December 2022 in “IntechOpen eBooks” This paper discusses forensic DNA phenotyping, emphasizing its ability to infer visible traits from biological samples without reference samples, but notes ethical and legal concerns related to its use.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” This study suggests that eNOS and STAT6 gene polymorphisms may increase the risk of developing PCOS in South Indian women.
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.
253 citations
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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.
185 citations
,
August 2005 in “Autoimmunity Reviews” This review discusses alopecia areata as a model for studying tissue-directed autoimmune diseases and reports no new clinical findings.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
77 citations
,
March 2001 in “Clinics in Dermatology” This article discusses treatment approaches for female pattern hair loss and concludes that available medical treatments are effective in reversing or stabilizing the condition in most cases of mild-to-moderate severity.
74 citations
,
May 2016 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” This review identifies shared interferon gamma-driven immune pathways in vitiligo and alopecia areata, revealing potential targets for new treatments, but reports no clinical results.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
62 citations
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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.
37 citations
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January 2008 in “Gynecological Endocrinology” This study found that in women with polycystic ovary syndrome, shorter CAG repeat lengths in the androgen receptor gene were associated with lower dihydrotestosterone and androstenedione levels, but a higher prevalence of acne and hirsutism.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
12 citations
,
September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.
6 citations
,
March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
1 citations
,
July 2012 in “British Journal of Dermatology” This synopsis reviews key dermatological advancements discussed at the British Association of Dermatologists meeting in 2011 and reports no new clinical results.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” This study investigated genetic markers for alopecia areata in the Turkish population, finding that the CT60 polymorphism might be linked to increased susceptibility, while no such association was found for the +49AG polymorphism; further studies are needed to confirm these findings.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the IGF2 gene Apa1 A820G polymorphism is associated with an increased risk of developing PCOS in the studied population.
103 citations
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March 2015 in “Nature Communications” This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
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.
43 citations
,
November 2018 in “Nature Communications” This genome-wide association study identified 20 genetic signals at 15 risk loci related to severe acne, revealing new insights into its genetic predisposition, particularly affecting skin structure and maintenance.
40 citations
,
February 2005 in “Fertility and Sterility” This study suggests that although the G972R variant of the IRS1 gene might increase AA excess risk in heterozygous carriers with CYP21 mutations, both variations play a limited role in PCOS development.
39 citations
,
January 2004 in “Physiological Research” In this study, researchers reported that about one-third of men with premature alopecia displayed hormonal shifts and higher insulin resistance, resembling the prevalence pattern of PCOS in women.
30 citations
,
June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
20 citations
,
December 2000 in “Fertility and Sterility” This study found that the N363S variant of the glucocorticoid receptor was rare among women with PCOS and did not significantly contribute to genetic risk for PCOS or adrenal androgen excess.
16 citations
,
March 2011 in “Dermatologic Therapy” This study suggests that genetic variants in the androgen receptor gene may predict which postmenopausal women with hair loss respond to finasteride therapy.
12 citations
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August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.