26 citations
,
February 2020 in “Frontiers in genetics” This study identified three candidate genes (CORT, FGF5, and CD36) associated with cold climate adaptation in Yanbian cattle through genome resequencing and comparison with African tropical cattle.
25 citations
,
January 2019 in “Annals of Dermatology” This study observed that the NOTCH signaling pathway may contribute to the development of fibrosis in systemic sclerosis by affecting epithelial cell changes, and inhibiting this pathway could prevent fibrosis in experimental models.
24 citations
,
January 2021 in “Physiological Research” This review addresses the effects of testosterone on brain development and examines both the established sex differences in brain functions and the debate surrounding structural dimorphism in neuropsychiatric conditions.
23 citations
,
August 2017 in “Scientific Reports” Darker hair may lead to higher cortisol readings, suggesting a need to adjust for hair color in studies.
23 citations
,
January 2015 in “Journal of The American Academy of Dermatology” This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.
21 citations
,
November 2017 in “Livestock science” This study confirms the presence of large structural variations in the genome of Nellore cattle, which may contribute to their environmental adaptation to tropical regions.
21 citations
,
February 2016 in “Reproductive Biomedicine Online” This review examines how genetic variants associated with polycystic ovary syndrome affect reproductive success differently in men and women, supporting the theory that intralocus sexual conflict may explain its persistence.
20 citations
,
May 2020 in “Experimental Dermatology” This review discusses age-related changes in scalp skin and their potential effects on hair follicle aging, but reports no new clinical results, calling for further investigation.
20 citations
,
June 2019 in “Experimental Dermatology” This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.
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.
18 citations
,
October 2023 in “Nature Communications” In this study, male-pattern baldness was strongly associated with a higher risk of keratinocyte cancers, particularly squamous cell carcinoma and melanoma, likely due to increased sun exposure on the scalp rather than androgen levels.
18 citations
,
April 2016 in “Endocrinology and Metabolism Clinics of North America” This review discusses the diagnostic challenges of PCOS in adolescents, noting that the persistence of hyperandrogenism and oligomenorrhea is required for diagnosis, while genetic studies suggest involvement of the hypothalamic-pituitary-ovarian axis.
16 citations
,
January 2023 in “Cureus” This article discusses the characteristics and potential consequences of polycystic ovarian syndrome, including its effects on fertility and risk for other health conditions, but it reports no new findings.
16 citations
,
December 2001 in “Dermatologic Therapy” This review summarizes current genetic knowledge of alopecia areata and provides a theoretical framework for future genetic mapping studies, but reports no new results.
15 citations
,
June 2020 in “Experimental Dermatology” This review discusses recent genetic findings on hormonal signaling pathways in androgenetic alopecia, reporting no new study results but highlighting the need for further investigation.
15 citations
,
October 2011 in “Gynecological Endocrinology” This study found that obesity in PCOS women with biochemical hyperandrogenemia lowers androstenedione levels and increases the testosterone to androstenedione ratio, but this was not observed in women with clinical hyperandrogenemia or in controls.
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
10 citations
,
February 2007 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses the early developmental origin of premature adrenarche and polycystic ovary syndrome and highlights potential utero-based mechanisms, reporting no new clinical findings.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.
8 citations
,
June 2012 in “PloS one” This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.
8 citations
,
August 2009 in “Pediatric transplantation” This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.
7 citations
,
October 2017 in “The Prostate” This study found that male pattern baldness may serve as a clinical marker for circulating sex hormone levels in men with localized prostate cancer, while chest hair density showed no significant hormone association.
6 citations
,
January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
5 citations
,
January 2015 in “Genetics and Molecular Research” This study found that gene-regulatory interactions among parental alleles contribute significantly to heterosis in early stages of maize development, with many differentially expressed genes showing non-additive expression in hybrids.
3 citations
,
April 2025 in “Nature Communications” This study concluded that the GIANT brain atlas, which integrates genetic and neuroanatomical variations, provides a more accurate representation of brain structure than traditional neuroanatomical atlases, allowing for better exploration of genetic influences on the brain.
2 citations
,
January 2026 in “Frontiers in Endocrinology” This review discusses the impaired functionality of regulatory T cells in the pancreas during the development of Type 1 diabetes, highlighting their role in disease pathogenesis, potential of Treg-based therapies, and challenges in clinical applications.
2 citations
,
September 2022 in “Frontiers in genetics” This study found that cashmere has a significantly smaller mean fiber diameter compared to sheep and goat wool, and identified key proteins that may influence this difference.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
2 citations
,
June 2000 in “Journal of The American Academy of Dermatology” In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.