21 citations
,
April 2019 in “Clinical, cosmetic and investigational dermatology” This article reviews the causes and clinical presentation of pseudofolliculitis barbae, highlighting how genetic susceptibility and hair removal practices contribute to its development, but reports no new research findings.
211 citations
,
April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
15 citations
,
January 2018 in “Advances in experimental medicine and biology” This review discusses recent advances in understanding the structural hierarchy of trichocyte keratins, including their heterodimeric structure and distinct conformations impacting hair growth, with no new experimental results reported.
1 citations
,
January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” This case report describes a 10-year-old girl with monilethrix, detailing hereditary autosomal dominant traits and distinctive nodular hair shaft abnormalities observed in her family through clinical examination and microscopic analysis.
54 citations
,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” This chapter reviews keratins in skin epithelia, including their roles in cellular function and disease, and reports no new experimental results.
42 citations
,
July 2015 in “PLoS ONE” This study presents the first detailed 3D models of the complete K1/K10 keratin dimer and identifies structural features and interactions that may inform understanding of keratin filament assembly.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
40 citations
,
June 2013 in “Journal of cosmetic dermatology” This review discusses the widespread use of Brazilian keratin treatments and notes that many contain formaldehyde, marketed as safe despite potential safety concerns, but reports no new clinical results.
12 citations
,
January 2013 in “Indian Journal of Dermatology” This case report on a 13-year-old boy with monilethrix observed slight improvement after a two-month trial of oral N-acetyl cysteine, but overall hair density did not improve further.
186 citations
,
December 2012 in “Current opinion in cell biology” This review discusses the recent advancements in understanding how keratins influence cytoarchitecture, cell dynamics, and disease processes but reports no new clinical results; the authors highlight its roles in development and diseases like cancer.
95 citations
,
September 2012 in “Oman Medical Journal” This review discusses the structure, types, and distribution of keratins and their role in tissue fragility disorders, particularly within the oral cavity, without presenting new clinical findings.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
26 citations
,
April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
185 citations
,
December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
11 citations
,
July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
79 citations
,
February 2009 in “Human Genetics”
1398 citations
,
May 2008 in “Histochemistry and Cell Biology” This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.
138 citations
,
March 2007 in “Experimental cell research” This review discusses hair keratins and hair follicle-specific epithelial keratins and their association with inherited hair disorders, reporting no new clinical results.
226 citations
,
January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
79 citations
,
March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
276 citations
,
January 2005 in “International review of cytology” More research is needed to understand how hair keratins work and their role in hair disorders.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.
31 citations
,
January 2004 in “Methods in cell biology” Hair and follicle keratins differ in structure and expression, especially in cysteine content.
686 citations
,
February 2002 in “Current Opinion in Cell Biology” Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.
287 citations
,
July 2001 in “Journal of Cell Science” This study mapped 65 intermediate filament genes in the human genome, highlighting that the majority of keratin-related sequences are inactive pseudogenes, notably for keratins 8 and 18.
13 citations
,
May 2001 in “Current problems in dermatology” Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
32 citations
,
January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
51 citations
,
March 1990 in “Journal of Investigative Dermatology” 187 citations
,
May 1988 in “Differentiation” This study found that trichocytic cytokeratins, typically found in hair, are also present in nails, filiform papillae of the tongue, and the epithelial reticulum of the thymus.