April 2019 in “Journal of Investigative Dermatology” This study found that post-hematopoietic cell transplantation epidermal grafting significantly reduced chronic wound size in patients with recessive dystrophic epidermolysis bullosa.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
20 citations
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August 2020 in “Scientific Reports” In this study, low-dose BPA was associated with induced prostatic hyperplasia in rats, potentially mediated by COX-2 and L-PGDS through pathways involving cell proliferation and apoptosis.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, silencing P-cadherin in human scalp hair follicles reduced melanogenesis and associated protein expression, suggesting P-cadherin is crucial for normal hair pigmentation via GSK3β-mediated Wnt signaling.
2 citations
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January 2023 in “BMC plant biology” This study found that root hair length and density in rice are controlled by distinct genomic regions, with 18 regions identified but no overlap between the traits.
18 citations
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December 2016 in “European journal of pharmacology” In this study, 12-Chloracetyl-PPD showed anti-cancer activity by inhibiting cancer cell viability and inducing apoptosis through reactive oxygen species production without harming normal cells.
9 citations
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May 2022 in “Drugs in Context” This report describes the successful use of sonidegib in treating two cases of locally advanced basal cell carcinoma, leading to remission in both instances, and reducing lesions in a patient with Gorlin syndrome, while noting mild side effects consistent with the drug's known profile.
26 citations
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September 1999 in “Canadian Journal of Botany” This study found that a recessive mutation in the RHD4 gene of Arabidopsis thaliana leads to slower and more variable tip growth in seedling root hairs, resulting in shorter and wider hairs than in wild-type plants.
March 2026 in “Folia Histochemica et Cytobiologica” This review highlights LTBP1 as a critical integrator in disease processes, showing its dual role in cancer progression and suppression, its pathological influence in fibrosis, and its contribution to various disorders, suggesting its potential as a biomarker and therapeutic target.
2 citations
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January 2021 in “American Journal of Case Reports” This case report details a 13-year-old Thai boy with Hutchinson-Gilford progeria syndrome, who presented with cardiovascular complications, including coronary artery calcification and non-ST-segment elevation myocardial infarction.
78 citations
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August 2012 in “Human molecular genetics online/Human molecular genetics” This study found that three genetic loci, including the newly identified JMJD1C, are associated with circulating testosterone and dihydrotestosterone levels, explaining a small portion of their variance in European men.
29 citations
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January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
This study found that Pygo2 is crucial for early intestinal hyperproliferation induced by stabilized β-catenin, suggesting it as a potential target for therapeutic intervention in cancers with β-catenin mutation.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
April 2019 in “Journal of Investigative Dermatology” This study found that induced COX-2 expression in adult transgenic mice led to hair follicle miniaturization and enlargement of sebaceous glands, and suggests that targeting the PGD2 pathway might reverse these effects.
58 citations
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June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
November 2022 in “Journal of Investigative Dermatology” This study provides evidence that ILC1-like cells can induce alopecia areata in previously healthy human hair follicles, challenging the view that it is solely an autoantigen-dependent autoimmune disease.
This study found that in mice, the epidermal microenvironment reverses the oncogenic effects of GNAQQ209L in melanocytes, inhibiting their survival and proliferation through paracrine signals.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
This study found that GNAQQ209L expression in mouse melanocytes led to reduced survival in the interfollicular epidermis due to paracrine signaling, while GNAQQ209L boosted survival in a different microenvironment.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
August 2022 in “Tissue Engineering Part A” This study observed that using ex vivo gene therapy to modify skin cells in a pre-graft model improved dermal-epidermal junction adhesion strength and maintained collagen production over time, suggesting a potential treatment approach for recessive dystrophic epidermolysis bullosa skin wounds.
January 2025 in “SSRN Electronic Journal” This study developed a bioinspired hydrogel (BD@HH6) that exhibited strong antimicrobial and antioxidant properties, accelerated wound healing in mice by promoting angiogenesis and reducing inflammation, and represents a potential new approach for managing chronic wound infections without relying on antibiotics.
150 citations
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June 1999 in “Oncogene” 6 citations
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February 2024 in “JAAD International” ChatGPT is preferred for creating dermatology patient handouts, but all models can be useful with oversight.
January 2016 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A substance called prostaglandin D2 is found more in bald scalps and it stops hair from growing. Blocking its receptor could potentially treat hair loss.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
35 citations
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April 1998 in “PubMed” This study found that activating the erbB-2 oncogene in transgenic mice led to severe skin abnormalities and fatal defects, indicating erbB-2's significant role in skin and hair follicle development.
June 2025 in “Molecular Genetics & Genomic Medicine” This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.