81 citations
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June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
April 2024 in “Histochemistry and cell biology” N-acetylcysteine may prevent hair loss caused by chemotherapy.
March 2021 in “Annals of King Edward Medical University” Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
44 citations
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January 1984 in “Molecular and Cellular Biochemistry” 3 citations
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September 1998 in “International Journal of Dermatology” Acitretin effectively improved the woman's skin condition.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
48 citations
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August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
November 2013 in “The Journal of Urology”
January 2023 in “Journal of the College of Physicians and Surgeons Pakistan” A rare ovarian tumor was successfully treated with surgery and chemotherapy.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
40 citations
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
1 citations
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July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
70 citations
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December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.
61 citations
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March 1966 in “Archives of Dermatology” Nevoid basal cell carcinomas start in the skin and hair follicles.
9 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
40 citations
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September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
23 citations
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June 2015 in “Clinica Chimica Acta” Researchers found potential urine markers for polycystic ovary syndrome, including testosterone-glucuronide and 11α-hydroxyprogesterone, which may help diagnose the condition.
97 citations
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January 2020 in “Advances in chronic kidney disease” Calcineurin inhibitors, used in kidney transplants, can cause a wide range of side effects including kidney damage and other health issues.
June 2025 in “Academic Medical Journal” High homocysteine levels in lupus may increase inflammation and cardiovascular risk.
17 citations
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December 2004 in “Bioorganic & Medicinal Chemistry Letters” Scientists found new, better-working inhibitors for a hormone-related enzyme.
1 citations
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March 2021 in “Phytomedicine plus” Cernitin™, a pollen extract, was found to significantly reduce pain and inflammation in rats with chronic prostatitis, suggesting it could be a useful alternative to certain anti-inflammatory drugs.
13 citations
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May 2001 in “Current problems in dermatology” Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Nicastrin deficiency may cause skin cell damage and pigmentation disorders in humans, similar to effects seen in fish.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
18 citations
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November 1994 in “Histochemical Journal” The enzyme PST is found in developing human kidneys and helps with detoxification and development.
14 citations
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January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
195 citations
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February 2005 in “Journal of biological chemistry/The Journal of biological chemistry” The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.
3 citations
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April 1991 in “PEDIATRICS” Children with frequent urination don't need extensive tests or aggressive treatments.