2 citations
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September 2021 in “F1000Research” The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study developed a mouse model for Alopecia Areata that responds to treatment, useful for future research.
September 2020 in “Acta Scientific Cancer Biology” Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
December 2023 in “Research Square (Research Square)” These specific gene polymorphisms are not linked to Alopecia Areata in Egyptians.
1 citations
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November 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Mohs micrographic surgery is effective for treating basal cell carcinoma on the eyelid, while radiotherapy has higher recurrence rates, and topical vitamin D3 may reduce and delay BCC formation in mice.
29 citations
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July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
March 2026 in “Animal Models and Experimental Medicine” Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.
2 citations
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October 2000 in “Journal of Investigative Dermatology” AUC and APL are distinct conditions needing careful clinical assessment.
August 2024 in “OSMANGAZİ JOURNAL OF MEDICINE” The visfatin GT genotype may increase the risk of Alopecia Areata.
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
49 citations
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August 2004 in “The FASEB Journal” Mice with human skin protein K8 had more skin problems and cancer.
2 citations
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
37 citations
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November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
16 citations
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July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
October 2012 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Six new genes linked to early hair loss were found, which also surprisingly connect to Parkinson's disease and lower fertility.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
38 citations
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June 2005 in “International Journal of Dermatology” A man with nevus comedonicus syndrome had multiple skin issues, including basal cell carcinomas, which improved with treatment.
158 citations
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December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
June 2024 in “Dermatopathology” A rare type of skin cancer on the scalp can be mistaken for hair loss, causing delayed diagnosis and severe damage.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
3 citations
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February 2012 in “The American Journal of Dermatopathology” A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
16 citations
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December 2015 in “Journal of Investigative Dermatology” Alopecia areata involves persistent gene abnormalities and immune activity, even in regrown hair, suggesting a risk of relapse.
1 citations
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April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
47 citations
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February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
Integrin alphavbeta6 is important for wound healing and hair growth, and blocking it may improve these processes.