43 citations
,
October 2006 in “Journal of Cell Science” Keratin 10 end domains may increase skin cancer risk by reducing cell death.
February 2025 in “PubMed” Switching JAK inhibitors can lead to significant hair regrowth in severe alopecia cases.
February 2009 in “Journal of The American Academy of Dermatology” Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
April 2025 in “International Journal of Dermatology” JAK inhibitors effectively reduce alopecia areata symptoms in Black patients.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
January 2025 in “eScholarship@McGill (McGill)” Jag2 is essential for proper skin cell differentiation and organization.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
1 citations
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September 2025 in “JAAD reviews.” Janus kinase inhibitors are effective for severe alopecia areata, promoting hair regrowth.
September 2023 in “Journal of the American Academy of Dermatology” Oral Janus kinase inhibitors are effective for treating alopecia areata in adults.
1 citations
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August 2015 in “Experimental Dermatology” KIT's role in skin cells is not entirely independent, as other cells can influence its function.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
1 citations
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February 2021 in “Farmacja Polska” Janus kinase inhibitors show promise in treating autoimmune skin diseases.
1 citations
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May 2024 in “Pediatric Blood & Cancer” Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
20 citations
,
March 2021 in “Cancers” Certain genetic variants increase the risk of aggressive prostate cancer.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
227 citations
,
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.
8 citations
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March 2023 in “PubMed” JAK inhibitors show promise in treating difficult skin diseases.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Patients with alopecia areata face challenges accessing Janus kinase inhibitors, but some see positive results.
July 2026 in “American Journal of Clinical Dermatology” Oral JAK inhibitors help regrow hair in alopecia areata with manageable side effects.
3 citations
,
April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
5 citations
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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.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
June 2026 in “Frontiers in Immunology” JAK inhibitors effectively treat inflammatory skin diseases by targeting specific cytokine signals.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.