2 citations
,
October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” This study identified novel isoforms of the PADI2 and PADI3 proteins, showing that PADI2β inhibits oligodendrocyte differentiation, possibly by opposing the effect of canonical PADI2, while PADI3β modulates the activity of PADI3α, suggesting new regulatory mechanisms of citrullination in tissue development.
45 citations
,
November 2012 This review discusses the association between androgen receptor gene polymorphism and PCOS, reporting mixed findings on whether shorter or longer CAG repeats are linked to the disorder; it provides no new results and calls for further studies.
1 citations
,
January 2017 in “Evolutionary studies” This chapter discusses genetic polymorphisms related to phenotypes that differentiate between populations and reports no new results; it highlights the role of DNA technology in understanding human adaptation history.
42 citations
,
April 2009 in “Human Genetics” This study suggests that the AGA risk haplotype in Europeans was driven to high frequency by positive selection, likely associated with a variant in the EDA2R gene.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
14 citations
,
January 1977 in “PubMed” This study found that a specific variant in hair keratin was present mainly in Caucasian samples, with few exceptions showing likely Caucasian admixture.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” This study found that IL-18 rs187238 and rs1946518 single nucleotide polymorphisms were associated with increased susceptibility to alopecia areata in a Turkish population.
1 citations
,
October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
October 2021 in “Postepy Dermatologii I Alergologii” In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.
7 citations
,
August 2013 in “Journal of the European Academy of Dermatology and Venereology” This study reported that atypical variants of alopecia areata made up less than 25% of all cases in their specialized trichology unit, suggesting a potential selection bias.
6 citations
,
March 1996 in “Journal of Investigative Dermatology” 53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
July 2022 in “Research Square (Research Square)” This study found that Egyptian women with frontal fibrosing alopecia had lower serum PPARγ levels and a higher occurrence of PPARG gene polymorphism compared to healthy controls, suggesting a potential role for PPARγ in the condition's development.
12 citations
,
July 2015 in “Tissue Antigens” In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.
6 citations
,
April 2021 in “NAR Genomics and Bioinformatics” This study found extensive co-evolution of polyglutamine repeat lengths in neural protein clusters, highlighting their potential role in neurocognitive variation and neuropsychiatric disease development.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
2 citations
,
October 2000 in “Journal of Investigative Dermatology” AUC and APL are distinct conditions needing careful clinical assessment.
March 2026 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This case series reports three novel and atypical morphological patterns of alopecia areata, termed the central sparing, paw, and punctate patterns, highlighting their importance for dermatologists in improving diagnosis and management of the condition.
7 citations
,
August 2017 in “European journal of endocrinology” This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.
29 citations
,
July 2013 in “The Journal of Sexual Medicine” This review discusses the potential role of androgen receptor CAG repeat polymorphism testing in hypogonadism management for both sexes, but its clinical utility remains unclear and requires further investigation.
93 citations
,
June 2001 in “The Journal of Clinical Endocrinology and Metabolism” This study found that serum androgen levels in premenopausal women may be influenced by genetic variants of the androgen receptor and estrogen receptor β genes.
5 citations
,
March 2025 in “Tissue Engineering and Regenerative Medicine”
10 citations
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November 2010 in “Journal of Dermatology” In this study, the researchers reported that finasteride's efficacy in treating female pattern hair loss in Japanese patients was not predictable based on CAG repeat numbers in the androgen receptor gene.
13 citations
,
April 1982 in “The Journal of Dermatology” This study found that poly(adenosine diphosphate-ribose) synthesis in human skin varies by cell type and condition, with distinct patterns in psoriatic, cancerous, and normal tissues.
2 citations
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February 2024 in “Medicine” In this study, researchers found that the rs3118470 mutation in the IL2RA gene significantly increases the risk of developing alopecia areata, and they emphasize the need for future research with larger, more diverse populations to validate these results.
March 2017 in “European Urology Supplements” This study found that variations in (CAG)n and (GGN)n polymorphisms in the androgen receptor gene appear to influence symptom severity in men with post-finasteride syndrome.
12 citations
,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
58 citations
,
June 2000 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that Atlantic croaker nuclear androgen receptors AR1 and AR2 have different binding affinities for androgens, suggesting that they may mediate distinct physiological actions in teleosts.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.