ferroptosis.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Wnt signaling: the good and the bad
Wnt signaling is important for development and cell regulation but can cause diseases like cancer when not working properly.
research Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
research Reduced SMAD2/3 activation independently predicts increased depth of human cutaneous squamous cell carcinoma
Lower SMAD2/3 activation predicts more severe skin cancer.
research EGFR : stopping stathmin to start the cycle
EGFR helps hair follicles transition properly by controlling Stathmin levels.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Priming mobilization of hair follicle stem cells triggers permanent loss of regeneration after alkylating chemotherapy
Chemotherapy causes permanent hair follicle damage by triggering stem cell loss.
research Severe follicular hyperplasia and spontaneous papilloma formation in transgenic mice expressing theneu oncogene under the control of the bovine keratin 5 promoter
ErbB2 signaling is crucial for skin cell growth and cancer development in mice.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
research Reply to: The ends of a conundrum?
K10 may not prevent tumors as previously thought and might increase benign tumor risk.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.