6 citations
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December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
22 citations
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January 2014 in “Journal of Interferon & Cytokine Research” Certain genetic variations in IL18 may increase the risk of alopecia areata in Koreans.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
17 citations
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November 2000 in “Journal of Investigative Dermatology” ZPK helps skin cells mature and may affect skin health.
10 citations
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February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
October 2021 in “International Journal of Dermatology” JAK inhibitors do not improve hair regrowth in androgenic alopecia but may prevent further hair loss.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
196 citations
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September 2016 in “JCI insight” Ruxolitinib effectively regrows hair in most patients with severe hair loss.
May 2024 in “Drugs & Therapy Perspectives” New treatments like JAK inhibitors offer hope for better alopecia areata management.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
April 2026 in “Laboratory Animal Research” The new Hairless R/J mice model improves imaging for tumor monitoring and cancer therapy evaluation.
182 citations
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December 2017 in “Journal of the American Academy of Dermatology” Some treatments can help with a hair loss condition called alopecia areata, but none ensure lasting results; choices depend on the person, with JAK inhibitors showing promise for severe cases.
March 2026 in “Dermatopathology” Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
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.
April 2020 in “The FASEB journal” Poncirin is a promising inhibitor of Janus Kinase 3, potentially better than tofacitinib.
April 2019 in “Journal of Investigative Dermatology” Merkel cell carcinoma is most likely to recur within two years of diagnosis, and factors like immune suppression, being over 75, and male sex increase this risk.
March 2026 in “JMIR Dermatology” Interest in JAK inhibitors for alopecia areata increased significantly after FDA approval, highlighting the need for patient education.
24 citations
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May 2009 in “The FASEB Journal” Akt2 and SGK3 are both important for normal hair growth and development.
61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
2 citations
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November 2019 in “Cancer reports” The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
March 2010 in “Ejc Supplements” CK 5/6 expression in breast cancer is linked to negative hormone receptor status and higher tumor grade.
8 citations
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December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
16 citations
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June 2018 in “JAAD case reports” A JAK inhibitor improved both severe hair loss and chronic skin disease in one patient.
Baricitinib is more effective than tofacitinib for hair regrowth in alopecia patients.
5 citations
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February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.