20 citations
,
April 2014 in “Autoimmunity” In this study, TLR1 gene polymorphism rs4833095 was significantly associated with increased susceptibility to alopecia areata in the Korean population.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
51 citations
,
September 2012 in “Gene” In this study, researchers identified a putative ovine KAP24-1 gene in sheep, revealing four unique DNA sequences with some similarity to KRTAP24-1 sequences from other species.
18 citations
,
September 2018 in “The Journal of Agricultural Science” In this study, the presence of certain KAP15-1 gene variants in sheep was associated with differences in wool yield and fiber characteristics.
6 citations
,
March 2024 in “Journal of Clinical Laboratory Analysis” This study reported that IGF2BP2 rs1470579 and IGFBP3 rs2854744 may increase the risk of polycystic ovary syndrome in a Southeastern Iranian population.
186 citations
,
July 1998 in “Journal of Cutaneous Medicine and Surgery” This study found that shorter CAG-repeat lengths in the androgen receptor may be associated with the development of androgen-mediated skin disorders like androgenetic alopecia, acne, and hirsutism in both men and women.
In this study, the authors reported that certain SNPs on chromosome 20 were associated with androgenetic alopecia in the ethnic Han population of Yunnan, with specific alleles linked to higher likelihood of developing the condition.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
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.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that AP-2α and AP-2β transcription factors are crucial for maintaining adult skin homeostasis, with their inactivation in keratinocytes leading to impaired differentiation, hair abnormalities, and inflammation, highlighting their key regulatory roles.
March 2024 in “Dermatology and therapy (Internet)” This study identified eight genetic markers associated with androgenetic alopecia, suggesting that these SNPs could influence individualized therapeutic responses and highlight the need for personalized treatment strategies.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
77 citations
,
April 2009 in “British Journal of Dermatology” In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.
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.
In this study, the researchers found no significant link between CAG repeat numbers in the androgen receptor gene and female pattern hair loss in a Chinese population.
April 2017 in “Journal of Investigative Dermatology” This study found that the PON1 192 R allele was associated with an increased risk of psoriasis and altered lipid profiles in patients from Western Mexico.
December 2023 in “Research Square (Research Square)” This study found that IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms do not have a significant association with alopecia areata susceptibility in the Egyptian population.
2 citations
,
April 2025 in “Frontiers in Genetics” This study investigated the genetic basis of coat color variation in cattle using skin transcriptome and whole-genome analyses, identifying the ASIP gene as a significant determinant that is differentially expressed and under strong positive selection in black and brown cattle breeds.
4 citations
,
March 2024 in “Forensic Sciences Research” This review found that current forensic DNA phenotyping panels for biogeographical ancestry and visible traits face significant limitations due to inconsistencies in terminology, genetic understanding, and genotyping technologies, highlighting the need for harmonization and further research.
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.
9 citations
,
September 2013 in “Journal of Applied Animal Research” This study identified eight alleles of the caprine KAP13-3 gene in cashmere goats, which could influence gene expression and cashmere fiber characteristics.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
76 citations
,
February 1993 in “Journal of Biological Chemistry” This research observed that sheep and rabbit KAP6 genes, expressed in hair follicle cells, have high sequence similarity and indicate conservation due to evolutionary selection pressures.
11 citations
,
April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
9 citations
,
December 2018 in “Journal of Natural Fibers” This study found that K33A was significantly upregulated in lustrous Magra wool follicles, while other keratin and KAP genes showed downregulation, impacting wool's physical properties like luster.
20 citations
,
July 2013 in “European Journal of Oral Sciences” This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.
This study analyzed the genetic variations of the KAP20-1 gene in Chinese Tan sheep lambs and found that the G variant was linked to an increased mean fibre curvature in their fine wool fibres, potentially influencing breeding strategies for this wool trait.
6 citations
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December 2022 in “Journal of Infection” In this study, the ACE1 rs1799752 polymorphism was not found to predispose COVID-19 survivors to long-COVID symptoms, supporting previous findings that ACE2 and TMPRSS2 variants also do not influence post-COVID conditions.