April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
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.
1398 citations
,
May 2008 in “Histochemistry and Cell Biology” This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.
1308 citations
,
March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
989 citations
,
August 2007 in “The Lancet” This article reviews the clinical features, diagnostic criteria, and possible genetic and environmental influences of polycystic ovary syndrome but provides no new research findings.
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.
438 citations
,
October 2010 in “Oncogene” This review discusses the role of keratins in epithelial cell stress protection and cancer, highlighting their potential as multifunctional regulators and diagnostic markers, without presenting new research findings.
411 citations
,
April 2010 in “Gastroenterology” This review explores various theories of colorectal cancer stem cell biology and highlights the need for better identification and targeting of these cells to advance treatment strategies, but reports no new clinical findings.
291 citations
,
January 2014 in “The Scientific World Journal” Lichen Planus is a less common condition affecting skin and mucous membranes, with various types and associated risk factors, challenging to diagnose, significantly impacts life quality, and may have a risk of cancerous changes in oral lesions.
258 citations
,
July 2016 in “Reproductive Biology and Endocrinology” This abstract reviews the characteristics and health risks associated with polycystic ovary syndrome and does not report new findings, highlighting the syndrome's multifactorial nature.
256 citations
,
October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that altering cell culture conditions to form three-dimensional papilla spheroids can restore the ability of human dermal papilla cells to induce hair growth in adult skin.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
186 citations
,
July 1998 in “Journal of Cutaneous Medicine and Surgery” This study found that shorter CAG-repeat lengths in the androgen receptor may be associated with the development of androgen-mediated skin disorders like androgenetic alopecia, acne, and hirsutism in both men and women.
181 citations
,
January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
124 citations
,
February 2018 in “Nature Reviews Genetics” This review covers recent findings on stem cell plasticity under normal and cancerous conditions but presents no new experimental results, highlighting implications for regenerative medicine and cancer treatments.
103 citations
,
March 2011 in “PLoS Biology” This study found that a mutation in the BMP12/GDF7 gene is associated with the Naked neck trait in chickens, reducing neck feathering due to altered signaling pathways.
103 citations
,
January 2011 in “Blood” This study found that thymus transplantation in infants with FOXN1 deficiency led to T-cell reconstitution and functional immunity, resolving serious infections and cytopenias.
94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
92 citations
,
December 2016 in “Scientific Reports” This study identified genomic regions and candidate genes that may contribute to phenotypic diversity in coat color, body size, cashmere traits, and high-altitude adaptation in domesticated goat breeds.
91 citations
,
December 2017 in “Systems Biology in Reproductive Medicine” This meta-analysis found that lower serum SHBG levels are associated with an increased risk of PCOS, and improving SHBG levels through treatment may reduce PCOS complications.
88 citations
,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” This article reviews recent advancements in understanding and treating androgenetic alopecia, focusing on new genetic insights, stem cell roles, and diagnostic tools, without reporting new clinical results.
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.
76 citations
,
April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.
67 citations
,
January 2020 in “Cellular & Molecular Immunology/Cellular & molecular immunology” This review discusses the dual role of tissue-resident memory T cells in providing immune protection against infections and cancer and contributing to autoimmune skin disease pathology, without presenting new experimental results.
66 citations
,
January 2001 in “Vitamins and hormones” This chapter reviews the role of androgen receptors in mediating the actions of androgens in specific tissues and provides no new experimental findings.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
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.
49 citations
,
November 2019 in “Egyptian Journal of Medical Human Genetics” This review discusses the role of CYP gene polymorphisms in exacerbating hyperandrogenism in women with PCOS and reports no clinical results; further validation of this hypothesis is needed.
47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” This study suggests that variations in PCOS phenotypes observed across different ethnic groups may be due to a genetic gradient resulting from historical human migrations and genetic drift.
46 citations
,
June 2015 in “Fertility and Sterility” This study found that, among women with polycystic ovary syndrome, insulin resistance was significantly associated with an increased risk of depression, even after accounting for factors like BMI.