4 citations
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January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that zebrafish and stickleback fish use similar genetic programs for tooth regeneration, despite differences in their dental structures.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
November 2025 in “Frontiers in Immunology” In this study, researchers found significant links between specific metabolic reprogramming-related genes and alopecia areata risk, highlighting increased SQSTM1 expression in affected hair follicles compared to healthy ones.
13 citations
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November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
43 citations
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April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
6 citations
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January 2022 in “BIO-PROTOCOL” This article provides a protocol for live imaging of C. elegans germline stem cells, highlighting their potential for studying mitosis and other cell processes, but does not report new experimental findings.
16 citations
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April 2012 in “Journal of mammalogy” Among Australian fur seals at one colony, this study found that alopecia, primarily affecting juvenile females, is linked to hair shaft fractures associated with low tyrosine and zinc levels, as well as higher pollutant exposure.
10 citations
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September 1997 in “Molecular carcinogenesis” This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.
1 citations
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July 2025 in “Cancer Medicine” This study observed that colorectal cancer tumoroids adapted to an environment without a matrix by developing disordered self-assembly, but their tumor-specific phenotypes and drug sensitivity remained unchanged.
9 citations
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April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
April 2012 in “The FASEB Journal” In this study, researchers observed that knocking down the LPA 4 receptor in zebrafish embryos led to vascular and lymph vessel development abnormalities, including edema and decreased heartbeats.
January 2024 in “Wiadomości Lekarskie” In this study, researchers examined a patient with ZMYM2::FGFR1 fusion-positive leukemia, finding that Pemigatinib showed efficacy, while Ponatinib resistance was linked to a specific FGFR1 mutation. Other FGFR inhibitors demonstrated high effectiveness in ex vivo assays.
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.
57 citations
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July 2005 in “Genetics” In this study on Drosophila wings, researchers identified 435 genes with significant expression changes during wing hair morphogenesis, and found new phenotypes for 9 genes through functional validation.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This case report describes a five-year-old boy diagnosed with nevus comedonicus syndrome, a rare skin condition, characterized by asymptomatic skin lesions and a congenital cataract of the right eye, without inflammation or typical signs of related conditions.
11 citations
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April 2021 in “Cancers” This study identified a small molecule that activates GLI1, suppressing neuroblastoma cell growth, which may aid in developing new treatments for high-risk neuroblastoma cases.
44 citations
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January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the PPARγ modulator NAC-GED-0507-Levo may protect hair follicles from chemotherapy-induced damage, potentially offering a strategy to address irreversible hair loss in cancer patients.
This article discusses the role of epimorphin as a key morphoregulator for various epithelial cells in tubulogenesis and reports no experimental results on its signaling pathways.
40 citations
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July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
69 citations
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January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
This research found that nod factor can induce root hair reorientation and gene expression in Medicago truncatula with as little as a single molecule, implicating heterotrimeric G-protein signaling in this process.
324 citations
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May 2002 in “Oncogene” 1 citations
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January 2017 in “International Journal of Trichology” This case report describes a 6-year-old girl diagnosed with monilethrix, experiencing hair fragility and loss after a fever, and showing improvement in hair density following treatment, despite persistent symptoms.
December 2024 in “Genome Biology and Evolution” This study found that the Florida worm lizard has lost certain genes associated with claw development, which are present in other lizard species with claws, suggesting a link between the evolution of their limbless body and the loss of claw-related genes.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
3 citations
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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.