103 citations
,
October 2003 in “Birth Defects Research” This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.
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
,
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.
95 citations
,
July 2010 in “Genes & development” In this study, the researchers reported that Notch/CSL signaling is crucial for hair follicle differentiation, with Wnt5a signaling and FoxN1 acting as mediators in mice.
94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
93 citations
,
February 2009 in “Annals of the New York Academy of Sciences” This review describes the roles of 5α-reductase isozymes in prostate development and pathology and reports no new clinical results.
92 citations
,
January 2012 in “International Journal of Biological Sciences” This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
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
,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.
87 citations
,
January 2016 in “Development” This study suggests that the postnatal loss of hair follicle formation in wounds may be due to elevated Wnt/β-catenin activation in the dermis, affecting fibroblast function in mice.
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.
86 citations
,
October 2005 in “Experimental Dermatology” This review explores the role of Foxn1 in mammalian skin biology, discussing its influence on hair follicle function and the potential for further research to enhance understanding of epithelial differentiation.
86 citations
,
December 2001 in “Experimental dermatology” This review classifies mutant mice with hair abnormalities into six categories, providing an annotated table that serves as a reference for understanding the molecular controls of hair growth.
85 citations
,
August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
85 citations
,
July 2002 in “Pigment Cell Research” This review examines cell senescence pathways in melanocytes, highlighting the involvement of telomere attrition, the p16/RB pathway, and cAMP signaling in the context of melanoma development, but reports no new findings.
84 citations
,
July 2003 in “European journal of biochemistry” This study found that mouse skin can produce and metabolize serotonin and N-acetylserotonin, with activity influenced by location, physiological skin status, cell type, and mouse strain.
82 citations
,
March 2012 in “Development” This study found that deleting the miRNA processing enzymes Drosha and Dicer from mouse skin epithelial cells disrupted normal hair follicle development and maintenance, leading to follicular degradation and stem cell loss during the growth phase.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
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.
80 citations
,
April 2011 in “Plant physiology” This study suggests that the GPX-PDE1 and GPX-PDE2 genes in white lupin enhance root hair development and contribute to Pi limitation acclimation by facilitating glycerophosphodiester degradation.
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
,
May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
75 citations
,
October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
73 citations
,
June 2001 in “Endocrinology” In this study, researchers found that disrupting the PRL gene in mice led to earlier hair molting, especially in females, suggesting that PRL inhibits murine hair cycle events.
72 citations
,
July 2012 in “Journal of Investigative Dermatology” This study found that mice with a specific loss of DNA methyltransferase 1 showed uneven epidermal thickness, reduced hair regeneration, and progressive alopecia, emphasizing DNA methylation's role in stem cell homeostasis.
72 citations
,
January 2011 in “Current Pharmaceutical Design” This review discusses the potential role of steroid 5α-reductase inhibitors in treating neuropsychiatric disorders related to dopaminergic hyperreactivity but reports no new clinical results.
66 citations
,
April 1995 in “The journal of cell biology/The Journal of cell biology” In this study, researchers reported that a keratinocyte growth factor-Ig fusion protein could specifically detect and localize KGFRs in epithelial tissues, suggesting a method for histochemical detection of growth factor receptors.