100 citations
,
June 2002 in “Diabetologia” This study found that parents of women with PCOS have a higher prevalence of insulin resistance and Type II diabetes than parents of healthy women.
95 citations
,
January 2007 in “Human biology” This study proposes a new, objective method to classify human hair into eight categories based on specific shape measurements, rather than traditional ethnicity-based classifications.
82 citations
,
March 2012 in “Development” This study found that deleting the miRNA processing enzymes Drosha and Dicer from mouse skin epithelial cells disrupted normal hair follicle development and maintenance, leading to follicular degradation and stem cell loss during the growth phase.
75 citations
,
July 2016 in “New phytologist” This study found that RSL4 in Arabidopsis thaliana regulates genes necessary for root hair elongation by controlling proteins involved in cell signaling, cell wall modification, and secretion.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
63 citations
,
January 1999 in “The Journal of Clinical Endocrinology & Metabolism” This study found evidence suggesting a potential genetic link between polycystic ovaries and premature male pattern baldness through screening of first-degree relatives of women with polycystic ovary syndrome.
62 citations
,
January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
50 citations
,
February 2013 in “BMC evolutionary biology” This study found that the Hr gene loss and positive selection for the FGF5 gene in cetaceans likely contributed to hair loss as these animals adapted to aquatic environments.
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.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.
43 citations
,
April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
43 citations
,
December 2006 in “The American journal of pathology” This study found that Edar signaling plays a role in regulating the hair cycle and apoptosis in hair follicle keratinocytes during the catagen phase in mice.
42 citations
,
January 2017 in “Genes” This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.
40 citations
,
January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.
37 citations
,
August 2019 in “Frontiers in Microbiology” This study found that the S. epidermidis A/C lineage is more pathogenic due to its metabolic and genomic versatility, which allows it to adapt quickly from a commensal to a pathogenic lifestyle.
37 citations
,
January 2019 in “JAMA Dermatology” This study found a bidirectional relationship between major depressive disorder and alopecia areata, with each condition significantly increasing the risk of subsequently developing the other.
37 citations
,
October 2015 in “European Journal of Human Genetics” This study found that a genetic model using SNPs can predict early-onset male-pattern baldness with moderate accuracy, which may assist in decisions about interventions.
37 citations
,
April 2013 in “Plastic and Reconstructive Surgery” This study found that environmental factors such as smoking, alcohol consumption, exercise, and testosterone levels may significantly influence various forms of hair loss in male identical twins.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
35 citations
,
May 1986 in “Clinics in endocrinology and metabolism” This study concludes that high skin 5α-reductase activity may contribute to hirsutism, but the specific regulatory mechanisms and genetic factors remain unclear.
35 citations
,
January 2014 in “Postepy Dermatologii I Alergologii” This study found that increased dihydrotestosterone levels were observed in both androgenetic alopecia patients and controls, suggesting that follicle sensitivity to DHT may be more critical than DHT levels for alopecia development.
31 citations
,
August 2023 in “Cell Genomics” This study produced a high-coverage genome of the Tyrolean Iceman, revealing no Steppe-related ancestry but significant Anatolian-farmer-related ancestry, and found genetic markers associated with darker skin, male-pattern baldness, type 2 diabetes, and obesity, aligning with observations of his mummified body.
31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.
30 citations
,
October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
30 citations
,
December 2001 in “Experimental dermatology” This study found that gonadal steroid hormones influence alopecia areata in C3H/HeJ mice, with estradiol promoting progression and dihydrotestosterone conferring resistance to disease onset.
29 citations
,
March 2023 in “European Journal of Human Genetics” This study identified four new genetic loci associated with acne risk and highlighted key pathways involved in its genetic predisposition, potentially explaining 9.4% of acne's phenotypic variance.
29 citations
,
December 2016 in “The EMBO Journal” This study found that the transcription factor Gata6 plays a crucial role in adult mouse hair follicle regeneration by promoting the renewal and preventing DNA damage of rapidly proliferating progenitor cells.
28 citations
,
January 2012 in “International Journal of Trichology” This study observed that specific trichoscopic features like white peripilar signs, scalp pigmentation, and focal atrichia are associated with advanced female pattern hair loss in Fitzpatrick skin type III patients.