28 citations
,
February 2019 in “Genes” This review discusses the regulation and dynamics of the Wnt/β-catenin signaling pathway in development, pluripotency, and cancer, highlighting potential mechanisms and future research directions, but reports no new results.
125 citations
,
August 2020 in “Frontiers in Immunology” This review discusses sex-based differences in immune responses, focusing on genetic, hormonal, and microbiome factors influencing infections like COVID-19, and reports no clinical results.
58 citations
,
December 2020 in “Mayo Clinic Proceedings” This paper discusses the variability in COVID-19 susceptibility and severity, emphasizing factors like biological differences and suggesting potential precision medicine approaches, but it reports no new clinical results.
49 citations
,
April 2000 in “Journal of The American Academy of Dermatology” This article discusses the etiology, clinical features, diagnosis, histopathology, and treatment of alopecia areata but reports no new clinical findings; it emphasizes the palliative nature of current treatments.
34 citations
,
April 2009 in “Expert Opinion on Pharmacotherapy” This review discusses evidence-based treatments for common hair loss forms, noting robust support for androgenetic alopecia therapies but limited long-term data and fewer high-quality studies for alopecia areata and cicatricial alopecias.
7 citations
,
January 2012 in “International Journal of Trichology” This article highlights differences in childhood alopecia areata compared to adult cases but reports no new clinical findings.
50 citations
,
December 2005 in “European Journal of Immunology” This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.
April 2026 in “Nature Communications” This study found that dedifferentiated corneal epithelial cells can revert to a stem-cell-like state, aiding tissue homeostasis and repair, with this plasticity limited to the epithelial lineage and enhanced by niche-derived cytokines.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
April 2026 in “npj Parkinson s Disease” This study found that VPS13C variants are significantly enriched in patients with idiopathic REM sleep behavior disorder (iRBD), associating these variants with more severe symptoms, autonomic dysfunction, and faster progression from iRBD to overt α-synucleinopathy in the iRBD-first disease subtype.
March 2026 in “Nature Communications” In this study, researchers conducted a large genome-wide association meta-analysis and found 30 significant genetic loci linked to the risk of dermatophytosis, shedding light on the roles of keratin biology, skin barrier defects, immune dysfunction, and obesity in the disease.
January 2026 in “Scientific Reports” In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.
December 2025 in “Nature Communications” In this study using mouse models, researchers found that elevated IL-17a in aged olfactory epithelium impairs olfactory function, while IL-17a inhibition promotes regeneration and mitigates age-related decline.
29 citations
,
October 2010 in “Journal of Investigative Dermatology” This research found that activating a KrasG12D mutation in mice led to skin thickening, papillomas, and hair growth issues, suggesting that even rare KRAS mutations can mimic human RAS/MAPK syndrome symptoms.
32 citations
,
January 2010 in “Journal of Dermatological Science” In this study, Waved-5 mice with reduced EGFR signaling showed nearly normal skin and hair follicle function but experienced a transient reduction in subcutaneous fat.
20 citations
,
July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
January 2025 in “Kuwait Journal of Science” In this study, researchers sequenced the KRT71 gene in 102 dromedary camels to find genetic polymorphisms linked to hair shape, identifying 17 variants but none that fully explained hair shape variations, suggesting other genes may also play a role.
26 citations
,
May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
1 citations
,
January 2020 in “Journal of Translational Genetics and Genomics” This study identified 47 genetic variants with a higher frequency in centenarians compared to young controls in the Bulgarian population, suggesting potential associations with longevity.
This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.
43 citations
,
September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
28 citations
,
February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
7 citations
,
February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
6 citations
,
March 2020 in “Anais Brasileiros de Dermatologia” This study found that the genetic variants rs231775 and rs3087243 of the CTLA4 gene are not associated with alopecia areata in the Mexican population analyzed.
3 citations
,
October 2021 in “The Application of Clinical Genetics” This study found that certain genetic variations in the OPN gene may be linked to atopic dermatitis and a higher prevalence of asthma in Caucasians.
3 citations
,
May 2018 in “The Indian Journal of Animal Sciences” This study suggests that the KAP 7 gene may serve as a potential molecular marker for genetic selection to improve staple length and greasy fleece weight in Rambouillet sheep.
April 2011 in “Vestnik dermatologii i venerologii” This study found an association between 'short' CAG repeats in the androgen receptor gene and increased non-random X chromosome inactivation in women with androgenic alopecia.
65 citations
,
November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
195 citations
,
November 2001 in “The Journal of Cell Biology” This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.
73 citations
,
December 2015 in “Nature Genetics” This study found that the Dun camouflage color in horses is due to TBX3 expression, which causes uneven pigment deposition, whereas non-dun coat colors result from regulatory mutations affecting TBX3 expression.