26 citations
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January 1992 in “Carcinogenesis” TPA strongly increases ODC activity in certain skin cells, potentially aiding tumor growth.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
1 citations
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May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
27 citations
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June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
65 citations
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March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
197 citations
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June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
10 citations
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January 2011 in “Annals of Dermatology” A rare scalp tumor involving two hair follicles was successfully removed with surgery, with no recurrence after 7 months.
36 citations
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September 1996 in “PubMed” DP and DS cells are different from DF cells in structure and function.
43 citations
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August 2010 in “Expert Opinion on Investigational Drugs” Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
November 2022 in “Journal of the Endocrine Society” A woman's masculine symptoms were caused by a rare tumor in her left ovary, which was found using a special blood test.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
27 citations
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June 2013 in “Genes & development” Cav1.2 affects hair growth and could be a target for hair loss treatments.
71 citations
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May 1996 in “Journal of Investigative Dermatology” Ornithine decarboxylase is crucial for hair growth regulation in mice.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
22 citations
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February 2007 in “Developmental neurobiology” Hormones and sex affect potassium channel gene expression in electric fish, influencing their communication signals.
October 2024 in “Journal of the Endocrine Society” Hypothyroidism may cause vertigo symptoms like BPPV.
2 citations
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July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
4 citations
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
2 citations
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August 2022 in “Middle East Fertility Society Journal” The new rodent model successfully mimics non-lean human PCOS symptoms.
June 2025 in “Journal of Ovarian Research” Accurate diagnosis is crucial to distinguish between PCOS and rare ovarian tumors in teens with similar symptoms.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
1 citations
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August 2024 in “Zanco Journal of Medical Sciences” Doppler ultrasonography can effectively detect blood flow changes in women with PCOS.
December 2025 in “TURKDERM” Facial trichostasis spinulosa is a chronic condition with significant cosmetic impact, especially in young women.