1 citations
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October 2017 in “ecancermedicalscience” This study observed that the molecular structure of keratins in hair fibres' discrete transition zone differs in breast cancer patients, with altered lipid ester absorption bands reverting post-cancer removal.
November 2023 in “International Journal of Dermatology” In this study, CCCA patients were found to have higher odds of metabolic, autoimmune, atopic, and psychiatric comorbidities compared to matched controls.
41 citations
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April 1997 in “Fertility and sterility” In this case study, clomiphene citrate therapy restored hormonal balance and improved symptoms in a young male runner with hypogonadotropic hypogonadism related to endurance exercise.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
November 2022 in “Frontiers in pediatrics” This case report found that a child with acrodermatitis enteropathica showed significant improvement in symptoms after continuous zinc supplementation and identified two SLC39A4 mutations through genetic sequencing.
June 2026 in “Journal of Investigative Dermatology” This study reported that the anti-γc antibody hC2 restored hair follicle homeostasis and suppressed hair loss in an AA-like mouse model by inhibiting autoreactive T-cell activity, suggesting that hC2 may offer a safer and more effective treatment for alopecia areata compared to current Jak inhibitors.
November 2005 in “PubMed” In this study, the researchers successfully cloned and sequenced the hairless gene cDNA of Kunming mice, revealing high conservation and functional significance among various mammalian species.
14 citations
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December 1998 in “British Journal of Cancer” This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.
5 citations
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July 2019 in “Applied statistics/Journal of the Royal Statistical Society. Series C, Applied statistics” In this study, applying case-only trees and random forests to a prostate cancer prevention trial revealed genotypes that may influence the efficacy of finasteride for prostate cancer prevention.
1 citations
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July 2017 in “PubMed” This study describes two Danish cases of Cronkhite-Canada syndrome presenting with malnutrition and gastrointestinal issues; both patients underwent successful treatment and remission after developing colonic adenocarcinomas.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers found that the NUDT15 R139C gene variant is a significant genetic risk factor for azathioprine-induced severe myelotoxicity in Japanese patients with dermatological conditions, suggesting that screening for this variant may help prevent adverse reactions in East-Asian populations.
26 citations
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September 2020 in “Journal of the European Academy of Dermatology and Venereology” This publication is a letter discussing the association between an androgen receptor genetic variant and COVID-19 disease severity in hospitalized male patients, but it reports no new research results.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
61 citations
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September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
3 citations
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May 2025 in “Plant Cell & Environment” This study found that in Arabidopsis, the CLE14 peptide regulates root hair growth by promoting elongation, an effect that requires CLV2 and CRN proteins and involves ethylene signalling along with hydrogen peroxide and nitric oxide pathways.
July 2021 in “Clinical Medicine” This abstract does not report research results but acknowledges feedback concerning adherence to inclusion criteria from a prior study on the Ottawa rule by Perry et al., as shared in their CT-based clinical research.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
20 citations
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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.
June 2024 in “British Journal of Dermatology” In this case study, a 46-year-old post-transplant woman with poorly controlled diabetes exhibited a rare acquired form of epidermodysplasia verruciformis associated with HPV-49, marked by unique histological findings that distinguishing it from trichodysplasia spinulosa.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
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.
22 citations
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November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that cathepsin L and transglutaminase 3 colocalize in the human hair bulb and nail matrix, suggesting their involvement in terminal differentiation within these epidermal appendages.
1 citations
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May 2011 in “Molecular Medicine Reports” This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.
4350 citations
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May 2012 in “Arthritis & Rheumatism” This study found that the new SLICC classification criteria for systemic lupus erythematosus were more sensitive and resulted in fewer misclassifications than the current ACR criteria, although they had lower specificity.
19 citations
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August 2020 in “Gastroenterology report” This review discusses the characteristics and challenges in treating Cronkhite–Canada syndrome but reports no new clinical findings, emphasizing the need for better understanding and uniform treatment approaches.
1 citations
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April 2022 in “The Journal of Urology” This study observed that discontinuation rates due to side effects were similar for penicillamine and tiopronin among cystinuria patients, and switching to the alternative agent was beneficial for half of those experiencing issues.
2 citations
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January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.