1 citations
,
January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
January 2026 in “Asian Journal of Pharmaceutical and Clinical Research” This review discusses the potential of umbilical cord blood and umbilical cord-derived stem cells in treating various chronic diseases by highlighting their regenerative abilities and ethical advantages as well as the translational challenges and clinical implications.
Bee pollen, green tea, essential oils, and various plant extracts improve skin and hair health.
This article reviews various topics including medically important plants in dermatology, supporting medicinal herbs for primary dysmenorrhea, and several drug delivery systems, without providing new clinical findings.
September 2022 in “Farmacja Polska” This review discusses the role of biotin in enzyme function and its effects on hair, skin, and nail health, noting that significant improvements are mostly seen in people with biotin deficiency, and reports no new clinical results.
January 2022 in “Medical research archives” This article reviews the potential role of vitamin D supplementation as an adjunct to alemtuzumab therapy in multiple sclerosis management, noting its possible benefits for autoimmune comorbidities and patient adherence, but reports no new clinical results.
December 2018 in “Neuroradiology” MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
September 2013 in “Neurodegenerative disease management” This review discusses teriflunomide as a disease-modifying therapy for multiple sclerosis and highlights its effectiveness and safety in clinical trials, but reports no new clinical results.
1 citations
,
March 2023 in “European Journal of Human Genetics” This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
2 citations
,
July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.
November 2025 in “Indian Journal of Dermatology” This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
April 2018 in “Journal of Investigative Dermatology” This study found that deleting all three Desmoglein 1 genes in mice led to impaired skin barrier function, disorganized epidermis, and postnatal lethality, highlighting Dsg1's essential role in epidermal development and maintenance.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
29 citations
,
October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
2 citations
,
January 2014 in “Elsevier eBooks” This review discusses drug-induced hypersensitivity syndrome and drug reaction with eosinophilia and systemic symptoms, highlighting clinical features, potential viral reactivations, and treatment, but reports no new clinical findings.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
April 2023 in “Journal of Investigative Dermatology” This study found that patients with Stevens-Johnson syndrome and toxic epidermal necrolysis exhibit lower levels and activity of DNase1, impairing NET degradation, and suggests DNase1 administration as a potential treatment.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
April 2023 in “Journal of Investigative Dermatology” This study reviewed data from three hospitals and found that alopecia after DRESS occurred more often in severe cases, but the rate of corticosteroid treatment did not significantly differ between patients with and without alopecia.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
75 citations
,
January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.