14 citations
,
February 1991 in “FEBS Letters” This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.
June 2007 in “Journal of Investigative Dermatology”
9 citations
,
March 2012 in “Experimental dermatology” This meeting report discusses the first symposium on natural gene therapy for skin, preceding the 41st annual meeting of the European Society for Dermatological Research, and reports no new experimental findings.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
December 2025 in “Journal of the European Academy of Dermatology and Venereology” This source states that an image was mistakenly misused in the supplementary materials but clarifies that this does not impact the study's main findings. The authors have corrected the error for accuracy and transparency.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
7 citations
,
November 2020 in “Experimental Dermatology” This article reviews skin regeneration and fibrosis, identifying key cellular and molecular players, and emphasizing the potential to manipulate the postwound environment to promote regeneration over fibrosis.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
August 2024 in “STAR Protocols” This study details a step-by-step protocol for preparing mammalian skin samples, including hair follicles, for spatial transcriptomics to overcome challenges inherent in applying this technique to the skin.
1 citations
,
November 2021 in “Drug Testing and Analysis” This collection from the 2021 Manfred Donike Workshop outlines advancements in doping detection, highlighting new test methods and challenges, with a focus on steroidal substances, peptide hormones, and gene doping analysis.
January 2004 in “Chinese Journal of Dermatology” This study found that intradermal injection of specific oligonucleotides altered hair growth and morphology in mice by inducing a dominant mutation in the K17 gene.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.
2 citations
,
June 2000 in “Journal of The American Academy of Dermatology” In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.
17 citations
,
January 2007 in “Annals of Medicine” This review discusses advancements and challenges in cutaneous gene therapy using direct and indirect techniques, noting that while clinical translation has begun, further developments are essential for progress.
15 citations
,
April 2002 in “British Journal of Dermatology” This study found no strong evidence that the human hairless gene is significantly involved in the development of androgenetic alopecia, though a minor role cannot be completely ruled out.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
6 citations
,
July 1994 in “Journal of Dermatological Science” This study found that introducing the recombinant rat OTC gene into SPF-ASH mice restored normal hair growth and metabolic function, improving symptoms associated with OTC deficiency.
34 citations
,
September 2003 in “Journal of Investigative Dermatology Symposium Proceedings” This review discusses advancements in gene delivery to hair follicles and suggests potential gene therapy applications for treating hair loss, but it reports no new experimental results.
In this study, introducing the rat OTC gene into spf-ash mice led to increased OTC activity and normalized hair growth and biochemical markers like urinary orotic acid and serum citrulline, partially correcting the symptoms of OTC deficiency.
15 citations
,
December 2017 in “Journal of Investigative Dermatology” This study identified two genome-wide significant genetic associations with seborrheic dermatitis, suggesting a potential genetic susceptibility contributing to the disease's pathogenesis.
9 citations
,
March 2009 in “Psychoneuroendocrinology” This study found that variations in the androgen receptor gene influenced memory function in women, with GGN repeat polymorphisms significantly affecting logical memory performance only in females.
January 2023 in “Springer eBooks” This review discusses the causes, characteristics, and current management strategies for epidermolysis bullosa, emphasizing that while experimental therapies show promise, there are no definitive cures.
2 citations
,
October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
January 2011 in “Humana Press eBooks” This article reviews current classifications of primary scalp alopecias into scarring and nonscarring types and notes that the causes of many are still unclear, calling for further investigation.
22 citations
,
March 2023 in “Bioengineering” This review discusses stem cell therapy as a promising treatment for epidermolysis bullosa, highlighting preliminary successes in treating skin lesions but noting the need for further research on effectiveness and safety.
1 citations
,
October 2012 in “Medical Hypotheses” The conclusion suggests that treatments targeting root causes of chronic diseases may be developed by focusing on gene expression and lifestyle factors.
11 citations
,
March 2001 in “Clinics in Dermatology” This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.
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.
3 citations
,
February 2001 in “British journal of ophthalmology” This case report presents a 28-year-old woman with alopecia universalis and macular dystrophy, highlighting a potential new linkage between these conditions without previously identified associated genes.