ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
72 citations
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January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
1 citations
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August 2020 in “Open Access Macedonian Journal of Medical Sciences” Skin problems like rashes and hair loss can help diagnose and predict COVID-19.
11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
November 2024 in “Journal of Investigative Dermatology” Scalp hair follicle cells help protect and heal skin in certain skin conditions.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
1 citations
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January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
July 1974 in “Archives of dermatology” The woman's widespread skin condition did not improve despite various treatments.
January 2004 in “Journal of Guangzhou University of Traditional Chinese Medicine” Androgen receptor abnormalities may contribute to hair loss in androgenetic alopecia.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A new staining method shows a special area in the hair's skin layer with lots of proteoglycans.
October 2025 in “Skin Research and Technology” 3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
44 citations
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January 2011 in “Journal of Cutaneous Pathology” The HoVert technique is a simple, cost-effective new method that improves alopecia diagnosis by allowing detailed analysis from a single biopsy.
1 citations
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February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
34 citations
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February 2012 in “American Journal of Dermatopathology” Calretinin can help identify certain skin structures and tumors.
4 citations
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January 2009 in “Indian Journal of Dermatology, Venereology and Leprology” A patient with granuloma annulare experienced both isotopic and isomorphic responses, with skin lesions responding to steroids but relapsing after stopping treatment.
April 2024 in “International Journal of Women’s Dermatology” Laser hair reduction can sometimes cause a rare skin condition called Fox-Fordyce disease.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
January 2024 in “Journal of Scleroderma and Related Disorders” PRP injections improve skin appearance and are safe for treating morphea.
20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
4 citations
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July 2018 in “Molecules” Gene expression in milk cells and blood can help detect illegal rbST use in cows.
October 2022 in “Amplla Editora eBooks”
November 2022 in “Journal of the Endocrine Society” Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
9 citations
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October 2015 in “Postgraduate Medical Journal” Scurvy can cause skin issues and is treatable with vitamin C.
July 2014 in “Plastic and Reconstructive Surgery” The document concludes that rib-sparing techniques in breast reconstruction have limited benefits, sentinel lymph node biopsy is needed for desmoplastic melanoma, certain hair preservation methods improve graft survival, partial turbinectomy effectively reduces nasal obstruction, nipple shields with irrigation may reduce capsular contracture, and thicker malignant melanomas have a higher risk of non-skin cancers.
July 2014 in “Plastic and Reconstructive Surgery” The document concludes that rib-sparing techniques in breast reconstruction have limited benefits, sentinel lymph node biopsy is needed for desmoplastic melanoma, certain hair preservation methods improve graft survival, partial turbinectomy effectively reduces nasal obstruction, nipple shields with irrigation may reduce capsular contracture, and thicker malignant melanomas have a higher risk of non-skin cancers.
October 2019 in “Research Square (Research Square)” The junction of the inner and outer prepuce with good blood flow is best for vascular pedicle flaps.
28 citations
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April 2009 in “Annals of laboratory medicine” The dense fine speckled pattern in ANA tests is common in autoimmune diseases, challenging previous beliefs that it was unrelated.