98 citations
,
June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
34 citations
,
August 2018 in “Cancer research” Fixing DNA errors is crucial to prevent skin cancer.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
12 citations
,
February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
11 citations
,
March 2013 in “Gene” A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
3 citations
,
December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
July 2025 in “Pediatric Transplantation” A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
2 citations
,
October 2021 in “Bioinformation” Certain gene variants are linked to a higher risk of polycystic ovary syndrome, hair loss, and obesity in women from western Saudi Arabia.
5 citations
,
January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
121 citations
,
December 2001 in “American Journal of Dermatopathology” TB and BCC tumors show similar follicular differentiation patterns.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
40 citations
,
July 2023 in “Clinical Pharmacology & Therapeutics” Targeted protein degraders show promise in treating cancer but need to target more diverse proteins.
October 2024 in “Journal of the Endocrine Society” Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
6 citations
,
January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
July 2025 in “Journal of Investigative Dermatology” Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
January 2025 in “Case Reports in Oncological Medicine” Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
1 citations
,
April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
14 citations
,
July 2021 in “Bioscience Reports” Activating Tgr5 may help treat hair loss and bone loss.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
15 citations
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March 2021 in “EMBO Reports” PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
April 2026 in “Research Square”
4 citations
,
June 2025 in “Medeniyet Medical Journal” TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
24 citations
,
March 2016 in “Journal of Investigative Dermatology” TIP39 and PTH2R help control calcium levels and skin cell development.
9 citations
,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.