In this study, a clear pattern of selective sweep was observed for the SLC24A5 gene, with high linkage disequilibrium and low haplotype diversity, but no clear correlation with UV radiation intensity was found.
December 2016 in “Springer eBooks” This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.
6 citations
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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.
3 citations
,
September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
2 citations
,
March 2024 in “International Journal of experimental research and review” This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
February 2026 in “Frontiers in Pharmacology” This review suggests a shift toward genetically informed treatments for male pattern hair loss by integrating genetic insights and pharmacogenetic markers into therapeutic decision-making.
106 citations
,
March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
23 citations
,
June 2012 in “Molecular Biology Reports” This study found that human outer root sheath cells express VEGF receptor-2, and exogenous VEGF165 significantly stimulates their proliferation through activation of the ERK signaling pathway.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
13 citations
,
December 2018 in “Development, Growth & Differentiation” This study found that male and female chicken feather morphology and color patterns can be extrinsically modified through molting and resetting the stem cell niche during regeneration.
12 citations
,
June 2012 in “Revista da Sociedade Brasileira de Medicina Tropical” This case study reported a rare infection by Trichosporon inkin, causing white piedra in a family in Southern Brazil, emphasizing the importance of molecular tools for precise identification.
September 2021 in “International Journal of Biomedicine” This study found that SNPs in the MVK, ARPC1B, and CA2 genes may indicate a genetic predisposition for severe acne related to steroidogenesis.
This study observed that long-term laser hair removal in women may alter hair follicle structures and stem cell interactions, with dermal fibrosis potentially influencing hair regrowth prevention.
403 citations
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December 2018 in “Cell stem cell” This study suggests that phenotypic plasticity, including processes like dedifferentiation and transdifferentiation, plays a crucial role in cancer initiation, progression, and therapy resistance, broadening our understanding of cancer dynamics and potential treatment strategies.
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.
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.
124 citations
,
December 2016 in “Pharmaceuticals” This review discusses the functions and potential therapeutic targeting of TRP ion channels in the skin, noting their involvement in both physiological processes and various pathological conditions, but reports no new experimental results.
78 citations
,
October 2020 in “Experimental Dermatology” This review summarizes 15 years of clinical and experimental research advancements in hidradenitis suppurativa, highlighting its recognition as a uniquely healable inflammatory skin disease but reports no new clinical results.
69 citations
,
February 2021 in “PLoS Computational Biology” This study found that securinine and ajmaline significantly inhibited hepatocellular carcinoma cell viability and induced apoptosis, with securinine showing lower toxicity to normal liver cells.
68 citations
,
May 2016 in “Experimental dermatology” This review discusses what is known about the pathobiology of frontal fibrosing alopecia and reports no new clinical findings, highlighting potential environmental and genetic factors in disease pathogenesis.
66 citations
,
December 2013 in “Nature Cell Biology” This study found that quiescence in hair follicle stem cells acts as a tumor suppression mechanism for cutaneous squamous cell carcinoma, with Pten activity necessary to maintain this state.
58 citations
,
December 2020 in “Mayo Clinic Proceedings” This paper discusses the variability in COVID-19 susceptibility and severity, emphasizing factors like biological differences and suggesting potential precision medicine approaches, but it reports no new clinical results.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
33 citations
,
June 2016 in “Pediatric Dermatology” This review examines hair shaft disorders, reporting limited evidence for treatments like minoxidil and oral retinoids, and emphasizes gentle hair care and genetic counseling for managing congenital cases.
31 citations
,
May 2021 in “Journal of endocrinological investigation” This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.
30 citations
,
October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
29 citations
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March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
29 citations
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May 2018 in “Clinical Endocrinology” This review discusses the differential diagnosis of low-renin hypertension and highlights recent genetic discoveries related to familial forms, but it presents no new clinical results.