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.
December 2016 in “Springer eBooks” This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.
24 citations
,
June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.
January 2017 in “Clinical & medical biochemistry” This study observed that Greek Caucasian women with PCOS had distinct serum hormone levels and a specific AKT2 gene SNP, which may play a role in the condition's characteristics.
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.
2 citations
,
March 2022 in “Research Square (Research Square)” In this study, the expression of certain hair follicle-related genes differed between growth phases in Angora goats, with HOXC13 showing overexpression during the anagen phase, potentially influencing the mohair's shine and texture.
March 2024 in “Research Square (Research Square)” In this study, researchers discovered that the MafB gene, which is important for macrophage differentiation, shows high expression in the pancreas and is influenced by sex steroids, with varied expression patterns in hamster tissues and during reproductive phases.
November 2022 in “Research Square (Research Square)” This study found that HOXC13 gene expression was significantly higher during the anagen phase in Angora goats, potentially contributing to the mohair's shiny and silky nature.
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.
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.
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.
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.
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.
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.
51 citations
,
January 2003 in “Hormone Research in Paediatrics” This review discusses hormonal influences on hair growth and suggests that understanding hormone-gene interactions may improve treatment of hirsutism and alopecia, but reports no new clinical findings.
48 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews the genetic and protein interactions involved in hair growth, highlighting regulatory sequences, expression patterns, and potential genetic modifications, but presents no new experimental findings.
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.
39 citations
,
December 2001 in “JNCI: Journal of the National Cancer Institute” This study found that enhanced expression of the Sonic hedgehog gene via an adenovirus vector accelerated hair regrowth in mice with chemotherapy-induced alopecia.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
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.
21 citations
,
January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
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.
18 citations
,
July 2010 in “Expert Review of Endocrinology & Metabolism” This study identified an association between the FTO gene and susceptibility to PCOS, providing the first genetic evidence linking PCOS to obesity.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
15 citations
,
December 2017 in “Journal of Investigative Dermatology” This study identified two genome-wide significant genetic associations with seborrheic dermatitis, suggesting a potential genetic susceptibility contributing to the disease's pathogenesis.
13 citations
,
December 2020 in “PLoS ONE” This study found dependencies between genetic variants and various phenotypes related to fetal and early childhood growth and neurological development in healthy infants, suggesting significant gene candidates for further investigation.
10 citations
,
March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.