83 citations
,
July 2008 in “Current Opinion in Chemical Biology” This review discusses the structural and functional advances in understanding sulfotransferases and sulfatases, highlighting new insights into enzyme mechanisms and inactivation by clinically relevant aryl sulfamates, but provides no new experimental 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.
73 citations
,
June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
69 citations
,
June 2017 in “Experimental Biology and Medicine” This review discusses the advancements and challenges in developing in vitro human skin models incorporating components like vasculature for drug testing and disease research, but reports no new clinical results.
69 citations
,
August 1999 in “Developmental biology” This study found that ectopic expression of Whn in transgenic mice caused impaired differentiation in epidermis and hair follicles, with hair growth defects and severe urinary tract issues leading to hydronephrosis.
65 citations
,
July 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that overexpression of Hoxc13 in GC13 mouse models affects hair follicle differentiation by interacting with medulla-specific genes, particularly Foxq1, suggesting a regulatory pathway for medulla differentiation.
53 citations
,
January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, reduced androgen receptor gene methylation and shorter CAG repeats in children with premature pubarche may lead to increased hair follicle sensitivity to steroid hormones, potentially causing early pubic hair development.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.
48 citations
,
January 2003 in “Fertility and Sterility” In this study, researchers found no significant association between the D19S884 marker near the insulin receptor gene and polycystic ovary syndrome in women from Spain and Italy.
47 citations
,
July 2004 in “Journal of Dermatological Science” In this study, decreased expression of BMP2 and ephrin A3 and increased NT-4 gene expression were observed in dermal papilla cells from androgenic alopecia-affected skin, suggesting potential roles in hair growth regulation.
45 citations
,
November 2012 This review discusses the association between androgen receptor gene polymorphism and PCOS, reporting mixed findings on whether shorter or longer CAG repeats are linked to the disorder; it provides no new results and calls for further studies.
39 citations
,
May 2011 in “Human Immunology” This review discusses findings from genetic studies on acne, highlighting progress in understanding its molecular pathogenesis without reporting new clinical results.
31 citations
,
March 2013 in “Gene” This study sequenced and analyzed the goat skin transcriptome, revealing genes involved in signal transduction and cell communication that are differentially expressed during hair growth phases, providing insights for Cashmere goat breeding.
28 citations
,
August 2003 in “Steroids” This study found that untreated hirsute patients have lower expression of type 2 17β-HSD mRNA in scalp hairs, indicating potential disturbances in androgen metabolism, compared to treated hirsute patients.
27 citations
,
November 2021 in “Scientific Reports” This study used bioinformatics to explore molecular differences in testicular and ovarian responses to SARS-CoV-2, identifying genes that could be associated with sex differences in infection outcomes.
24 citations
,
January 2016 in “Lasers in Medical Science” This study found that non-ablative fractional erbium glass laser treatment affected gene regulation in human skin models by downregulating MMP and interleukin expression, suggesting potential roles in dermal remodeling and anti-inflammatory effects.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
22 citations
,
August 2013 in “PLOS ONE” This study found that using a non-invasive multielectrode array for gene electrotransfer in hairless guinea pigs increased gene expression in the epidermis significantly, with minimal skin changes observed.
22 citations
,
August 2006 in “Critical Reviews in Plant Sciences” The tropical legume Sesbania rostrata can form nodules in waterlogged conditions using a different method that involves plant hormones and specific genes.
19 citations
,
August 2012 in “Cell death and differentiation” This study found that disrupting the inturned gene in developing mouse epidermis halted hair follicle formation due to impaired keratinocyte differentiation, highlighting primary cilia's role in tissue-specific planar cell polarity signaling.
18 citations
,
February 2023 in “PLoS ONE” This study developed a triple drug delivery system using nanoparticles loaded with 5-fluorouracil, curcumin, and piperine to target breast tumors, demonstrating notable in vitro cytotoxicity and anti-metastatic potential in 3D tumor spheroids which suggests its promise for further preclinical evaluation.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
17 citations
,
July 2017 in “Molecular and Cellular Endocrinology” The authors reviewed the mechanisms behind Kennedy's disease, noting advances in therapeutic strategies such as androgen deprivation and gene silencing that may soon expand treatment options for this incurable neuromuscular condition.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
16 citations
,
May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
16 citations
,
April 1978 in “Genetics Research” This study found that asebic mice exhibit abnormal sebaceous gland differentiation and insufficient sebum production due to defective regulation of cell processes, despite possessing normally developing sebaceous glands initially.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
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.
13 citations
,
November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
12 citations
,
August 1984 in “Genetics Research” In this study, researchers found that the naked (N) gene in mice indirectly affects the synthesis of structural proteins in mouse hair, resulting in reduced high tyrosine protein content and unusual amino acid compositions.