1 citations
,
November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
48 citations
,
November 1992 in “International Journal of Dermatology” This article discusses the history and terminology of toxic epidermal necrolysis but reports no new clinical results.
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.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
17 citations
,
January 2012 in “IOSR Journal of Environmental Science Toxicology and Food Technology” This study found that high doses of ethyl acetate extract from Tridax procumbens can have specific toxic effects in rats, including organ damage and significant changes in some serum biochemical parameters.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
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.
September 2023 in “Journal of the American Academy of Dermatology” CTP-543 is generally safe for treating alopecia areata.
8 citations
,
September 2022 in “Human genomics” This study identified a coexpression network and key genes associated with thyroid eye disease, potentially aiding in its treatment and diagnosis.
48 citations
,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
24 citations
,
February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
68 citations
,
April 2012 in “Digestive and Liver Disease” This study found that both Elental and 6-mercaptopurine were effective for maintaining remission in Crohn's disease, without a significant difference between them over 24 months.
12 citations
,
December 2020 in “Archives animal breeding/Archiv für Tierzucht” This study found that EDA and EDAR are expressed throughout cashmere goat fetal development and play a critical role in hair follicle formation by influencing gene expression in fibroblasts and epithelial cells.
June 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study found a specific T cell receptor that may be key in carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis, suggesting potential therapeutic targets.
January 2024 in “Frontiers research topics” This research abstract outlines the innovative approach of the Frontiers journal series, which aims to transform academic publishing by providing open access, interdisciplinary journals that employ a rigorous peer-review process to serve both scholarly communities and the public.
January 2004 in “Indian Journal of Nephrology”
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
1 citations
,
April 2022 in “The Journal of Urology” This study observed that discontinuation rates due to side effects were similar for penicillamine and tiopronin among cystinuria patients, and switching to the alternative agent was beneficial for half of those experiencing issues.
19 citations
,
June 2011 in “British Journal of Dermatology” Severe digestive issues in DRESS need early endoscopy for better treatment.
208 citations
,
November 2000 in “Development” This study found that while Eda and Edar proteins interact in vitro, their roles in dental development differ, with downless mutant mice showing distinct tooth defects compared to tabby mutants.
2 citations
,
January 2020 in “Evidence-based Complementary and Alternative Medicine” This study found that Hataedock may alleviate atopic dermatitis symptoms in mice by maintaining skin homeostasis and improving skin barrier formation through the endocannabinoid system.
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
9 citations
,
March 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that the maintenance and morphogenesis of skin appendages rely on both the dose and duration of ectodysplasin signaling.
February 2010 in “Journal of the American Academy of Dermatology” This case report describes a 4-month-old boy with anhidrotic ectodermal dysplasia and immunodeficiency who showed minimal improvement with initial treatments but significant improvement after an umbilical cord blood transplantation.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
4 citations
,
February 2023 in “Research Reports in Clinical Cardiology” This study found that the ACE gene DD genotype and D allele are linked to an increased risk of hypertensive IHD complications, with dyslipidemia also identified as a significant risk factor for ischemic heart disease.
28 citations
,
September 2014 in “Journal of Veterinary Internal Medicine” This study found that the novel drug VDC-1101 showed a 45% objective response rate in treating canine cutaneous T-cell lymphoma, offering a potential treatment option for this challenging disease.
May 2025 in “The Journal of Rheumatology” This case report highlights the importance of trans-esophageal echocardiography in distinguishing Libman-Sacks endocarditis from infective endocarditis in systemic lupus erythematosus patients, guiding appropriate treatment for associated cerebrovascular disease.