April 2017 in “Journal of Investigative Dermatology” This study demonstrates that genome-edited epidermal stem cells can continuously monitor blood glucose levels in vivo and potentially aid in diabetes treatment through skin somatic gene therapy.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
August 2014 in “Springer eBooks” This article proposes that the combined genetic factor of filaggrin deficiency and environmental factor of staphylococcal biofilms contribute to the development of eczema and ichthyosis vulgaris, but reports no new clinical findings.
August 2011 in “Clinical and Experimental Dermatology” In this study, 30% of a diverse female sample reported experiencing what they perceived as excessive hair shedding, often beginning abruptly and without an attributable cause.
April 2017 in “Journal of Investigative Dermatology” This study identified altered neurological pathways and potential drug targets involved in androgenetic alopecia, suggesting areas for future research and possible therapies.
724 citations
,
April 2004 in “Lancet Oncology” This review summarizes the use and neonatal outcomes of chemotherapy during pregnancy, noting its potential for safe use in the second and third trimesters, and reports no new clinical results.
532 citations
,
August 2011 in “Journal of the American Academy of Dermatology” This article discusses the clinical presentation, histopathologic findings, and pathogenesis hypotheses of vitiligo without reporting new clinical results.
196 citations
,
March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
178 citations
,
October 2001 in “Genes & Development” This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
177 citations
,
December 2002 in “The Lancet” In this study, single fibrinogen/LDL apheresis showed a significant improvement in speech perception for patients with plasma fibrinogen concentrations over 295 mg/dL compared to standard treatment for sudden sensorineural hearing loss.
157 citations
,
May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
129 citations
,
January 2007 in “Otology & Neurotology” This study found that delivering math1 via an adenovector led to vestibular hair cell regeneration and improved balance function in ototoxin-treated adult mice.
126 citations
,
January 1987 in “Journal of The American Academy of Dermatology” This article reviews the classification of hair shaft abnormalities, outlining their diagnostic features, but does not present new research findings.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
88 citations
,
February 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study reported that vitiligo patients in Turkey had a high prevalence of associated autoimmune diseases and auditory problems, suggesting vitiligo may be part of a systemic autoimmune process.
86 citations
,
August 2014 in “Journal of The American Academy of Dermatology” This article discusses the history taking and clinical examination process for diagnosing alopecia and outlines a diagnostic approach, noting that it reports no new clinical results.
81 citations
,
February 2019 in “Experimental & Molecular Medicine” This review examines PAK4 signaling pathways in prostate cancer, Parkinson's disease, and melanogenesis, focusing on the potential role of the PAK4-CREB axis, without reporting new clinical results.
81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
77 citations
,
April 2004 in “Gene expression patterns” This study observed specific expression patterns of three zebrafish estrogen receptor genes during development, highlighting robust co-expression of esr2a and esr2b in primary neuromasts, branchial arches, and other tissues.
66 citations
,
March 2019 in “Cellular and Molecular Life Sciences” This review discusses melanocyte development, emphasizing the plasticity of melanoblasts and the role of both intrinsic and extracellular signals in their differentiation and migration, with no new clinical results reported.
66 citations
,
June 2018 in “British Journal of Dermatology” These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.
66 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” This review explores the mechanisms of hair cell death due to factors like noise, ototoxic drugs, and aging and reports no conclusive clinical results; ongoing research may eventually enable preventive treatments for hearing loss.
65 citations
,
November 2016 in “Journal of The American Academy of Dermatology” This article reviews various types of primary cicatricial alopecias and emphasizes the importance of accurate diagnosis to improve management strategies, particularly detailing remaining lymphocytic forms and expanding on neutrophilic and mixed types.
63 citations
,
January 1992 in “Experimental Neurology” This study in neonatal chicks reported that intense sound exposure severely impaired auditory function, but function returned to near normal within 3 days, primarily due to non-hair-cell mechanisms.
60 citations
,
November 2020 in “International Journal of Medical Sciences” This review highlights the potential of near-infrared light therapy to improve metabolic, antioxidant, and cognitive functions without adverse effects, and supports its use for visual and neurological conditions through molecular and cellular mechanisms, as reported in this source.
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.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
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.
50 citations
,
January 2016 in “The FEBS journal” This review discusses the various roles of RANK signaling in bone remodeling, immune function, and epithelial differentiation, highlighting its potential involvement in cancer mechanisms; it reports no new clinical results.
49 citations
,
January 2003 in “American Journal of Clinical Dermatology” This review discusses various pediatric hair loss conditions and treatments, highlighting the importance of a holistic approach and noting that no single treatment is universally effective.