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.
6 citations
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November 2018 in “American journal of transplantation” This study reported that using UVB preirradiation and anti-CD154 antibody treatment in a humanized mouse model prolonged hair follicle allograft survival and reduced immune cell infiltration without needing generalized immunosuppression.
2 citations
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November 1996 in “Transplantation” This study found that intrathymic injection of recipient-type splenocytes into donor rats, combined with antilymphocyte antiserum, effectively prevented graft-versus-host disease for up to 300 days.
This study demonstrated that cryogelation of human hair keratin allows the development of 3D scaffolds with tunable properties, supporting cell adhesion and proliferation for potential biomedical applications.
October 2023 in “European Journal of Dermatology” In a study of 147 patients with androgenic alopecia, those who received hair transplantation combined with platelet-rich plasma injections experienced better hair regrowth and smaller areas of hair loss compared to those who only had hair transplantation.
11 citations
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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.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
7 citations
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February 2002 in “Veterinary Dermatology” This study found that intracorneal vacuoles were common in various parakeratotic skin diseases in dogs, but large vacuoles were exclusively observed in congenital follicular parakeratosis.
3 citations
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July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
This review summarizes the proposed model that describes how different shapes of 1alpha,25(OH)2D3 ligands interact with the vitamin D receptor to mediate genomic and rapid responses in cells.
January 2014 in “Encyclopedia of Health Communication” This case report describes unexpected hair regrowth with restored thickness and color in a 78-year-old male after VMAT treatment for scalp cancerization, noting the patient's satisfaction with these results.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
3 citations
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January 2014 in “Archives of Aesthetic Plastic Surgery” This study found that using a combination of video microscope for slivering and loupe magnification for graft-cutting in hair transplants achieved nearly double the graft productivity with similar transection rates compared to using only a digital video microscope.
1 citations
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June 2014 in “[Thesis]. Manchester, UK: The University of Manchester; 2014.” This study found that chemically modifying human hair through esterification or disulfide reduction and alkylation affects the hair's viscoelastic properties, including stability, integrity, and response to moisture.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
3 citations
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March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” This study in hairless rats suggests that the deletion of specific hair keratin genes contributes to hypotrichosis and highlights the strain's potential as a model for hair follicle research.
8 citations
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March 2014 in “American Journal of Pathology” This study found that hairless mice with homozygous mutations developed significantly more aggressive basal cell carcinomas and a heightened inflammatory response to UVB exposure compared to their haired littermates.
January 2013 in “Российский журнал кожных и венерических болезней” This study found that intradermal injections of group B vitamins and cystin B6 complex improved scalp circulation, supported hair growth, and reduced hair loss in patients with diffuse alopecia.
This study reports that using stamps to mark scalp incisions with gentian violet ink and a barrier film improved incision symmetry and maintained slot visibility for hair graft insertion in the frontal region.
12 citations
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December 2011 in “Journal of Dermatological Science” This study suggests that the C-terminal of AHF is crucial for its binding to keratin bundles and modulating the keratin meshwork in hair follicles.
January 2026 in “International Journal of Dermatology” This review examines the androgen-dependent subtype of acquired progressive kinking of the hair and suggests it may be an early indicator of androgenetic alopecia, emphasizing the importance of distinguishing between subtypes for clinical decisions.
January 2009 in “Hair transplant forum international” This article discusses a patient's post-operative bleeding but does not report any new research findings.
32 citations
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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.
March 2006 in “The FASEB Journal” This study found that mice lacking the vitamin D receptor showed disrupted hair follicle cycling and balance between cell proliferation and differentiation, highlighting VDR's role in hair cycling regulation.
35 citations
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October 2002 in “Biochemical and Biophysical Research Communications” This study reports that K7 expression patterns observed in mice are similar to those in humans, revealing previously unreported expression in the gastrointestinal tract, tongue, and various "hard" epithelial tissues.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.
3 citations
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January 1998 in “ACTA HISTOCHEMICA ET CYTOCHEMICA” This study used rapid-freezing immunocytochemistry to successfully map the ultrastructural localization of hair keratins in human scalp hair, primarily finding them in macrofibrils in the cortex and endocuticle.
148 citations
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May 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the vitamin D receptor (VDR) developed skin tumors more rapidly than those with normal VDR activity, regardless of 1,25-dihydroxyvitamin D(3) presence.
26 citations
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December 2003 in “Experimental Dermatology” In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.