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.
September 2021 in “Journal of the American Academy of Dermatology” This study found that reported stress and hair growth changes related to facial/body hair excess or scalp hair loss differ among ethnic gender minority groups, with black and other ethnic respondents experiencing more stress compared to Caucasians, particularly in relation to facial/body hair excess.
January 2024 in “Authorea (Authorea)” This source suggests that convalescent plasma therapy may interfere with early immune responses in COVID-19 due to exosomes suppressing immune cell activity, but proposes it could potentially help with COVID-19 Long Hauler Syndromes by targeting diverse antigen responses beyond just the spike protein.
January 2006 in “Chieh P'ou Hsueh Pao” This study established a method for selecting human hair follicle stem cells through quick-adherence to collagen, and found that β-catenin plays a role in their proliferation and differentiation.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
10 citations
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September 2021 in “The FASEB Journal” This study found that ACKR2 plays a crucial role in reducing inflammatory skin fibrosis and promoting inflammation resolution through IFN‐β production, limiting tissue scarring.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
59 citations
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January 2010 in “International Journal of Pediatric Endocrinology” This review discusses the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and provides no new clinical results.
May 2023 in “Frontiers in Endocrinology” This study found that tildacerfont treatment in males with congenital adrenal hyperplasia reduced androgen levels and improved markers of testicular function, suggesting potential benefits for male reproductive health.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
January 2016 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study demonstrates that collagen XVII is crucial for normal glomerular development, is present in normal colon epithelia, and plays a role in carcinogenesis in colorectal and squamous cell cancers.
21 citations
,
October 1980 in “Gastroenterology” This report is the first to associate Cronkhite-Canada syndrome with multiple myeloma, describing regenerative pseudopolyps in a 58-year-old woman rather than true adenomatous polyps.
28 citations
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June 1998 in “Clinical Genetics” This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.
74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
2 citations
,
March 2010 in “Acta Biochimica Polonica” This study observed that conjugates of the anticancer drug raltitrexed with dextran and albumin were more cytotoxic than the free drug at high concentrations, altering cell cycle effects.
16 citations
,
August 2021 in “Tumor Biology” This review discusses the dual role of the TMPRSS2 gene in coronaviral lung infection and prostate cancer, cautioning against TMPRSS2 inhibitors for early prostate cancer due to potential pro-inflammatory effects.
This study analyzed the genetic variations of the KAP20-1 gene in Chinese Tan sheep lambs and found that the G variant was linked to an increased mean fibre curvature in their fine wool fibres, potentially influencing breeding strategies for this wool trait.
10 citations
,
January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
12 citations
,
January 2016 in “Endocrinology, diabetes & metabolism case reports” This report describes a 19-year-old male with 49,XXXXY syndrome receiving testosterone replacement therapy, which led to improvements in reproductive development, metabolism, and social interaction after a year of treatment.
4 citations
,
May 2024 in “Cytotechnology”
December 2022 in “Gastroenterology” This report describes a case of Cronkhite-Canada syndrome diagnosed in a 54-year-old man with symptoms including gastrointestinal polyps, alopecia, skin hyperpigmentation, and severe diarrhea, who experienced significant symptom improvement with azathioprine.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.
49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
1 citations
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March 2022 in “Frontiers in Medicine” This case report highlights a rare instance of esophageal carcinoma in a patient with Cronkhite-Canada syndrome, emphasizing the importance of endoscopic surveillance for malignant gastrointestinal tumors in these patients.
January 2015 in “ScholarlyCommons (University of Pennsylvania)” This study discovered that DNA damage independently induces IL-19 and IL-24 cytokines, which regulate senescence-associated secretory phenotype factors, suggesting potential pathways for treating cancer and age-related diseases.
21 citations
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January 2013 in “Clinical Endoscopy” This study reports the first case in South Korea of Cronkhite-Canada syndrome associated with malignant colon polyp and serrated adenoma.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.