January 2018 in “Journal of Investigative Dermatology” This quiz article provides a series of dermatological diagnosis questions based on a Journal of Investigative Dermatology article and includes explanations but reports no original research findings.
6 citations
,
November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
18 citations
,
May 2011 in “Journal of Investigative Dermatology” Wnt signaling affects the development and growth of Langerhans cells in mice.
37 citations
,
April 2011 in “Journal of Biological Chemistry” This study discovered a novel interaction between the vitamin D receptor and LEF1, essential for normal Wnt signaling in keratinocytes, which is crucial for regular hair cycling.
18 citations
,
September 2024 in “Journal of the European Academy of Dermatology and Venereology” This review found that the DLQI is widely used as a benchmark in the development and validation of dermatology quality-of-life measures.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
6 citations
,
January 2016 in “Bioorganic & Medicinal Chemistry Letters” This study reported that certain minoxidil conjugates, specifically those with spermine, methylenedianiline, and diaminofluorene, were able to induce differentiation in HL-60 acute myeloid leukemia cells without toxicity at a concentration of 10 μM.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
April 2016 in “Journal of Investigative Dermatology” This study reported that the absence of Lsh in skin led to significant epidermal hyperplasia and altered gene expression, suggesting its crucial role in regulating epidermal proliferation, differentiation, and wound healing.
16 citations
,
December 2018 in “ACS Biomaterials Science & Engineering” This research found that a biodegradable fibrous membrane incorporating fibroblast-derived ECM accelerated wound healing and improved neovascularization in a mouse model.
January 2025 in “Analytical Methods” This study reports the development of a fluorescent ionic liquid that shows high sensitivity and selectivity for detecting dextran sulfate sodium, with potential applications in clinical diagnostics and environmental monitoring.
143 citations
,
May 2002 in “PubMed” This study found that the retinoid LGD1069 suppressed mammary tumorigenesis in a mouse model without observable toxicity, while TTNPB showed modest effects but was associated with significant toxicity.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
28 citations
,
August 2013 in “Hypertension” The authors concluded that diazoxide reduces undesirable side effects compared to minoxidil while increasing elastic fiber content and decreasing cell number in the aorta, suggesting potential suitability for treating vascular conditions with low arterial elastin and hypertension.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
96 citations
,
September 1996 in “PubMed” This study demonstrated that murine monoclonal antibodies can reveal specific patterns of desmosomal cadherin expression, Dsc1 and Dsc3, in human tissues and cultured cells using immunofluorescence microscopy.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
17 citations
,
September 2018 in “Matrix Biology” The researchers reported that mouse keratinocyte-specific deletion of laminin γ1 led to delayed coat pigmentation due to impaired melanocyte migration and differentiation, linked to altered laminin composition in the basement membrane.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” In this study, transgenic mice with a truncated latent transforming growth factor-beta-binding protein showed reduced keratinocyte proliferation and alterations in the hair cycle due to mis-localization of transforming growth factor-beta.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
5 citations
,
September 2021 in “Journal of Molecular Histology” In this study, the researchers identified LHX2 as a specific marker for hair follicle placodes, differentiating them from eccrine sweat gland placodes through double immunofluorescence staining.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
July 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed a potent Wnt surrogate with high specificity for the Fzd7 receptor in mice, promoting full hair follicle regeneration and robust hair growth, suggesting potential applications in tissue development and targeted regeneration.
43 citations
,
February 2013 in “Developmental dynamics” This study found that Eda and activin A regulate Foxi3 expression, which may contribute to the development of hypohidrotic ectodermal dysplasia by affecting Foxi3 activity in ectodermal appendages like hair and teeth.
February 2009 in “Journal of The American Academy of Dermatology” This study suggests that fractional infrared technology may effectively improve cervical skin laxity by enhancing dermal thickness without adverse effects in a small pilot group.
9 citations
,
February 2021 in “Evidence-based Complementary and Alternative Medicine” This study reported that Longdan Xiegan decoction is more effective than conventional western medicine alone in treating eczema, but the evidence quality was generally low, highlighting the need for further studies.