27 citations
,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” This article explores the endocrine functions involved in the pathogenesis of polycystic ovarian syndrome and discusses approaches for diagnosing and managing the condition, with no new clinical results reported.
19 citations
,
February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
5 citations
,
June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
101 citations
,
September 2006 in “Journal of Biological Chemistry” This research quantified the fidelity of human mitochondrial DNA polymerase and found it averages 1 error in 440,000 nucleotides, impacting its function related to disease and mitochondrial health.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
9 citations
,
October 2008 in “Mutation research” This article discusses the genomic and postgenomic changes in chronic degenerative diseases and cardiovascular and skin disease contexts, highlighting potential modulation through diet and pharmacological interventions without presenting new experimental results.
8 citations
,
July 2013 in “PLoS ONE” This study found that a new method using enzymatic laundry powder effectively extracts DNA from hair shafts, showing promise for genome-wide DNA analyses.
2 citations
,
January 2017 in “Journal of Biotechnology Research Center” This study found that hair dyes significantly affect DNA sequence analysis, with the organic extraction method performing better on hair shafts and the prepFiler kit yielding higher success for follicle-included samples.
2 citations
,
January 2008 in “International Journal of Neuroscience” This article presents a case of delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old man and reviews clinical and laboratory findings associated with the disorder, reporting no new results.
1 citations
,
July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
December 2020 in “Innovation in aging” This study suggests that inhibiting PKC, similar to rapamycin treatment, can extend lifespan and reduce neurological symptoms and inflammation in mice with mitochondrial dysfunction, potentially involving the mTORC2 pathway.
188 citations
,
June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
April 2026 in “DiRROS repository (University of Maribor)” This review discusses the therapeutic potential and challenges of using extracellular vesicles derived from mesenchymal stem cells, concluding that they may have a comparable therapeutic potential to the original cells despite current challenges in their application and production.
November 2025 in “International Journal of Research and Innovation in Applied Science” This study explores the indigenous haircare knowledge of tribal women in Nandurbar District, Maharashtra, India, documenting 25 plant species used for haircare, with an emphasis on the ecological and cultural importance of these practices for sustainable personal care innovation.
January 2020 in “Journal of Pharmacognosy and Phytochemistry” This study observed that a polyherbal hair oil made from virgin coconut oil and extracts of nine different herbs demonstrated effectiveness in promoting hair growth with a cooling effect and no reported side effects, based on various evaluated properties.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
42 citations
,
January 2015 in “Polskie Archiwum Medycyny Wewnętrznej” This study found that certain gene polymorphisms, specifically MTHFR 677CC and GGH 401TT and CT genotypes, were associated with fewer adverse effects from methotrexate in rheumatoid arthritis patients.
467 citations
,
October 2014 in “European Journal of Endocrinology” This paper reviews the diagnostic criteria, etiological factors, and treatment approaches for PCOS, highlighting the importance of considering metabolic issues such as insulin resistance and obesity, but reports no new findings.
383 citations
,
February 2011 in “Nature Reviews Genetics” This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.
340 citations
,
September 2014 in “PLOS Genetics” This study found that while genetic ancestry affects physical appearance traits in Latin American populations, it accounts for only a modest portion of the observed variation.
280 citations
,
July 2018 in “Antioxidants” This review discusses the role of reactive oxygen species in wound healing, highlighting potential strategies like mitochondrial-targeted antioxidants for managing non-healing chronic wounds, and reports no new clinical results.
129 citations
,
May 2015 in “Cell Stem Cell” This review discusses recent findings on the plasticity and regulation of epithelial stem cells and reports no new experimental results.
119 citations
,
January 2012 in “Nutrition & Metabolism” This article suggests that modern lifestyle changes, including diet, stress, and chronic anti-inflammatory medication use, may disrupt the natural process of inflammation resolution, increasing vulnerability to chronic disease.
83 citations
,
August 2014 in “PLoS ONE” This study suggests that Demodex mites might universally inhabit adult humans, with a phylogenetic analysis indicating potential undiscovered lineages of the D. brevis species based on geographic differences.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
65 citations
,
September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
62 citations
,
April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
53 citations
,
January 2009 in “Journal of Investigative Dermatology” In this study, UVB irradiation of organ-cultured human anagen hair follicles in vitro reduced hair elongation and increased cell death, affecting hair growth and regulatory processes.
48 citations
,
April 2010 in “Journal of the European Academy of Dermatology and Venereology” This article reviews gender differences in skin disorders, highlighting variations in disease prevalence and type between sexes, but reports no new findings, emphasizing potential implications for prevention and treatment strategies.