September 2020 in “Oral surgery, oral medicine, oral pathology and oral radiology” The report shows that a rare benign tumor was successfully removed from inside the mouth to avoid scarring on the face.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
August 2015 in “PubMed Central” Epithelial-derived Pop-Up Keratinocytes (ePUKs) may enhance wound healing in regenerative medicine.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
17 citations
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March 2006 in “BJU international” Using buccal mucosa for hypospadias repair in children is effective and reduces complications.
3 citations
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July 2013 in “Journal of Cutaneous Pathology” A woman's hair loss, resembling an autoimmune condition, improved after treatment, but requires ongoing checks due to potential serious associations.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
3 citations
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February 2019 in “Journal of endourology case reports” Polypoid cystitis can mimic bladder cancer but can be effectively treated with surgery, stents, and medication.
3 citations
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December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
7 citations
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October 2017 in “Journal of exotic pet medicine” A guinea pig with ovarian cysts had a uterine infection and abnormal uterus lining due to a piece of hay inside it.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
17 citations
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July 2024 in “Frontiers in Oncology” New therapies and trials are needed for Merkel cell carcinoma, a tough skin cancer.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
3 citations
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July 2024 in “Annals of Biomedical Engineering” Multiphoton microscopy can effectively detect early endometrial cancer by analyzing collagen changes.
33 citations
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March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.
6 citations
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October 2011 in “ISRN Ophthalmology” Higher testosterone and dehydroepiandrosterone sulphate levels may help diagnose meibomian gland dysfunction.
178 citations
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April 2011 in “Journal of Clinical Investigation” Basal cell carcinomas in mice can start from hair follicle stem cells and other skin cell types, depending on signaling levels.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
95 citations
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September 2012 in “Oman Medical Journal” Mutations in keratin genes can cause skin and mucosa disorders.
33 citations
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September 1987 in “American Journal of Medical Genetics” Uncombable hair is inherited dominantly with complete penetrance.
4 citations
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July 2014 in “International Journal of Dermatology” Twins had rare skin cysts likely due to genetics.