133 citations
,
February 2017 in “PLoS Genetics” In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
128 citations
,
September 2011 in “British Journal of Dermatology” Obesity is linked to various skin problems and may increase the risk of skin cancer.
127 citations
,
July 2002 in “EMBO journal” This study found that RXRα/RARγ heterodimers are necessary for retinoic acid-induced keratinocyte proliferation in the skin, while normal epidermal maintenance does not require RAR-mediated signaling.
125 citations
,
September 2019 in “Journal of Clinical Immunology” This review summarizes recent advances in Treg cell biology, focusing on Foxp3's role in immune regulation and therapeutic reprogramming for immune dysregulatory disorders, but reports no new clinical results.
122 citations
,
June 2002 in “Genes & Development” This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
117 citations
,
May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
115 citations
,
March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
104 citations
,
October 2016 in “PLoS ONE” This study found that CRISPR/Cas9-mediated disruption of the FGF5 gene in goats increased hair follicle numbers and fiber length, suggesting more cashmere production could be achieved.
103 citations
,
March 2015 in “Nature Communications” This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
102 citations
,
August 2008 in “Genes & Development” This study found that laminin-511 is crucial for hair morphogenesis in mice, as it influences primary cilia formation and dermal papilla maintenance through noggin and sonic hedgehog signaling.
101 citations
,
August 2010 in “PLoS ONE” In this mouse study, severe selenoprotein deficiency in epidermal cells was linked to skin abnormalities, disrupted hair follicle development, and progressive alopecia, highlighting the role of selenoproteins in skin and hair health.
100 citations
,
September 2016 in “Clinical transplantation/Clinical transplantation.” This study highlights that prolonged voriconazole use is linked to an increased risk of aggressive cutaneous malignancies like squamous cell carcinoma, necessitating careful monitoring of drug levels to manage adverse effects.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
99 citations
,
August 2009 in “Nature Genetics” This study found that combined loss of Atr and p53 in adult mice led to severe tissue degeneration and delayed regeneration due to the accumulation of highly damaged cells.
98 citations
,
June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
97 citations
,
March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
96 citations
,
June 2017 in “Nature Communications” This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.
93 citations
,
June 2001 in “The Journal of Clinical Endocrinology and Metabolism” This study found that serum androgen levels in premenopausal women may be influenced by genetic variants of the androgen receptor and estrogen receptor β genes.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
87 citations
,
September 2019 in “Nature Communications” In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.
87 citations
,
May 2012 in “PLOS Genetics” This study found that early-onset androgenetic alopecia in individuals of European ancestry is significantly associated with increased odds of Parkinson's disease and is influenced by specific genetic loci, including some linked to reduced fertility.
85 citations
,
June 2015 in “Scientific Reports” This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.
84 citations
,
October 2014 in “PLoS Genetics” This study found that epidermal Wnt production is crucial for forming the skin's spinous layer through a BMP-FGF signaling cascade, although Wnt from basal cells is not needed for their differentiation.
84 citations
,
February 2013 in “Clinica chimica acta” This review presents evidence that correlations exist between hair mineral imbalances and various diseases, though inconsistencies in results highlight the need for standardized preparation methods.
84 citations
,
March 2010 in “Infectious Disease Clinics of North America” The document concludes that rapid identification, isolation, and strict infection control are crucial to manage SARS outbreaks.
82 citations
,
October 2019 in “Frontiers in Immunology” This review discusses the features of regulatory T cells and the modulation of Foxp3, emphasizing post-translational modifications' impact on Treg function but reports no new clinical results.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.