22 citations
,
January 2014 in “Indian Journal of Endocrinology and Metabolism” This study found that metabolic syndrome or related metabolic issues are common among the family members of women with polycystic ovary syndrome.
30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
53 citations
,
May 1988 in “Journal of Molecular Evolution”
1 citations
,
March 2019 in “Chinese Medical Journal” This study identified a small population of PAX3+/CD34+ cells in human foreskin tissue that may serve as transition cells between melanocyte stem cells and hair follicle stem cells, characterized by specific marker expressions.
20 citations
,
July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
April 2026 in “Experimental & Molecular Medicine” This study used integrated single-cell chromatin and transcriptomic analyses in developing mouse skin to uncover gene networks involved in skin lineage specification and identified Mef2c+ upper fibroblasts as potential precursors to certain muscle-like structures, with cross-species findings in human skin.
1 citations
,
October 2025 in “Nature Communications” This study observed that, in mouse ear epidermal stem cells, a cell-autonomous size control mechanism involving the RB pathway dictates S phase entry timing based on cell size, despite external environmental variations affecting growth rates.
62 citations
,
March 2008 in “American Journal of Human Genetics” This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.
3 citations
,
June 2020 in “Developmental Cell” This study observed that in chicken skin, large-scale differences in gene expression between feathered and scaly skin are controlled by enhancer-driven uniform expression, while small-scale differences within individual feathers are associated with chromatin looping.
7 citations
,
January 2023 in “Frontiers in cell and developmental biology” This study found that Celsr1, not Celsr2, is the primary protein involved in establishing planar cell polarity and hair follicle polarization in the epidermis of mice.
June 2026 in “arXiv (Cornell University)” This study proposes a new test for genome-wide association studies that incorporates Hardy-Weinberg equilibrium into SNP analysis, demonstrating improved power and interpretability over traditional methods, as evidenced by simulations and an alopecia study dataset.
January 2017 in “대한미용학회지” This study observed that hair follicle cuticular cells undergoing keratinization were significantly thicker than those in a normal hair shaft, due to incomplete loss of cytosol.
72 citations
,
June 2001 in “Journal of Investigative Dermatology” This study suggests that S100A4 and S100A6 proteins may play key roles in activating stem cells for hair follicle regeneration in mice.
1 citations
,
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study created a detailed spatial atlas of healthy human skin and basal cell carcinoma, revealing a potential hair follicle origin for basal cell carcinoma and expansion of certain mesenchymal cell populations.
January 2019 in “Global Dermatology” This review discusses the genetic disorder, monilethrix, characterized by fragile, brittle hair and its inheritance patterns, and reports no new clinical results.
58 citations
,
April 2009 in “Dermatologic Surgery” This study presents guidelines for designing female hairlines, noting that most women in the sample had a widow's peak and specific average measurements for hairline features.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
22 citations
,
September 2001 in “Journal of Investigative Dermatology” S100A8 and S100A9 proteins help form hair shafts during growth.
29 citations
,
February 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that Merkel cell clusters require Frizzled6 signaling for their polarity information, while other hair follicle-associated structures align their orientation based on the hair follicle itself.
34 citations
,
January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
48 citations
,
July 1993 in “Archives of Dermatological Research” Merkel cells are abundant in facial vellus hair follicles, especially during the anagen phase.
28 citations
,
June 2020 in “Poultry Science” This study found that injecting L- or DL-Methionine into chick embryos increased feather growth and follicle development by activating the Wnt/β-catenin signaling pathway, with no difference between the two methionine forms.
25 citations
,
May 2004 in “Prenatal Diagnosis” This study suggests that prenatal genetic diagnosis of MELAS syndrome using amniotic cells may not reliably predict fetal outcomes due to phenotypic diversity observed in siblings with similar levels of mutant mtDNA.
21 citations
,
September 2021 in “Fertility and Sterility” This study found that the Elecsys AMH Plus immunoassay with a cutoff of 3.2 ng/mL is effective for diagnosing polycystic ovarian morphology, showing high sensitivity and specificity across different PCOS phenotypes.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” This review discusses the clinical phenotypes of primary mitochondrial cytopathies linked to significant genetic defects in mitochondrial DNA, reporting no new clinical results; the authors emphasize the need for differential diagnosis.
9 citations
,
May 2021 in “Frontiers in Cell and Developmental Biology” This study found that DNA methylation changes in granulosa cells from PCOS patients affect gene expression related to insulin resistance, fat cell differentiation, and steroid metabolism, suggesting an epigenetic contribution to PCOS pathogenesis.
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.
January 2020 in “Mastology” This study reports a case of a 28-year-old woman diagnosed with metastatic breast cancer through bone marrow analysis using flow cytometry and immunohistochemistry, highlighting the potential of flow cytometry as a valuable diagnostic tool for detecting solid tumors.
10 citations
,
November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced laser particles as a new imaging probe capable of real-time tracking of thousands of individual cells in 3D tumor models, suggesting potential for advanced single-cell analyses.
23 citations
,
March 2023 in “eLife” This study reveals that epidermal stem cell differentiation in mice involves dynamic transcriptional changes, with Keratin-10 transcription preceding gradual chromatin compaction shifts associated with differentiation.