92 citations
,
December 2016 in “Scientific Reports” This study identified genomic regions and candidate genes that may contribute to phenotypic diversity in coat color, body size, cashmere traits, and high-altitude adaptation in domesticated goat breeds.
58 citations
,
June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
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.
21 citations
,
June 2016 in “Genesis” This study identified a gene expression signature in mouse embryonic dermal fibroblasts that depends on Wnt/β-catenin activity, potentially influencing dermal fibroblast identity and function.
9 citations
,
June 2020 in “Animal genetics” In this study, researchers identified genetic variants in the PCCA and PRLR genes that are significantly associated with hair coat length in Brangus heifers, potentially contributing to more thermotolerant cattle.
6 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that topically applied liposomal spherical nucleic acids targeting the IL-17 receptor could effectively reduce psoriasis severity in preclinical models.
2 citations
,
January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
October 2017 in “The Indian Journal of Animal Sciences” This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.
15 citations
,
December 2013 This study found that in men with androgenic alopecia, moderate to severe cases were associated with the AA genotype of rs1160312, blood vanadium concentrations, and regular consumption of soy bean drinks.
3 citations
,
April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
This study found that combining finasteride and anastrozole was more effective in preventing and treating benign prostatic hyperplasia in rats than using either drug alone.
This study found that ARHGEF3 is crucial for hair follicle development in mice, as its absence leads to defects in placode compaction and impaired follicle downgrowth, highlighting its role in regulating cell shape rearrangements during embryogenesis.
January 2021 in “Benha Journal of Applied Sciences” This study found no significant difference in serum prolactin levels between vitiligo patients and healthy controls, nor any significant association between prolactin gene polymorphism and vitiligo severity, except for a significant relation with BMI.
1415 citations
,
October 2007 in “European Journal of Epidemiology” This article reviews the objectives and design of the Rotterdam Study and summarizes key findings across its focus on various diseases, without reporting new experimental results.
383 citations
,
February 2011 in “Nature Reviews Genetics” This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.
359 citations
,
September 2017 in “European Journal of Epidemiology” This article discusses the rationale, design, and significant findings of the long-running Rotterdam Study but reports no new clinical results.
336 citations
,
August 2015 in “European Journal of Epidemiology” This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.
266 citations
,
November 2013 in “European Journal of Epidemiology” This article outlines the rationale and design of the Rotterdam Study, summarizes its major findings, and updates its objectives and methods; it reports no new research results.
247 citations
,
August 2011 in “European Journal of Epidemiology” This article outlines the rationale, design, major findings, and updated objectives of the ongoing Rotterdam Study, without presenting new research data.
219 citations
,
September 2009 in “European journal of epidemiology” This article discusses the rationale, design, major findings, and updated objectives and methods of the ongoing Rotterdam Study on various diseases, without reporting new research results.
74 citations
,
January 2013 in “Journal of Investigative Dermatology” Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
40 citations
,
June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
36 citations
,
March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
12 citations
,
February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
10 citations
,
March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
10 citations
,
November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
9 citations
,
August 2024 in “Tissue Engineering and Regenerative Medicine” In this study, researchers suggest that strategic early intervention during fetal wound healing could lead to significantly improved long-term skin regeneration outcomes.
8 citations
,
September 2024 in “BMC Genomics” In this study, researchers found that the novel gene circCFAP20DC enhances the proliferation of goat follicular granulosa cells by activating the RB pathway, facilitating their progression from the G1 to S phase during follicular development.
3 citations
,
May 2023 in “Frontiers in immunology” This study reviewed the role of inflammasomes in autoimmune skin diseases, highlighting their contribution to the pathogenesis of conditions such as vitiligo, alopecia areata, and psoriasis, and suggesting that targeting inflammasome dysregulation may offer new therapeutic options.