34 citations
,
July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
8 citations
,
July 1986 in “International Journal of Dermatology” This article discusses eruptive vellus hair cysts, detailing their appearance, distribution, histology, and potential spontaneous resolution, but reports no new clinical findings on treatment.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.
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.
April 2023 in “Journal of Investigative Dermatology” In this study, a mouse model of scarring alopecia demonstrated significantly reduced CD200R expression in affected skin, which may contribute to immune attacks on hair follicles.
12 citations
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September 2013 in “BMC Biophysics” This study developed a model showing that keratin elasticity in skin may be influenced by electrostatic and bridging interactions between keratin filaments, contingent on the balance of charges in the surrounding medium.
5 citations
,
September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.
January 1994 in “SÖFW. Seifen, Öle, Fette, Wachse” This article reviews the cosmetic properties of D-panthenol, noting its moisturizing and hair-strengthening effects, but reports no new clinical results.
27 citations
,
December 2005 in “Journal of Cutaneous Pathology” This study found that while malignant pilomatricomas maintain some keratin expression patterns seen in benign counterparts, they notably express additional epithelial keratins, potentially influencing tumor calcification.
2 citations
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January 2020 in “Enlighten: Theses (The University of Glasgow)” This study found that alopecia areata is associated with distinct systemic and tissue immune signatures, with macrophages implicated as contributors to hair loss, suggesting potential therapeutic targeting of macrophage activity.
148 citations
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May 2012 in “The American Journal of Human Genetics” This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
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.
22 citations
,
October 1996 in “Dermatologic clinics” This review summarizes recent advances in understanding intermediate filament structure and their implications for pathological mutations and human diseases, but it reports no new experimental results.
29 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
21 citations
,
April 2010 in “Pediatrics in Review” This article reviews various causes and diagnostic approaches to delayed puberty in boys and girls and does not report any new clinical findings; it emphasizes the importance of distinguishing between different underlying conditions.
20 citations
,
March 2019 in “Case Reports in Dermatology” This report describes two cases where patients developed alopecia while undergoing treatment for psoriasis with IL-17 inhibitors, suggesting an unexpected paradoxical reaction.
6 citations
,
January 2008 in “Indian Journal of Dermatology” This case report describes a rare autosomal dominant hair shaft disorder, monilethrix, observed in three consecutive generations of a family, with gradual improvement noted with age.
2 citations
,
February 2025 in “Journal of Investigative Dermatology” In this study, researchers used quantitative fate mapping to investigate how the infundibulum, part of the epidermis, is maintained during adulthood, finding that progenitors maintain this tissue through stochastic cell fate choices, with cells at the bottom providing transient support during hair growth phases.
2 citations
,
January 2002 in “Clinics in Dermatology” This review details the characteristics, associations, and differential diagnoses of vitiligo and reports no new clinical findings.
1 citations
,
July 2023 in “Clinical Cosmetic and Investigational Dermatology” In this report, a 54-year-old woman with familial dyskeratotic comedones showed slight improvement in skin lesions after topical retinoids and urea cream. This source also describes the first dermoscopic findings for this condition and reviews 21 previous cases.
October 2024 in “Skin Research and Technology” This report describes several cases of pili annulati in children, highlighting its genetic predisposition and distinctive "zebra stripe" hair pattern, but notes no effective treatment is available.
December 2023 in “Journal of Cutaneous Immunology and Allergy” In this case report, a 41-year-old male developed myasthenia gravis following alopecia areata, with prednisolone and tacrolimus improving his symptoms; a literature review identified 29 reported cases of this comorbidity, with some showing additional autoimmune diseases, suggesting a shared immunological mechanism.
October 2023 in “Indian dermatology online journal” This report describes a case study of a 23-year-old female exhibiting multiple trichodiscomas, a type of benign tumor of the hair follicular discs common in familial cases and potentially linked to Birt-Hogg-Dube syndrome, though genetic testing was not performed due to financial constraints.
December 2020 in “Dermatology practical & conceptual” Trichoscopy helped diagnose a teenage girl's hair loss as monilethrix.
215 citations
,
September 2003 in “Journal of Biological Chemistry” This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
45 citations
,
October 2018 in “JCI Insight” In a preclinical mouse model, this study found that early treatment with the selective SYK inhibitor entospletinib significantly improved survival rates and clinical outcomes for graft-versus-host disease after hematopoietic stem cell transplantation compared to placebo.
32 citations
,
November 1998 in “Journal of Biological Chemistry” This study found that the unique functions of keratin 16 are likely determined by its tail domain, challenging the previous hypothesis about the role of the helix 1B subdomain.
27 citations
,
January 2000 in “Developmental Dynamics” This study reports that a new nude allele, nu(StL), encodes a truncated Whn transcription factor affecting T-cell development and keratin gene expression, with notable differences from the original Whn(nu) mutation.