20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
79 citations
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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.
9 citations
,
August 2007 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” This study observed that amino acid uptake into wool follicles varies significantly, with cysteine showing the highest uptake rate, suggesting specialized transport systems that may influence wool growth.
38 citations
,
October 2011 in “Analytical biochemistry” This study used proteomic techniques to analyze human hair proteins, revealing keratin heterogeneity and identifying posttranslational modifications, such as cysteine trioxidation and methylation.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.
35 citations
,
July 2010 in “The FEBS journal” In this study, researchers identified a highly reactive, isozyme-specific sequence for TGase 3, contributing to understanding its distinct functional role and activity distribution in the mouse epidermis.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
9 citations
,
September 2022 in “Journal of Clinical Investigation” In this study, mouse models of 22q11.2 deletion syndrome showed that growth issues in small embryonic thymuses were linked to mesenchymal cells, which could be corrected by substituting with normal mesenchyme.
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.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
4 citations
,
December 2016 in “Blood” This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.
26 citations
,
January 2011 in “Open Journal of Genetics” In this study, researchers identified five unique sequences of the ovine KAP13-3 gene, with potential implications for wool traits due to observed amino acid changes.
1 citations
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January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
38 citations
,
June 2005 in “Matrix Biology” Minoxidil affects collagen-related genes, potentially helping treat fibrosis.
8 citations
,
January 2006 in “Pakistan Veterinary Journal” This study demonstrates that bacteria contribute to hair follicle neogenesis after skin wounding through IL-1R1 signaling in keratinocytes.
July 2025 in “Archives of Toxicology” The study introduced an advanced skin model, ImmuSkin-MT, which effectively distinguished between different strengths of skin sensitizers by mimicking the interaction of immune cells in skin tissue.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
11 citations
,
March 2001 in “Clinics in Dermatology” This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.
829 citations
,
May 2007 in “Nature” Hair follicles can regrow in wounded adult mouse skin using a process like embryo development.
61 citations
,
May 2016 in “Scientific reports” This study found that IMT-P8, a novel cell-penetrating peptide, effectively facilitated the dermal delivery of proteins and peptides in mouse skin and cell lines, suggesting potential for topical applications in cosmetics and skin diseases.
1308 citations
,
March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
451 citations
,
March 2005 in “Endocrine Reviews” This paper discusses the role of steroid sulfatase in hormone-dependent tumors and highlights the development of potent inhibitors, noting the commencement of a phase I trial for one inhibitor in postmenopausal breast cancer patients.
425 citations
,
January 2021 in “SN Applied Sciences” This article highlights the versatility and potential of alginate and its derivatives in tissue engineering applications, discussing their properties, modification techniques, and various uses in enhancing tissue healing, bone regeneration, and cell growth.
421 citations
,
January 2015 in “Chemical Society Reviews” This review discusses recent advances in surface modification and endothelialization of biomaterials for vascular grafts, highlighting promising methods like gene engineering and targeting ligand immobilization to improve clinical outcomes.
245 citations
,
January 2018 in “Bone Research” This review discusses the role of TGF-β signaling in stem cell recruitment and tissue regeneration, indicating that abnormalities in TGF-β activation contribute to various major diseases and suggesting avenues for therapeutic intervention.
193 citations
,
January 2015 in “International journal of trichology” This review examines hair cosmetics, including shampoos and conditioners, for their formulations and effects, but reports no new clinical findings; it emphasizes the importance of dermatologist knowledge in treating diverse hair conditions.