July 2024 in “Journal of Investigative Dermatology” Human hair follicles have their own thyroid hormone system.
12 citations
,
March 2004 in “Journal of Investigative Dermatology” 58 citations
,
February 2013 in “Journal of Biological Chemistry” This study identifies specific molecular components involved in the intracellular trafficking of LGR5, revealing mechanisms that differ from typical GPCR recycling processes.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
8 citations
,
January 2013 in “genesis” This study identified a new transcriptional repressor, Zfp157, as a target of Stat6 in the mammary gland, expressing in various tissues during mouse embryogenesis and adulthood.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” This article reviews genetic mutations linked to monilethrix, a hereditary hair disorder, and reports no new clinical findings on the condition's variability in symptoms and severity.
14 citations
,
October 2015 in “PLoS ONE” This study found that keratins 5, 7, 8, and 19 are expressed in human trophoblast cells while vimentin is solely expressed in stromal-mesenchymal cells, aiding in placental cell type identification.
24 citations
,
April 2017 in “Oncology Reports” In this study, full-size KRT81 was expressed in both normal breast epithelial and breast cancer cells, and contributed to the migration and invasion abilities of breast cancer cells.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
January 2017 in “Journal of Chemical Biological and Physical Sciences” This study found that human hair keratin genes contain a few simple sequence repeats, with one repeat in the exon of KRT31 and additional repeats in introns, varying in length compared to their orthologues.
141 citations
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February 1988 in “Molecular and Cellular Biology” This study found that despite strong homology between two K16 genes, only one encoded a functional protein that assembled into keratin filaments in epithelial cells, possibly due to promoter strength differences.
3 citations
,
March 2016 in “Experimental Dermatology” This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.
3 citations
,
June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
2 citations
,
January 2000 in “Journal of Toxicologic Pathology” This study identified a single autosomal recessive gene responsible for hypotrichosis in a mutant rabbit strain, affecting hair growth and causing epidermal and hair follicle abnormalities.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that structural and biochemical analysis of steroid 5α-reductases clarifies how they mediate steroid reduction with NADPH, potentially aiding in designing targeted therapies.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In a keratinocyte-specific knockout mouse model, this study found that deleting GRK2 disrupted hair follicle homeostasis, causing cyst-like structures, abnormal growth patterns, and eventual hair loss, suggesting potential links to immune-mediated alopecias.
88 citations
,
August 2019 in “Nature communications” In this study, researchers identified a specific T cell receptor associated with carbamazepine-induced severe cutaneous adverse reactions, demonstrating its potential for therapeutic development in patients with the HLA-B*15:02 genotype.
13 citations
,
November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
This study found that hair germ and epidermal basal cells differ in keratin expressions in rat hair tissues, with hair-specific keratins appearing after the differentiation of each layer.
27 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” 60 citations
,
December 2003 in “Journal of Investigative Dermatology” This study found that keratin 6hf, a type II keratin, is expressed in specific regions of mouse and human hair and suggests potential interactions with keratin 17, impacting hair development and associated disorders.
2 citations
,
January 2009 in “Human cell culture” November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
7 citations
,
September 2006 in “Molecular Carcinogenesis” This study observed that K5Cre +/+ transgenic mice develop a distinct phenotype characterized by wavy hair, curly whiskers, and an increased rate of papilloma malignant transformation.
56 citations
,
November 2007 in “Molecular and cellular endocrinology” This study identified enzymes responsible for regulating androgen action in the human prostate, suggesting that inhibiting AKR1C2 or RL-HSD may have therapeutic potential in androgen insufficiency or benign prostatic hyperplasia, respectively.
84 citations
,
September 2008 in “Developmental biology” This study found that cellular retinoic acid-binding proteins and fatty acid-binding proteins are dynamically expressed in skin development and respond differently to retinoic acid, β-catenin, and Notch signaling.
89 citations
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May 2005 in “Stem Cells” This study found that keratinocyte stem cells in mouse skin are closely related to side population or BCRP1-positive cells based on their localization and marker expression.
January 2024 in “Arquivos de Neuro-Psiquiatria” This case study reported on a 49-year-old male with muscle weakness and low potassium levels, suggesting a diagnosis of thyrotoxic hypokalemic periodic paralysis.
28 citations
,
March 1993 in “Journal of Cell Science” In this study, rabbit esophageal epithelial cells were found to produce K4 and K13 keratins in suprabasal cells, forming disulfide-crosslinked dimers that may support the physical stability of the esophageal lining.