76 citations
,
May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
22 citations
,
March 2017 in “Scientific reports” This study investigated the role of NLRP3 inflammasomes in alopecia areata and found that outer root sheath cells may contribute to inflammation by increasing IL-1β and HMGB1 secretion when stimulated with double-stranded RNA.
85 citations
,
October 2015 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that NF-κB signaling may connect injury response to regenerative processes in zebrafish hearts, potentially aiding the development of cardiac regenerative therapies in humans.
80 citations
,
January 1995 in “The American Journal of Medicine” Hair loss in androgenetic alopecia is caused by genetic factors and androgen excess, and can be treated with combined therapies.
23 citations
,
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” In this mouse study, NF-κB was shown to play a role in hair follicle cycling and morphogenesis, with specific activity patterns differing by hair type and involving noncanonical signaling for zigzag hair bending.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
May 2018 in “International Journal of Advances in Medicine” This study reports the successful management of acute liver failure in a 25-year-old woman with concurrent Hepatitis B and autoimmune hepatitis, using a combination of steroids, azathioprine, and tenofovir disoproxil fumarate.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
11 citations
,
December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
8 citations
,
January 2014 in “Annals of Dermatology” This study found that TGF-β1 expression in follicular tumors correlates with differentiation degree and suggests its potential role alongside p63 in differentiating between sebaceous and follicular tumors.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
November 1919 in “The Journal of Hellenic Studies” The bronze head shows the high skill and beauty valued by ancient Greek sculptors.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
14 citations
,
February 2018 in “Psychoneuroendocrinology” This study found that male 5α-reductase 2 knockout mice showed deficits in social dominance behaviors and reduced dopamine receptor binding in a brain region related to social ranking.
2 citations
,
April 2017 in “Molecular Medicine Reports” In this study, blocking autophagy with 3-methyladenine significantly improved the survival of inner ear hair cells in a gentamicin-induced ototoxic mouse model.
June 2026 in “International Journal on Science and Technology” This source redefines anti-aging medicine as "precision healthspan pharmacology," suggesting that rather than just treating diseases or accepting aging, pharmacology should focus on expanding functional capacity across various health domains, while emphasizing the importance of fundamental physiological and psychosocial health factors.
20 citations
,
September 2005 in “Endocrinology” This study identified novel selective androgen receptor modulators with enhanced in vivo pharmacological activity through structure-activity relationship analysis in castrated rats.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
70 citations
,
December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
October 2003 in “Journal of the Royal Society of Medicine” This review of Leon Sperling's Atlas of Hair Pathology discusses the visual and diagnostic value of its comprehensive coverage on hair and scalp diseases but reports no new clinical findings.
This study found that dominant mutations in the mouse agouti gene lead to maturity-onset obesity, with weight increases starting around 4 weeks and peaking between 8 and 17 months.
6 citations
,
August 2012 in “The Journal of Pediatrics” This case report describes a 12-year-old girl diagnosed with monilethrix, characterized by fragile, beaded hair shafts, with no effective treatment currently available.
48 citations
,
August 1998 in “Developmental Biology” In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.
32 citations
,
November 2020 in “UNC Libraries” This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
11 citations
,
July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
May 2018 in “Actas Dermo-Sifiliográficas” This study validated a Spanish version of the Hair Specific Skindex 29 scale for assessing quality of life in women with female androgenetic alopecia, showing similar psychometric properties to the original.