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.
76 citations
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January 1998 in “Mammalian Genome” 7 citations
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June 2022 in “Biology” In this study, researchers observed that male COVID-19 patients with more than 23 CAG repeats in the androgen receptor gene and lower testosterone levels experienced more severe disease outcomes.
April 2024 in “Anais Brasileiros de Dermatologia”
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” This study reports previously unreported nail features in Cronkhite-Canada syndrome, specifically recurrent onychomadesis of all 20 nails linked to systemic illness.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.
4 citations
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August 2022 in “Cells” This study found that the lncRNA lncRNA2919 is involved in hair follicle regeneration by downregulating growth-related genes, inhibiting cell proliferation, and promoting apoptosis in rabbit dermal papilla cells.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
3 citations
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January 2011 in “Intestinal Research” This article reports on a patient case of Cronkhite-Canada syndrome, detailing symptoms and diagnostic findings, and reviews the syndrome's characteristics without presenting new clinical data.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
8 citations
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January 2022 in “Infectious diseases News Opinions Training” This review discusses gene polymorphisms in COVID-19 patients but reports no new clinical findings.
1 citations
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May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
31 citations
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April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.
2 citations
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June 2020 in “Research Square (Research Square)” This study demonstrated that the antiandrogen drug enzalutamide may reduce TMPRSS2 levels in human lung cells and mouse lungs, supporting its potential as a COVID-19 treatment option.
3 citations
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January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
16 citations
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September 2020 in “Animals” This study found that circRNA-1926 promotes hair follicle stem cell differentiation in cashmere goats by sponging miR-148a/b-3p to increase CDK19 expression.
38 citations
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January 2020 in “Cell Transplantation” This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.
May 2025 in “The Journal of Rheumatology” In this case report, two patients with coexisting systemic lupus erythematous and neuromyelitis optica spectrum disorder achieved remission of SLE activity using an anti-CD19 monoclonal antibody.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.
6 citations
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November 2018 in “Case reports in nephrology and dialysis” This case report detailed a 71-year-old male with Cronkhite-Canada syndrome and associated membranous nephropathy, who showed a significant improvement in skin and gastrointestinal symptoms, and remission of nephropathy, after treatment with rituximab, cyclosporine, and azathioprine.
19 citations
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February 2013 in “Archives of Dermatological Research”
November 2025 in “Cancer Management and Research” This study highlighted Keratin 17's critical role in cancer therapy resistance across several malignancies, involving various signaling pathways, and identified it as a significant biomarker and potential therapeutic target, particularly in reversing resistance.
1 citations
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September 2019 in “Steroids” In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
In this study, the authors reported that certain SNPs on chromosome 20 were associated with androgenetic alopecia in the ethnic Han population of Yunnan, with specific alleles linked to higher likelihood of developing the condition.
22 citations
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January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.