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.
January 2026 in “Preprints.org” In this study, researchers identified four novel variants in the FGF5 gene associated with the long-haired phenotype in dogs, suggesting additional unexplored genetic factors contribute to this trait beyond the known Lh1-Lh5 alleles.
5 citations
,
March 2024 in “Frontiers in Bioengineering and Biotechnology” In this study, researchers successfully constructed a high-precision three-dimensional model of human skin dermis, revealing a detailed analysis of dermal porosity and pore diameter distribution, which can aid the development of biomimetic tissue-engineered skin.
4 citations
,
December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
1 citations
,
September 2017 This study found that the combination of Stemoxydine® and Resveratrol improved hair density in women with Female Pattern Hair Loss.
20 citations
,
July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
788 citations
,
February 2007 in “Nature” This review explores how adult skin epithelia preserve stem cell populations for hair follicle regeneration and wound healing, but reports no new experimental results.
417 citations
,
September 2005 in “PLoS biology” This study developed molecular signatures for dermal papilla cells and their niche, uncovering novel signaling regulators and genes linked to hair disorders, which may inform future hair development research.
308 citations
,
December 2018 in “PLOS Genetics” This study identified three novel genetic loci associated with PCOS and found similar genetic architecture across different diagnostic criteria, with evidence suggesting genetic links between PCOS and various metabolic and psychological traits.
156 citations
,
December 2012 in “Cell Stem Cell” This review explores the role of TGF-β superfamily pathways in stem cell environments and their implications for tissue regeneration and cancer development, reporting no new experimental results.
115 citations
,
March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
95 citations
,
February 2019 in “The New England Journal of Medicine” This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.
94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
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.
55 citations
,
November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
55 citations
,
October 1992 in “Archives of Dermatology” In this study, researchers observed that loose anagen hair syndrome is an autosomal dominant disorder characterized by abnormal hair follicle structure and premature keratinization, possibly due to signaling and desmosomal component disturbances.
38 citations
,
January 2001 in “Neuroepidemiology” This paper discusses the limitations of clinical trials in evaluating combination treatment regimens for Alzheimer's disease and ischemic stroke, highlighting the extensive resources required for such trials.
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.
25 citations
,
October 1996 in “Dermatologic Clinics” This article discusses loose anagen syndrome, highlighting its characteristics, diagnostic methods, and spontaneous improvement over time, but provides no new clinical results.
23 citations
,
February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
23 citations
,
June 2017 in “Drug Design Development and Therapy” This study found that the dimethyl-β-cyclodextrin inclusion system significantly improved the solubility and bioavailability of finasteride compared to the drug alone, enhancing its absorption rate.
20 citations
,
November 2019 in “Current Opinion in Systems Biology” This review discusses how recent studies use models and experiments to understand immune system signaling, but it reports no new clinical findings; the authors suggest strategies for improving these models.
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.
20 citations
,
January 2017 in “Scientific reports” This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
19 citations
,
October 2024 in “BMC Medical Informatics and Decision Making” This study used machine learning models to analyze PCOS symptoms for early diagnosis, finding Support Vector Machine and VGG16 algorithms achieved high accuracy rates of 94.44% and 98.29% respectively.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
17 citations
,
June 2019 in “BMC genomics” This study cataloged several long non-coding RNAs and microRNAs in cashmere goat dermal papilla cells, suggesting these non-coding RNAs may play a role in hair follicle stem cell activation and hair growth.
15 citations
,
December 2021 in “Nature Communications” In studying wild meerkats, researchers observed that matriarchs with high androgen levels during late gestation exhibited increased dominance and aggression, affecting both their behavior and their offspring's aggression.