June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
26 citations
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September 1999 in “Canadian Journal of Botany” This study found that a recessive mutation in the RHD4 gene of Arabidopsis thaliana leads to slower and more variable tip growth in seedling root hairs, resulting in shorter and wider hairs than in wild-type plants.
2 citations
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May 2019 in “Small ruminant research” This study identified polymorphisms in HGT-KRTAP7-1 and KRTAP8-1 genes in Argentine llamas that may impact fiber characteristics by altering amino acid residues critical for keratin-associated protein properties.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
11 citations
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November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
12 citations
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August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
5 citations
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May 2022 in “Diagnostics” This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
36 citations
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September 1999 in “Journal of Cell Science” This study suggests that basonuclin may act as a tissue-specific transcription factor for ribosomal RNA genes by interacting with the promoter region necessary for high transcription levels in human keratinocytes.
July 2023 in “New phytologist” This research identified a genetic mutation in Brachypodium distachyon that initially allows root hair initiation but fails to elongate them, while also affecting root growth and nitrate sensitivity; the mutation is linked to a previously uncharacterized cyclin-dependent kinase-like gene.
1 citations
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January 2023 in “Frontiers in genetics” This study identified specific genetic markers related to wool quality in Rambouillet sheep, which may aid breeders in making informed selection and breeding decisions for improved fine wool production.
August 2023 in “Journal of Dermatological Science” A specific RNA molecule blocks hair growth by affecting a protein related to hair loss conditions.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
November 2023 in “Scientific Reports” In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.
April 2018 in “Journal of Investigative Dermatology” This study found that high skin expression of amphiregulin in acute graft-versus-host disease was associated with severe disease grade, poor overall survival, and increased non-relapse mortality.
April 2026 in “Proceedings of the National Academy of Sciences” In this study, Tmem30b was identified as a key regulator of outer hair cell structure in mice, and its modulation may offer a therapeutic approach for certain types of hearing loss.
14 citations
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April 2021 in “Biology” This study found that ethanol extract of Tubtim Chumphae rice bran downregulates SRD5A gene expression, similarly to finasteride, suggesting potential use as an anti-hair loss product.
May 2024 in “JCI insight” In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.
September 2023 in “World Rabbit Science” In this study using Angora rabbits, researchers found that the FRZB gene inhibits hair follicle development by modulating the Wnt/β-catenin signaling pathway, affecting the expression of various genes related to this pathway and altering cell proliferation and apoptosis.
4 citations
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August 1999 in “Clinical Cosmetic and Investigational Dermatology” This study highlights the potential role of the CYP21A2 and CYP19A1 genes in severe acne vulgaris among Han Chinese, especially males.
4 citations
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February 2012 in “Chinese Science Bulletin” In this study, overexpression of the MtAnn3 gene in Medicago truncatula roots was associated with altered root hair growth polarity in a calcium-free environment.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
July 2016 in “Hair transplant forum international” This article discusses participation in the Brazilian Association of Hair Restoration Surgery's workshop on hair transplantation but does not present any new research findings.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
September 2023 in “Plant journal” This study showed that the zinc finger protein GIS3 is important for root hair growth in Arabidopsis by regulating RHD2 and RHD4 genes, with application of ethylene and cytokinin helping restore root hair presence in mutated variants.
2 citations
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July 2019 in “PLOS ONE” This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.
50 citations
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February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
12 citations
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December 2013 in “Immunological Investigations” This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.
This invention reports piperazine derivatives as potent inhibitors of type 3 17β-hydroxysteroid dehydrogenase, suggesting potential therapeutic applications in treating prostate cancer, acne, and androgenic alopecia.