March 2021 in “Cell stem cell” This study found that actomyosin contractility in suprabasal keratinocytes influences the proliferation and differentiation of epidermal stem/progenitor cells by acting as a niche element in the skin.
5 citations
,
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.
97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
8 citations
,
January 2014 in “PubMed” This study demonstrated that dermal papilla cells were more efficiently reprogrammed into induced pluripotent stem cells than dermal fibroblasts, suggesting their potential as a source for iPS cells.
October 2024 in “Frontiers in Pharmacology” This study found that in patients with genetic generalized epilepsies, certain gene variants were linked to differences in valproic acid treatment outcomes, including a higher likelihood of treatment failure, varying serum drug concentrations, and specific side effects like weight gain and hair loss.
29 citations
,
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.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
In this study, researchers identified specific gene polymorphisms in Subo Merino sheep that significantly affect wool traits, suggesting these genetic markers could aid in breeding high-quality fine-wool sheep.
3 citations
,
February 2025 in “Metabolites” In this study, researchers identified specific Se6OMT enzymes in *S. epigaea* involved in the cepharanthine biosynthetic pathway, providing insights into their substrate promiscuity and essential genetic components for metabolic engineering and synthetic biology applications of cepharanthine production.
1 citations
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November 2022 in “Frontiers in medicine” This study found differences in melanin content and gene expression in skin under black and white hair of giant pandas, providing a basis for further research on hair color distribution and skin diseases.
May 2024 in “JAMA Dermatology” In this study, researchers identified genetic factors associated with frontal fibrosing alopecia, noting a protective effect of a specific CYP1B1 gene variant, which may offer insights into the disease's pathogenesis and future risk mitigation strategies.
In this study, significant associations were observed between specific genetic polymorphisms in BDNF and CRH-R1 and the occurrence of vitiligo, along with differing serum levels of neurotransmitters between vitiligo patients and healthy controls.
This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
4 citations
,
January 2012 in “Elsevier eBooks” The document concludes that various skin conditions have specific treatments, ranging from antihistamines for urticaria to surgery and medication for tumors and chronic skin diseases.
August 2022 in “IntechOpen eBooks” This article reviews congenital adrenal hyperplasia, a group of rare genetic disorders affecting steroid synthesis, and highlights the need for specific therapy and ongoing monitoring, but reports no new clinical findings.
8 citations
,
July 2024 in “PLoS ONE” In a comparative genomic study, researchers observed significant genetic differences among the three chemical races of the alga Botryococcus braunii, leading them to propose reclassifying these races as distinct species based on their unique genomic characteristics.
April 2024 in “The Journal of experimental medicine/The journal of experimental medicine” This review discusses how regulatory T cells, known for their immunosuppressive role, also produce repair mediators critical for tissue repair and regeneration, acting on non-immune cells in tissue-specific contexts, and highlights areas for future research in tissue repair, fibrosis, and cancer.
92 citations
,
January 2012 in “International Journal of Biological Sciences” This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.
74 citations
,
March 2001 in “Seminars in Cutaneous Medicine and Surgery” This review summarizes the cutaneous manifestations of lupus erythematosus, noting both non-specific and disease-specific lesions, and highlights the role of skin biopsies and treatments available for cutaneous LE.
7 citations
,
November 2013 in “Pediatric and Developmental Pathology” This retrospective review of hair samples from pediatric patients indicated that microscopic hair examination might be a useful first-line investigation for diagnosing various genetic conditions.
51 citations
,
June 2021 in “Signal Transduction and Targeted Therapy” This review article summarizes recent strategies to enhance the precise control of CRISPR/Cas9 gene editing, addressing tissue-specific challenges and off-target effects by exploring various activation methods like cell-specific promoters and small molecules.
33 citations
,
January 2011 in “Elsevier eBooks” This article reviews the complexity and diverse manifestations of systemic lupus erythematosus, highlighting potential genetic, hormonal, and environmental factors in its pathogenesis without presenting new clinical findings.
September 2017 in “Journal of Investigative Dermatology” This study found that the expression levels of Siah1 and Siah2 in mice skin vary dynamically during postnatal hair follicle development, suggesting their specific roles in modulating the HIF pathway.
125 citations
,
August 2020 in “Frontiers in Immunology” This review discusses sex-based differences in immune responses, focusing on genetic, hormonal, and microbiome factors influencing infections like COVID-19, and reports no clinical results.
27 citations
,
January 2010 in “Animal” In these studies, researchers found that Peruvian camelids reach mature skin follicle development early, with specific cuticular characteristics useful for distinguishing fleece types, while Bolivian llamas have a mature follicle apparatus present at birth.
August 2023 in “Physician's journal of medicine” This review provides a detailed overview of Hashimoto thyroiditis, discussing its epidemiology, risk factors, genetic and environmental contributors, clinical presentations, diagnostic methods, and treatment options, emphasizing the importance of personalized treatment plans due to varied causes and symptoms.
4 citations
,
June 2025 in “Frontiers in Immunology” This review discusses the role of the BAFF system in autoimmune diseases and highlights its therapeutic potential, emphasizing the need for disease-specific clinical trials to improve treatment strategies.
4 citations
,
May 2020 in “PLOS ONE” This study found that ingenol mebutate treatment led to gene expression changes in actinic keratoses, with complete lesion clearance in 40% of patients and identified genetic markers potentially predicting treatment response.
October 2025 in “HAL (Le Centre pour la Communication Scientifique Directe)” This research observed that, in domestic cats like Maine Coon and Rex breeds, a "piebald" coat color pattern is likely influenced by the Silver locus, although the specific mutations involved are yet to be published.