253 citations
,
March 2006 in “The Journal of Clinical Endocrinology and Metabolism” This review discusses the hypothesis that polycystic ovary syndrome may originate in fetal life due to prenatal androgen exposure, but reports no new clinical results.
195 citations
,
June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
194 citations
,
November 2006 in “Science” This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.
191 citations
,
December 2003 in “Journal of Investigative Dermatology” Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
169 citations
,
June 1998 in “Journal of Investigative Dermatology” This study found no significant genetic association between the 5α-reductase enzyme genes and male pattern baldness, suggesting a polygenic etiology rather than simple inheritance.
152 citations
,
January 2004 in “Current anthropology” Humans lost body hair relatively recently in evolution.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
133 citations
,
February 2017 in “PLoS Genetics” In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
133 citations
,
January 2009 in “Nature” This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.
111 citations
,
January 2007 in “Seminars in cell & developmental biology” This article reviews the similarities in early development processes of hair follicles, teeth, and mammary glands and reports no new experimental findings.
97 citations
,
March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
74 citations
,
January 2013 in “Journal of Investigative Dermatology” Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
74 citations
,
July 2008 in “Journal of Dermatological Case Reports” This study found that trichoscopy can diagnose genetic hair shaft abnormalities without plucking or cutting hair, by visualizing characteristic features in a single session.
67 citations
,
December 2008 in “Developmental Biology” This study found that the transcription factors Msx2 and Foxn1 are crucial for maintaining Notch1 expression in the hair follicle matrix, which is necessary for proper hair differentiation.
58 citations
,
December 2018 in “Nature Communications” This study found that male pattern baldness in European males is strongly heritable and associated with genetic markers linked to earlier puberty, bone density, and pancreatic function.
53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
50 citations
,
May 2018 in “International journal of cardiology” This study found associations between genetic predictors of increased testosterone and cardiovascular risk factors, but the implications for testosterone supplementation are unclear due to uncertainties in genetic variant functions.
49 citations
,
October 2022 in “PubMed” This review examines alopecia, its causes, the impact of micronutrients, and the role of the Mediterranean diet, noting conflicting data and a need for more research on diet's effect on hair loss.
44 citations
,
January 1999 in “Advances in pharmacology” This chapter reviews recent findings on androgen receptor function, structure, and interactions, highlighting post-translational modifications and mutations related to prostate cancer, but reports no new experimental results.
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.
40 citations
,
October 2012 in “Dermatologic clinics” This review highlights the need for a deeper understanding of the genetic mechanisms in alopecia areata to develop evidence-based treatments, but it provides no new experimental results.
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.
38 citations
,
February 2012 in “British Journal of Dermatology” This study suggests that the AR/EDA2R locus may contribute to early-onset female pattern hair loss, but no association was found with the 20p11 locus.
37 citations
,
January 2010 in “Human Molecular Genetics” In this study using mice with specific gene knockouts, both farnesyltransferase and geranylgeranyltransferase-I were found to be essential for the proliferation and survival of skin keratinocytes.
37 citations
,
January 2005 in “Clinics in dermatology” This review discusses recent advances in understanding the genetics of hair and nail disorders and reports no new clinical results.
35 citations
,
June 2011 in “British Journal of Dermatology” This study found that in an Italian population, the HLA-DQB1*03 allele was associated with increased susceptibility to alopecia areata, particularly in cases with more than 50% hair loss.
32 citations
,
August 1999 in “Journal of Investigative Dermatology” This study found that individuals with early onset extensive androgenetic alopecia have an elevated ratio of DHT to testosterone, but no significant genetic linkage to markers on chromosomes 2 or 5 was detected.
29 citations
,
November 2022 in “Nature Medicine” This study identified thousands of variant-metabolite associations in the human plasma metabolome, offering insights into the genetic bases of metabolism and potential adverse drug effects.
29 citations
,
February 2018 in “Genetics research international” This review summarizes the influence of gene polymorphisms on genetic predisposition to polycystic ovary syndrome, but reports no new experimental or clinical results.
29 citations
,
January 2010 in “Methods in Enzymology” This review discusses five genetic fate mapping methods used to study cell behaviors during development and regeneration, detailing the necessary tools and considerations without reporting new experimental results.