50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
44 citations
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September 2014 in “Cell Death & Differentiation” This review discusses the role of tumor suppressors in controlling tumor-associated inflammation and suggests that targeting this inflammation may counteract the effects of tumor suppressor loss.
39 citations
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May 2011 in “Human Immunology” This review discusses findings from genetic studies on acne, highlighting progress in understanding its molecular pathogenesis without reporting new clinical results.
28 citations
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October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
26 citations
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December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
24 citations
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July 2017 in “Structure” In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.
11 citations
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November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
11 citations
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July 2016 in “Current Opinion in Cell Biology” This review discusses stem cell behavior, highlighting their plasticity in tissue repair and the impact of somatic mutations on clonal expansion in early cancer, but reports no new experimental results.
11 citations
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November 2014 in “Behavior Genetics” 5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
5 citations
,
February 2019 in “PloS one” This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.
4 citations
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December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
2 citations
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August 2023 in “Die Dermatologie” This review discusses the molecular pathology of progeroid syndromes and reports no new results; the authors emphasize understanding these mechanisms to develop treatments and potentially improve quality of life for affected individuals.
2 citations
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June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
2 citations
,
May 2023 in “Journal of Advanced Research” In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.
2 citations
,
January 2021 in “Case reports in endocrinology” In this case report, a girl with autoimmune polyglandular syndrome type 1 experienced stabilized disease and reversal of alopecia universalis after treatment with glucocorticoids and methotrexate.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
2 citations
,
November 2011 in “InTech eBooks” This article reviews the types and characteristics of adrenal cortex tumors, including their hormone secretion and detection as incidental findings, but presents no new research results.
December 2025 in “Cureus” This case report highlights that scarring alopecia with features of dystrophic epidermolysis bullosa and lichen planopilaris can occur in patients with a COL7A1 mutation, emphasizing the need to recognize concurrent inflammatory causes.
This study found that inhibiting AP-1 transcription factors in mice causes squamous tumors to transform into sebaceous tumors and regulates tumor cell lineage.
This study found that inhibiting AP-1 activity in mice can induce lineage transdifferentiation between squamous and sebaceous tumors, suggesting AP-1's role in maintaining tumor cell identity.
November 2022 in “Frontiers in pediatrics” This case report found that a child with acrodermatitis enteropathica showed significant improvement in symptoms after continuous zinc supplementation and identified two SLC39A4 mutations through genetic sequencing.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
January 2012 in “Methods in pharmacology and toxicology” This review discusses the expanding understanding of TRPV3's role in pain and skin pathology, while highlighting the need for further pharmacological research to fully resolve its functions.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
November 2008 in “Medical & surgical dermatology” This study reports that a prototype device may accurately measure changes in hair quantity, diameter, and density in patients with balding by assessing the cross-sectional area of hair bundles.
July 2004 in “British Journal of Dermatology” This paper summarizes the main findings presented in the plenary sessions of the British Journal of Dermatology, July 2004 issue, and provides no new research results.
January 2000 in “BioScience” The document concludes that understanding hair biology is key to treating hair disorders, with gene therapy showing potential as a future treatment.
36 citations
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October 1996 in “Dermatologic Clinics” In this study, a methanol extract of Eclipta alba was found to have dose-dependent hair growth-promoting activity in C57BL6 mice.