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.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
21 citations
,
January 2022 in “Biomaterials Science” This article reviews CRISPR/Cas system delivery methods for genome editing and highlights RNA's promise in non-viral in vivo applications but reports no new clinical results.
29 citations
,
February 2022 in “Frontiers in Cell and Developmental Biology” This review discusses strategies to improve CRISPR/Cas systems by addressing limitations like off-target effects and delivery inefficiencies, offering practical guidance and highlighting future applications, but reports no new research findings.
11 citations
,
January 2000 in “Journal of Cutaneous Pathology” This paper reviews the role of the telomere-telomerase system in cellular ageing and cancer, discussing potential therapies but reporting no new experimental results.
145 citations
,
May 2008 in “Cancer Science” This review discusses how increased gene copy number for telomerase components may contribute to telomerase up-regulation in cancer cells, although the exact mechanisms are not fully understood.
Defective protein folding due to a mutation is key in ANE syndrome.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
60 citations
,
July 2020 in “ACS Nano” This review discusses the progress and challenges in delivering CRISPR/Cas9 systems for in vivo genome editing, highlighting current methods and opportunities for future therapeutic applications.
3 citations
,
July 2021 in “Cutis” This case report described a 62-year-old woman with dermatomyositis whose multiple subcutaneous nodules persisted despite treatment with prednisone and methotrexate, prompting further dermatological evaluation.
April 2026 in “The National Medical Journal of India” This case report highlights a 42-year-old woman with systemic lupus erythematosus who exhibited fundus changes indicating retinal vasculitis, underlining the importance of regular ocular fundus examinations for early detection of severe disease complications.
March 2026 in “Aging Research” This review provides a comprehensive synthesis of skin aging research, highlighting the interplay of genetic and environmental factors, cellular mechanisms, and advances in diagnostic and therapeutic strategies, while also addressing current debates and future directions in the anti-aging field.
In this case report, a 25-year-old female with Mixed Connective Tissue Disease presented unusual symptoms in a specific geographical region, prompting clinicians to approach diagnosis and management with caution due to potential severe complications such as pulmonary hypertension and renal crisis.
This study found that in the Indian population, SLE patients with only skin manifestations often had a positive immunological profile, suggesting early identification of disease before systemic symptoms develop.
December 2021 in “Journal of Rheumatic Diseases” In this case report, a 13-year-old girl with pediatric systemic lupus erythematosus experienced rare ischemic vaso-occlusive retinopathy as a first symptom, and early interventions improved her visual acuity and fever but did not fully restore vision.
March 2018 in “Suez Canal University Medical Journal” In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.
June 2016 in “Journal of Evolution of Medical and Dental Sciences” In this study of SLE patients in North-East India, oral ulcers were reported as the most common cutaneous manifestation, followed by malar rash and photosensitivity.
1533 citations
,
October 2008 in “Endocrine reviews” This research highlights that engineered mice lacking the vitamin D receptor show multiple health issues similar to human vitamin D deficiency, underscoring the widespread impacts of the vitamin D endocrine system.
211 citations
,
April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
178 citations
,
May 2006 in “Developmental Dynamics” This review discusses the role of jumonji family proteins in chromatin regulation and development, highlighting their involvement in transcriptional repression and histone demethylation, but reports no new experimental findings.
169 citations
,
June 2010 in “Molecular & cellular proteomics” This study suggests that ethylene and lignoceric acid (C24:0) may promote cotton fiber and Arabidopsis root hair growth by activating the pectin biosynthesis network.
149 citations
,
July 2002 in “Dermatologic clinics” This review discusses the pathogenesis, clinical presentation, diagnosis, and treatment of cutaneous lupus erythematosus, reporting no new clinical findings.
139 citations
,
December 2020 in “Cell Stem Cell” Male hormones affect COVID-19 severity and certain drugs targeting these hormones could help reduce the risk.
100 citations
,
November 2021 in “Cell Research” This study found that SARS-CoV-2 hijacks the host factor IGF2BP1 to stabilize its RNA and enhance translation, and identified Cepharanthine and Trifluoperazine as potential treatments against the virus.
77 citations
,
August 2025 in “Signal Transduction and Targeted Therapy” This review highlights the potential of extracellular vesicle-based therapies for treating various diseases, but it also notes challenges like the lack of regulatory guidelines that hinder their clinical development.
77 citations
,
July 2020 in “Cell” This study found that sympathetic nerves and arrector pili muscles form a niche that modulates hair follicle stem cell activity, revealing their role in hair follicle regeneration.
68 citations
,
September 2018 in “International Journal of Molecular Sciences” In this study, researchers found that exposure to PM10 significantly increased inflammation and impaired collagen synthesis in human dermal fibroblasts, suggesting PM10 contributes to skin aging through these mechanisms.
51 citations
,
June 2021 in “Signal Transduction and Targeted Therapy” This review article summarizes recent strategies to enhance the precise control of CRISPR/Cas9 gene editing, addressing tissue-specific challenges and off-target effects by exploring various activation methods like cell-specific promoters and small molecules.
47 citations
,
December 2019 in “Biomaterials” This study demonstrated effective delivery of CRISPR/Cas9 components to dermal papilla cells in androgenic alopecia animals using ultrasound-activated nanoparticles, resulting in specific gene editing and hair growth recovery.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.