52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
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.
36 citations
,
November 2000 in “Journal of the American Academy of Dermatology” This case study describes a unique patient with dermatomyositis who exhibited features of pityriasis rubra pilaris and porokeratosis, suggesting markers for malignancy warranting thorough investigation and monitoring.
This study found that the enzyme encoded by Dgat1 acts as a retinol acyltransferase in murine epidermis, protecting against retinoid toxicity and alopecia by preventing retinol accumulation.
1 citations
,
January 2018 in “Indian dermatology online journal” This case report presents a 14-year-old girl with both type I diabetes and monilethrix, detailing her symptoms and treatment with topical minoxidil, while exploring a possible genetic link between the conditions.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
45 citations
,
July 2002 in “The Neurologist” This article reviews the challenges of using disease-modifying therapy for multiple sclerosis and offers strategies to improve treatment adherence and manage adverse effects, but reports no new clinical findings.
41 citations
,
December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that deleting the MED1 subunit from the MED complex in keratinocytes resulted in disrupted hair differentiation and cycling, leading to hair loss in mice.
53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
37 citations
,
January 2006 in “Carcinogenesis” In this study, crossing mice overexpressing antizyme with MEK mutants significantly delayed tumor development and reduced tumor frequency, likely by slowing cell growth in skin tumors.
2 citations
,
September 2024 in “PLoS ONE” This study suggests that combining bendamustine with tucidinostat may improve survival in patients with relapsed or refractory adult T-cell leukemia/lymphoma, highlighting its potential for clinical investigation.
January 2014 in “www.virtualization.info” This study found that skin wound healing was accelerated in young but delayed in older Med1(epi-/-) mice compared to wild-type mice, suggesting age-dependent roles of MED1 in epidermal regeneration.
37 citations
,
May 2004 in “Multiple Sclerosis Journal” This article highlights adverse skin reactions due to injectable therapies for MS, noting that while generally mild, some cases can progress to serious lesions requiring medical intervention.
11 citations
,
December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
June 2018 in “The Journal of Sexual Medicine” In this study, finasteride was found to significantly reduce DHT levels and affect spermatogenic markers in rats, while DA-9401 co-treatment indicated potential ameliorative effects.
1 citations
,
January 1989 in “Carcinogenesis” This study found that dexamethasone treatment inhibited the inflammatory response and the induction of ornithine decarboxylase activity in mouse skin after TPA application, although the effect on ODC was weaker during the hyperplastic stage.
This case study documents a 55-year-old male with advanced NSCLC who experienced toe-predominant paronychia and a papulopustular rash following dacomitinib treatment, with the causality tools indicating a "probable" link, yet the therapy continued successfully without dosage alteration.
43 citations
,
April 2011 in “AJP Endocrinology and Metabolism” This study found that androgens increase Odc1 expression in skeletal muscle myoblasts, promoting proliferation and delaying differentiation.
9 citations
,
November 2000 in “Journal of the American Academy of Dermatology” This report presents a rare case of a patient with type Wong dermatomyositis who also exhibits clinical and histologic features of porokeratosis, potentially signaling associated malignancies in dermatomyositis patients.
October 2017 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study found that finasteride induced infertility and increased endoplasmic reticulum stress in rats, but these effects were mitigated by DA-9401 administration.
4 citations
,
May 2023 in “Pigment Cell & Melanoma Research” In this study, researchers found that deleting the Bmi1 gene in murine melanocytes caused premature hair greying and loss of melanocyte lineage cells, highlighting BMI1's role in protecting melanocyte stem cells from stress and oxidative damage.
This article reviews approved treatments for androgenetic alopecia and reports no new research findings, highlighting the need for further studies.
2 citations
,
May 2022 in “Advanced therapeutics” This study reported that a novel vasodilator drug called TOP-M119, when delivered using a specially designed dissolving microneedle system, showed enhanced targeting of hair follicles and effectiveness in treating alopecia, demonstrated through in vitro, ex vivo, and in vivo studies involving mouse skin.
This study found that deleting the Mad2l1 gene in mice leads to rapid onset of acute lymphoblastic leukemia and liver cancer due to induced chromosomal instability.
87 citations
,
March 2007 in “Biological Chemistry” In this study, targeted deletion of the stearoyl-CoA desaturase 1 gene in mice disrupted the epidermal lipid barrier, leading to increased water loss, impaired thermoregulation, and metabolic issues.
1 citations
,
October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
The research found that while Dnmt3a and Dnmt3b are not necessary for skin homeostasis in mice, the loss of Dnmt3a increases squamous tumor formation from carcinogens, and combined deletion of both results in more aggressive and metastatic tumors.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers used single-cell RNA sequencing to define and locate three distinct cell states of melanocytes in mouse skin development, potentially aiding the understanding of abnormal melanocyte differentiation.