13 citations
,
July 2018 in “General and comparative endocrinology” This study observed that direct exposure to androgens in Western clawed frogs differentially affects thyroid receptor and deiodinase gene expression in male and female tissues, offering insight into sex-specific metabolic pathway activation.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
165 citations
,
June 2007 in “European Journal of Cell Biology” This review discusses the various stem cell populations associated with hair follicles and their potential in regenerative medicine, highlighting differences between murine and human hair follicles but reports no new clinical results.
53 citations
,
August 2019 in “American journal of human genetics” This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
50 citations
,
November 2021 in “Viruses” This study observed that in vitro exposure to dihydrotestosterone worsened COVID-19 spike protein-induced endothelial injury, while spironolactone showed potential in reducing this effect, suggesting a rationale for further evaluation in treating COVID-19.
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.
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.
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.
11 citations
,
March 2013 in “Gene” This study reported that the IL1A 4-bp indel polymorphism is associated with a reduced risk of alopecia areata in Chinese populations, possibly through miR-122 mediated regulation of IL-1α expression.
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.
7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
2 citations
,
June 2000 in “Journal of The American Academy of Dermatology” In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.
9 citations
,
March 2009 in “Psychoneuroendocrinology” This study found that variations in the androgen receptor gene influenced memory function in women, with GGN repeat polymorphisms significantly affecting logical memory performance only in females.
12 citations
,
October 2004 in “Experimental Gerontology” This review summarizes how common polymorphisms in androgen and estrogen receptor genes may influence aging-related symptoms and diseases in men, but it 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.
178 citations
,
May 2006 in “Developmental Dynamics” This review discusses the role of jumonji family proteins in chromatin regulation and development, highlighting their involvement in transcriptional repression and histone demethylation, but reports no new experimental findings.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
60 citations
,
November 2009 in “General and Comparative Endocrinology” The researchers reported that during early embryogenesis and larval development in Silurana tropicalis, inhibiting steroidogenic enzymes cyp19 and srd5beta affects genes related to thyroid and reproductive systems.
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.
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.
44 citations
,
January 2008 in “Fertility and Sterility” This study suggests that androgen receptor gene CAG repeat length may influence serum free testosterone levels in some PCOS patients, with longer repeats associated with higher testosterone concentrations.
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.
37 citations
,
January 2009 in “Sexual Development” This study found that chronic exposure to fadrozole or finasteride during frog development induced intersex individuals, which displayed different gene expression profiles depending on the chemical used.
36 citations
,
August 2011 in “Journal of Controlled Release” This review explores the potential of using genetically-manipulated stem cells as both therapeutic agents and gene delivery vehicles for enhanced wound regeneration, but it reports no 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
,
November 2019 in “Gene” This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.
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.
17 citations
,
December 2001 in “Journal of Investigative Dermatology” This study found that osteopontin mRNA is abundantly expressed in dermal papilla cells during the catagen phase of hair growth in rats, suggesting a role in this phase.
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.