March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
101 citations
,
September 2006 in “Journal of Biological Chemistry” This research quantified the fidelity of human mitochondrial DNA polymerase and found it averages 1 error in 440,000 nucleotides, impacting its function related to disease and mitochondrial health.
September 2001 in “PubMed” This study developed a non-destructive X-ray fluorescence technique to quantitatively analyze elemental content in human hair and constructed a database of element concentrations in healthy Swedish, Caucasian individuals.
March 2024 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that faster algorithms for inferring ancestry in genomic data can better capture historical and functional insights into genome variation than traditional methods in large datasets like the UK Biobank.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
September 2017 in “Journal of Investigative Dermatology” QMSI effectively maps and quantifies drug distribution in skin tissues.
January 2026 in “Methods in molecular biology” This paper discusses methods for distinguishing viable microbial communities in hair follicle dysbiosis studies and reports no new clinical results, suggesting potential improvements in sample analysis.
August 2011 in “BIO-PROTOCOL” This protocol paper details methods for live imaging and analysis of dividing germline stem cells in C. elegans and reports no new research findings.
14 citations
,
July 2021 in “Bioinformatics” This study demonstrates the use of rPanglaoDB, an R package for combining public single-cell datasets, to create the first unbiased transcriptome profile of fibrocytes, revealing their role in tissue healing.
13 citations
,
June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
1 citations
,
February 2016 in “Cell Transplantation” In this study, researchers found that hair follicles and dermal fibroblasts, including dermal papilla cells, supported sustained hair growth in transplanted murine models, with RNA-seq analysis revealing active signaling pathways and gene expression patterns.
5 citations
,
March 2019 in “Quantitative Imaging in Medicine and Surgery” This review discusses recent advances in imaging techniques for monitoring stem cells in vivo and reports no new results; it suggests directions for future development in endoscopic molecular imaging tools.
2 citations
,
November 2024 in “PeerJ” This study identified a wide range of differentially expressed lncRNAs and mRNAs in the hair follicles of Hetian sheep, which may be useful for further research on improving carpet wool quality.
November 2023 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, Almet et al. (2023) compiled integrated single-cell RNA sequencing data from multiple mouse datasets to investigate how fibroblasts evolve during wound healing by examining changes in the extracellular matrix and signaling pathways.
1 citations
,
January 2026 in “GigaScience” This study introduces Cell Journey, a new platform for visualizing RNA velocity in 3D, which aims to better capture complex cellular transitions in single-cell datasets compared to current 2D methods.
January 2026 in “International Journal of Molecular Sciences” This study found that eyebrow follicles, as opposed to buccal swabs or nails, are the most reliable tissue for post-HSCT germline genetic testing due to lower donor DNA contamination.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
1415 citations
,
October 2007 in “European Journal of Epidemiology” This article reviews the objectives and design of the Rotterdam Study and summarizes key findings across its focus on various diseases, without reporting new experimental results.
396 citations
,
May 2011 in “Cell stem cell” This study found that Shh from neurons signals to Gli1-expressing cells in the hair follicle, cultivating a niche where these bulge cells can potentially transform into epidermal stem cells in wound healing.
383 citations
,
February 2011 in “Nature Reviews Genetics” This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.
340 citations
,
September 2014 in “PLOS Genetics” This study found that while genetic ancestry affects physical appearance traits in Latin American populations, it accounts for only a modest portion of the observed variation.
301 citations
,
February 2019 in “Nature Communications” In this study, researchers found that wound healing in mouse skin recruits diverse fibroblasts, including myeloid-derived cells, which contribute to regenerating adipocytes.
260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
247 citations
,
August 2011 in “European Journal of Epidemiology” This article outlines the rationale, design, major findings, and updated objectives of the ongoing Rotterdam Study, without presenting new research data.
237 citations
,
February 2016 in “Science Translational Medicine” This study found that many effects previously thought to be caused by circadian rhythm disruption in Bmal1 knockout mice are actually due to BMAL1's properties unrelated to its clock function.
232 citations
,
January 2016 in “BMC Bioinformatics” This study found that using curated biomedical databases as training examples for information extraction tasks in Genome-Wide Association Studies can outperform cost-insensitive methods, demonstrating their potential use without expert annotation.
219 citations
,
September 2009 in “European journal of epidemiology” This article discusses the rationale, design, major findings, and updated objectives and methods of the ongoing Rotterdam Study on various diseases, without reporting new research results.
192 citations
,
March 2017 in “Cell host & microbe” The researchers reported that hair follicle development and commensal microbe colonization promote the accumulation of regulatory T cells in neonatal skin, with the Ccl20-Ccr6 pathway playing a key role in this process.
174 citations
,
November 2016 in “Cell stem cell” This study found that squamous cell carcinomas from hair follicle stem cells are more prone to epithelial to mesenchymal transition and metastasis than those from interfollicular epidermis, due to distinct chromatin landscapes.
173 citations
,
January 2014 in “Nature Cell Biology” This study found that Wnt signalling activates hair follicle fate in hair follicle stem cells by relieving TCF3/4–TLE-mediated repression, with β-catenin being crucial for this process.