research The Functional Diversity of Epidermal Keratins Revealed by the Partial Rescue of the Keratin 14 Null Phenotype by Keratin 16
K16 can partially replace K14 but causes hair loss and skin issues.
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720-750 / 1000+ results research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Androgen receptor gene polymorphism and biological age markers in men
AR gene variations don't affect aging markers in men.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research The role of translation in keratinocyte cell fate determination.
Translation levels actively determine keratinocyte cell fate.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Pyruvate kinase M2 promotes hair regeneration by connecting metabolic and Wnt/β- catenin signaling
Activating PKM2 and Wnt/β-catenin signaling together can potentially enhance hair growth and could be a treatment for hair loss.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice
PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
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 Annotation of sheep keratin intermediate filament genes and their patterns of expression
Sheep have 17 keratin genes, similar to humans, but with different expression patterns affecting wool and hair.
research Effects of different concentrations of androgens on KAP24.1 gene expression in Hetian sheep and Karakul sheep
Different androgen concentrations affect wool-related gene expression differently in Hetian and Karakul sheep breeds.
research A transcriptomic map of murine and human alopecia areata
Alopecia areata involves specific immune cells, offering potential treatment targets.
research 766 H3K9me3 methyltransferase SETDB1 controls retrotransposon silencing, DNA methylation, constitutive heterochromatin maintenance and 3D-chromatin structure in epidermal keratinocytes
SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Identification of Ovine KRTAP28-1 and Its Association with Wool Fibre Diameter
KRTAP28-1 gene can help breed sheep with finer wool.
research Differential Gene Expression Screening Between Black and Gray Hairs Using Subtractive Library and DNA Chip
Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.
research Stepwise acquisition of unique epigenetic signatures during differentiation of tissue Treg cells
Tissue environment greatly affects the unique epigenetic makeup of regulatory T cells, which could impact autoimmune disease treatment.
research 인체 모낭에서 TGF-β 발현에 대한 면역조직화학적 연구
TGF-β1 and 2 in hair follicles may be linked to hair loss in AGA.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Increased blood levels of NKG2D+CD4+ T cells in patients with alopecia areata
NKG2D+CD4+ T cells are higher in alopecia areata patients and may be involved in the disease.
research Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men
A new gene, JMJD1C, may affect testosterone levels in men.
research Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research The Impact of Vitamin D Receptor Gene Polymorphisms (FokI, ApaI, TaqI) in Correlation with Oxidative Stress and Hormonal and Dermatologic Manifestations in Polycystic Ovary Syndrome
Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.