16 citations
,
April 2024 in “Proceedings of the National Academy of Sciences” This study found that selectively targeting HDAC4 and HDAC7 in mice can reduce Th17 cell-mediated intestinal inflammation, suggesting a potential treatment approach for Th17-related inflammatory diseases like ulcerative colitis.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
10 citations
,
September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
3 citations
,
February 2001 in “British journal of ophthalmology” This case report presents a 28-year-old woman with alopecia universalis and macular dystrophy, highlighting a potential new linkage between these conditions without previously identified associated genes.
6 citations
,
July 2017 in “Biochemical and Biophysical Research Communications” This study found that mutations in the hairless gene disrupt normal hair follicle development by impairing Wnt/β-catenin signaling, affecting hair keratinocyte differentiation in both mice and humans.
175 citations
,
August 1997 in “Nature Genetics”
1 citations
,
April 2018 in “Revista da Sociedade Portuguesa de Dermatologia e Venereologia” This article reviews the prevalence, causes, and associated conditions of hidradenitis suppurativa, a chronic inflammatory skin disease, but reports no new clinical findings.
74 citations
,
October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
7 citations
,
August 2019 in “JAAD Case Reports” This article reviews the potential relationship between serum amyloid A and hidradenitis suppurativa, highlighting genetic influences, but reports no new clinical findings.
3 citations
,
May 2018 in “Experimental Dermatology” In this study, the researchers reported that patient impacts and symptoms of hidradenitis suppurativa, as assessed by HSIA and HSSA measures, are associated with clinical characteristics such as the number of abscesses and inflammatory nodules.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
2 citations
,
April 2008 in “Experimental Dermatology” This article reviews the pathophysiology of hidradenitis suppurativa and suggests that a complex interplay of genetic, immunological, and biomechanical factors contributes to the condition, but presents no new clinical findings.
1 citations
,
December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
18 citations
,
December 2010 in “Transplantation Proceedings” This study reported that black hairy tongue can occur after allogeneic stem cell transplantation and may indicate cutaneous graft-versus-host disease, highlighting the need for histopathologic evaluation.
30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
In a human genetic study on hidradenitis suppurativa, researchers identified 12 genetic risk loci and found that CXCR4-CD74 signaling may play a key role in hair follicle inflammation, suggesting CXCR4 blockade as a potential therapeutic approach for this condition.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
14 citations
,
April 2013 in “Journal of dermatological science” This study found that Hairless protein down-regulates Msx2 expression, affecting hair follicle formation in Hairpoor mice by altering the MSX2 regulatory pathway.
17 citations
,
September 2010 in “Pediatric dermatology” This report describes a case of widespread Porokeratotic eccrine and hair follicle nevus in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome, involving both eccrine ostia and hair follicle infundibula.
112 citations
,
January 2013 in “Experimental dermatology” This article offers a viewpoint on hidradenitis suppurativa pathogenesis, suggesting that impaired Notch signalling from γ-secretase mutations may drive inflammation and link the condition to other Th17-driven diseases.
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.
June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
43 citations
,
August 2010 in “Expert Opinion on Investigational Drugs” This review explores the potential of selective 11β-HSD1 inhibitors to improve insulin sensitivity in type 2 diabetes, emphasizing the need for more clinical research and reports no new clinical results.
December 2022 in “Research Square (Research Square)” In this study, a comprehensive treatment approach involving multiple therapies was found to play a crucial role in managing hidradenitis suppurativa in patients with intellectual and developmental disorders despite practical challenges.
1 citations
,
March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that HIF-P4H-2 function in FoxD1-lineage cells is crucial for normal hair follicle development and homeostasis in mice, implicating disrupted HIF, TGF-β, and Notch signaling pathways in associated defects.
July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Arabidopsis thaliana mutants with altered AtRBOHC/RHD2 enzyme function showed abnormal protein regulation linked to increased drought sensitivity due to disrupted plasma membrane protein balance and cytoskeleton changes, as revealed through proteomic analysis and advanced microscopy.
3 citations
,
May 2013 in “PubMed” This review discusses Hutchinson-Gilford progeria syndrome, highlighting its phenotype, pathogenesis, and its potential insights into natural aging and cardiovascular diseases, but it reports no new research findings.
1 citations
,
February 2023 in “Frontiers in Endocrinology” This study demonstrates that combining gene expression data with a random forest algorithm provides highly accurate diagnosis of childhood growth hormone deficiency, showing potential utility in distinguishing it from non-GHD short stature.
March 2011 in “Open Archive (Karolinska Institutet)” This study explored the effects of a common Hutchinson-Gilford progeria syndrome mutation in an inducible mouse model, revealing skin abnormalities similar to those in affected patients.
9 citations
,
November 1991 in “American Journal of Kidney Diseases”