181 citations
,
January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
169 citations
,
May 2006 in “Genes & Development” This study found that keratin 17 and TNFα play interdependent roles in regulating hair follicle cycling, with TNFα required for the anagen–catagen transition and its ablation partially rescuing hair cycling defects in K17-null mice.
157 citations
,
May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
157 citations
,
August 2010 in “Lupus” This review discusses the various common, rare, and unusual skin manifestations of lupus erythematosus and highlights the importance of accurate diagnosis, but it reports no new clinical results.
157 citations
,
October 2003 in “Development” This study found that different stabilizing mutations in Aux/IAA proteins affect root hair development in Arabidopsis by disrupting the auxin response and suggest a model where the relative abundance of these proteins determines root hair initiation.
144 citations
,
March 2013 in “Circulation Research” This study reports that mutations in the SUR2 gene are linked to Cantu syndrome, highlighting the role of KATP channels in cardiovascular health and potential new therapies.
137 citations
,
October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
131 citations
,
March 2004 in “The American journal of pathology” This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.
125 citations
,
May 2019 in “Phytomedicine” This review discusses the historical development, mechanisms of action, and potential new clinical applications of the drug cepharanthine, highlighting its multi-faceted pharmacological properties; it reports no new clinical results.
124 citations
,
September 1992 in “Endocrinology” This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.
111 citations
,
January 2007 in “Seminars in cell & developmental biology” This article reviews the similarities in early development processes of hair follicles, teeth, and mammary glands and reports no new experimental findings.
105 citations
,
February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
104 citations
,
May 2003 in “Endocrinology” This study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.
103 citations
,
March 2011 in “PLoS Biology” This study found that a mutation in the BMP12/GDF7 gene is associated with the Naked neck trait in chickens, reducing neck feathering due to altered signaling pathways.
101 citations
,
November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
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.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
97 citations
,
September 2016 in “Reviews in Endocrine and Metabolic Disorders” This review summarizes recent multidisciplinary advances in sebaceous gland research and highlights potential novel therapeutic strategies for skin diseases, but it reports no new clinical results.
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.
92 citations
,
December 2016 in “Scientific Reports” This study identified genomic regions and candidate genes that may contribute to phenotypic diversity in coat color, body size, cashmere traits, and high-altitude adaptation in domesticated goat breeds.
91 citations
,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
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
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.
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.
86 citations
,
August 2011 in “Toxicological sciences” In this study, researchers found that TCDD exposure accelerated differentiation and altered gene expression in human epidermal cells, indicating the epidermal barrier as a target of TCDD-activated AHR.
86 citations
,
May 2008 in “Cytokine & growth factor reviews” This review discusses recent discoveries about the role of Eda and other TNF-related cytokines in skin appendage development and reports no new experimental results, highlighting developments since the last comprehensive summary in 2003.
81 citations
,
January 2006 in “Journal of cellular physiology” This study found that the absence of the vitamin D receptor disrupts hair follicle structure during the first catagen in mice, linked to increased expression of the hairless gene.
77 citations
,
April 2009 in “British Journal of Dermatology” In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.
76 citations
,
December 2009 in “Clinics in Dermatology” This review discusses the indications, contraindications, and potential for using hormonal therapy as a first-line treatment for acne in females, but reports no new clinical results.
76 citations
,
November 2009 in “Medical Clinics of North America” This article reviews the hormonal and medication-related factors associated with acne development but does not present new research findings.