June 2023 in “medRxiv (Cold Spring Harbor Laboratory)” Nociplastic type pain, common in Chronic Overlapping Pain Conditions, is a complex, heritable trait linked to 24 unique genetic factors and 127 genes, with potential shared mechanisms in cognitive, personality, and metabolic traits.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
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.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
25 citations
,
June 2018 in “Journal of The American Academy of Dermatology” Genes linked to fibrosis are more active in people with central centrifugal cicatricial alopecia.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
8 citations
,
June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
2 citations
,
August 2022 in “Viruses” Skin cancer often starts from Lgr5+ progenitor cells.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
April 2023 in “Journal of Investigative Dermatology” Higher PD-1 levels are linked to fewer immune cells in hair follicles in alopecia areata.
May 2021 in “Experimental Cell Research” FOXC1 boosts SFRP1 in hair loss, suggesting new treatments.
GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
37 citations
,
February 2007 in “Experimental Dermatology” Increasing PDCD4 protein may help prevent or treat some skin cancers.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
December 2024 in “Journal of Cosmetic Dermatology” ME1 and PPAR signaling may influence hair loss in androgenetic alopecia.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
1 citations
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February 2009 in “Clinical Genetics” New genes linked to male pattern baldness were found on chromosome 20p11.
22 citations
,
August 1999 in “Mechanisms of Development” Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
1 citations
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September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
1 citations
,
April 2008 in “Pigment Cell & Melanoma Research” Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
8 citations
,
January 2013 in “genesis” Zfp157 is active in many mouse tissues during development and in specific adult cells.
141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
70 citations
,
December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.