48 citations
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May 2019 in “Genome Biology” This study identified genetic, biological, and technical factors that influence circRNA expression in the human brain, connecting these factors to potential genetic risk for diseases like schizophrenia and type II diabetes.
46 citations
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August 2020 in “International Journal of Genomics” This review examines over 271 candidate genes associated with economic traits in goats, highlighting their potential use in genetic markers and future breeding programs, and reports no new experimental results.
37 citations
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August 2020 in “BMC Genomics” This study found that while genetic variants contribute minimally to predicting hair greying in a Polish population, age remains the primary predictor, underscoring the complexity of hair greying as a genetic trait.
25 citations
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February 2017 in “Anticancer Research/Anticancer research” This review discusses the potential of ozone therapy as an adjuvant to radio-chemotherapy for cancer patients, noting enhanced treatment effects and improved quality of life, but it presents no new research findings.
22 citations
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May 1999 in “International Journal of Dermatology” This article discusses androgenetic alopecia and reports no new clinical results.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
19 citations
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June 2020 in “BMC Cancer” This study reported that genetic changes in trichilemmal carcinoma resemble those in other skin cancers, with TP53 mutations associated with aggressive clinical outcomes.
11 citations
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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.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
4 citations
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January 2021 in “International Journal of Medical Sciences” This study suggests that miR-182 may play an essential role in hallux valgus development by regulating FGF9 expression, indicating a potential therapeutic target for its treatment.
2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
1 citations
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August 2025 in “Genes” This study identified genetic variations that could serve as candidate markers for improving body conformation traits in Kazakh fat-tailed coarse-wool sheep through marker-assisted selection.
1 citations
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December 2023 in “Molecules/Molecules online/Molecules annual” This review summarized the latest knowledge suggesting that Janus kinase inhibitors may have therapeutic potential for treating skin diseases like atopic dermatitis and psoriasis, especially when conventional therapies do not work.
1 citations
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January 2020 in “Journal of Translational Genetics and Genomics” This study identified 47 genetic variants with a higher frequency in centenarians compared to young controls in the Bulgarian population, suggesting potential associations with longevity.
This review synthesizes current knowledge on choriogenesis, the final stage of oogenesis in insects, by exploring the role of follicle cells, regulatory mechanisms of gene expression, and the biochemical makeup of the eggshell, while also highlighting structural diversity and adaptations across insect species.
February 2026 in “Small Ruminant Research” This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.
January 2026 in “Preprints.org” This review explores current knowledge on fibroblast lineage specification and its impact on scar-free wound healing, noting that early fetal skin fibroblasts support regeneration, while later developmental shifts lead to fibrosis, highlighting potential strategies to reprogram adult fibroblasts for regenerative repair.
September 2024 in “Egyptian Journal of Medical Human Genetics” This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
July 2023 in “New phytologist” This research identified a genetic mutation in Brachypodium distachyon that initially allows root hair initiation but fails to elongate them, while also affecting root growth and nitrate sensitivity; the mutation is linked to a previously uncharacterized cyclin-dependent kinase-like gene.
This research identified genetic sequences that evolved at different rates in hairless versus hairy mammals, suggesting specific genetic changes contributed to the convergent evolution of hairlessness across various mammalian species.
November 2022 in “Journal of the Endocrine Society” This case study suggests that genetic susceptibility to PCOS and rare syndromes, such as Trichorhinophalangeal syndrome Type 1, should be considered in young men with unexplained hyperandrogenism.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.
November 2017 in “British Journal of Dermatology” Genes controlling hair growth and immune response are disrupted in male pattern baldness.
This study concluded that public health services in Recife-PE are inadequately informing women about the climacteric, necessitating an urgent interdisciplinary care model to improve their quality of life.
18 citations
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January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
17 citations
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July 2017 in “Molecular and Cellular Endocrinology” The authors reviewed the mechanisms behind Kennedy's disease, noting advances in therapeutic strategies such as androgen deprivation and gene silencing that may soon expand treatment options for this incurable neuromuscular condition.
11 citations
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July 2016 in “Current Opinion in Cell Biology” This review discusses stem cell behavior, highlighting their plasticity in tissue repair and the impact of somatic mutations on clonal expansion in early cancer, but reports no new experimental results.
October 2025 in “Frontiers in Molecular Biosciences” This source critically examines Bruce Ames's influential contributions to biochemistry, particularly his theories on oxidative stress and mitochondrial DNA damage in aging, while acknowledging current challenges to his work and highlighting his lasting impact on the fields of mutagen screening and public health.
January 2025 in “Clinical Dermatology Review” In this case report, a 16-year-old female with Netherton syndrome, a rare genetic disorder, exhibited symptoms such as skin issues, hair abnormalities, and elevated serum IgE levels. The diagnosis was supported by skin biopsy, and treatment included topical therapies, NB-UVB, and infliximab.