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.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
20 citations
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July 2005 in “Experimental dermatology” The fuzzy gene is crucial for controlling hair growth cycles.
4 citations
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January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
3 citations
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May 2011 in “Journal of Obstetrics and Gynaecology” A woman's pelvic pain and bleeding led to finding and successfully treating a rare benign tumor in her reproductive system.
February 2020 in “Journal of chemical neuroanatomy” Researchers found a way to make rat hair follicle cells start turning into motor neuron-like cells, but couldn't fully turn them into working motor neurons.
66 citations
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July 2007 in “Journal of Molecular Medicine” Stress increases certain chemicals in the skin and nerves, which might worsen skin conditions.
10 citations
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August 2016 in “Dermatology Online Journal” Nilotinib can cause skin issues like red bumps and hair loss.
33 citations
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March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.
2 citations
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March 2025 in “Cancer Gene Therapy” Targeting Sirt1 can reduce androgen levels and slow glioblastoma growth.
1 citations
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July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
36 citations
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June 2021 in “Experimental & Molecular Medicine” Targeting Hedgehog signaling may help treat ligamentum flavum fibrosis.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
21 citations
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November 2010 in “Journal of molecular medicine” FoxN1 gene is essential for proper thymus structure and preventing hair loss.
July 2023 in “Clinical, cosmetic and investigational dermatology” Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
October 2018 in “InTech eBooks” The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
April 2020 in “Research Square (Research Square)” Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
September 2025 in “Cureus” Plica neuropathica can occur with diffuse alopecia and should be considered in diagnosis.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
26 citations
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April 1996 in “Journal of Investigative Dermatology” 13 citations
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August 2023 in “Developmental Cell” Mechanosensory neurons adapt to different skin types after birth.
1 citations
,
March 2024 in “Genes & Diseases” EBF1 controls hair type and length.