July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
15 citations
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January 1991 in “Mammalian Genome”
April 2018 in “Journal of Investigative Dermatology” January 2026 in “Journal of the Egyptian Womenʼs Dermatologic Society” High levels of HSP70 and IL-15 are linked to more severe alopecia areata.
5 citations
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March 2023 in “Archives of dermatological research” Increased HIF-1α is linked to the inflammation and severity of hidradenitis suppurativa, suggesting treatments that lower HIF-1α could help.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
8 citations
,
March 2014 in “American Journal of Pathology” Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
27 citations
,
May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
32 citations
,
May 1999 in “Biochemical and Biophysical Research Communications” A new enzyme, BSSP, is found in high amounts in the hair follicles of nude mice.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
24 citations
,
January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
June 1996 in “Journal of Dermatological Science”
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
11 citations
,
January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
7 citations
,
August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
Defective nuclear transport may cause gene expression changes in Progeria.