46 citations
,
November 2007 in “Gene Expression Patterns” This study observed that Trps1 gene expression in mice is precisely regulated in skin development, particularly during hair follicle morphogenesis, with distinct localization patterns in different cell types.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
75 citations
,
January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
6 citations
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April 2018 in “Transplantation proceedings” This case report describes severe agranulocytosis and alopecia in a Japanese woman after starting azathioprine, highlighting the potential role of NUDT15 genetic screening in preventing adverse reactions to the drug.
43 citations
,
September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
27 citations
,
November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
10 citations
,
January 2010 in “Veterinary pathology” This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.
2 citations
,
June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
6 citations
,
October 2012 in “Journal of Heredity” This study identified the Itpr3 gene as responsible for the tufted hair loss phenotype in the BTBR mouse strain.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
1 citations
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April 2023 in “Heliyon” In this study, a 68-year-old man with muscle-invasive bladder cancer and renal insufficiency achieved a partial radiological response to neoadjuvant therapy with gemcitabine and Disitamab Vedotin, without significant adverse events, highlighting a potential alternative for cisplatin-ineligible patients.
4 citations
,
February 2023 in “International Journal of Stem Cells” The FTO gene hinders stem cells in hair follicles from becoming pigment cells.
59 citations
,
November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
September 2022 in “Research Square (Research Square)” This study found that a specific gene mutation was identified in a family with monilethrix, and treatment with 5% minoxidil liniment improved hair quality in the proband without adverse events.
May 2023 in “Skin research and technology” This study found that WD-aptamer increased β-catenin expression and promoted human hair follicle dermal papilla cell proliferation by interfering with the CXXC5-Dvl1 interaction in the Wnt signaling pathway.
1 citations
,
July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
1 citations
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July 2017 in “Cancer Research” This study found that overexpression of NSD3 in the mammary gland of transgenic mice led to mammary hyperplasia, dysplasia, and invasive ductal carcinoma, mirroring patterns seen in human breast cancer.
10 citations
,
March 2022 in “Frontiers in Oncology” This study found that the overexpression of the lncRNA HOTTIP in glioma cells increased resistance to the chemotherapy drug temozolomide, suggesting a key role for miR-10b and EMT processes in this resistance.
Defective protein folding due to a mutation is key in ANE syndrome.
9 citations
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April 2010 in “The Journal of Dermatology” This study suggests that nestin is an important marker for identifying HMB-45-negative cells in nodular melanomas, particularly in the dermal parts.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.