January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
January 2016 in “Experimental Dermatology” This article in Experimental Dermatology does not include an abstract or any new research findings.
March 2007 in “Journal of Cell Science” This study found that keratin K1014chim expression in mice did not reduce epidermal cell proliferation but increased susceptibility to benign tumors, challenging previous beliefs about K10's role in inhibiting tumor development.
17 citations
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January 2010 in “PubMed” CD10 helps distinguish between basal cell carcinoma and benign hair follicle tumors.
18 citations
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January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
27 citations
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April 2011 in “International journal of legal medicine” This study reports that the completeness of DNA degradation in hair during cornification varies among individuals and affects the success rates of forensic hair DNA analysis.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”
October 2022 in “Frontiers in Genetics” This study found that miRNAs increase and target mRNAs and lncRNAs decrease from the anagen to telogen phase in mouse hair follicles, and these ceRNA networks may play a role in hair follicle cycling.
71 citations
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February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
This study found that Pygo2 is crucial for early intestinal hyperproliferation induced by stabilized β-catenin, suggesting it as a potential target for therapeutic intervention in cancers with β-catenin mutation.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
January 2006 in “Chieh P'ou Hsueh Pao” In this study, the researchers observed that transfecting hair follicle cells with an amino-terminal truncated beta-catenin gene significantly increased cell proliferation, potentially by enhancing c-myc gene expression.
30 citations
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January 2009 in “Nuclear Receptor Signaling” This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
July 2025 in “Scientific Reports” In this study, researchers identified six novel prognostic biomarkers for bladder cancer and developed a predictive model that effectively stratifies patients into high-risk and low-risk groups based on immune cell infiltration differences and gene expression.
2 citations
,
July 2021 in “UNC Libraries” This study suggests that residues Val-889 and Arg-752 in the androgen receptor's steroid binding domain are crucial for NH2-/carboxyl-terminal interaction, affecting receptor stability and function.
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.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
2 citations
,
October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
15 citations
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July 2016 in “Biochemical Journal” This study found that Wnt ligands from CD133-positive dermal papilla cells are essential for maintaining hair growth by supporting cell signaling between different hair follicle structures.
6 citations
,
February 2022 in “The journal of neuroscience/The Journal of neuroscience” This study observed that deleting PTEN in mouse facial motoneurons enhanced peripheral axon regeneration but also led to physiological changes and potential hyperplasia in older mice.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.
42 citations
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January 2015 in “Polskie Archiwum Medycyny Wewnętrznej” This study found that certain gene polymorphisms, specifically MTHFR 677CC and GGH 401TT and CT genotypes, were associated with fewer adverse effects from methotrexate in rheumatoid arthritis patients.
May 2024 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This case study describes a middle-aged woman diagnosed with a proliferating trichilemmal tumor on her scalp, emphasizing the importance of comprehensive diagnostic approaches and highlighting surgical excision as the primary treatment.
April 2023 in “Journal of Investigative Dermatology” This study found that ALRN-6924 effectively protected human hair follicles from cyclophosphamide-induced damage in an ex vivo setting, suggesting it may reduce both acute and permanent chemotherapy-induced alopecia.
11 citations
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January 2018 in “Acta dermato-venereologica” In this study, researchers identified gremilin-2 as a highly specific gene to the dermal sheath cup, suggesting it plays a key role in maintaining its properties.
January 2013 in “edoc (University of Basel)” This study found that TRF1 plays a crucial role in maintaining pluripotency and stem cell compartments, but it is not a suitable in vivo telomere length marker.
3 citations
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January 2017 in “Dermatology online journal” This case report describes the diagnosis of monilethrix in a 2-year-old boy using trichoscopy, highlighting its rarity and the challenge of diagnosing it without a family history.