A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
153 citations
,
January 2001 in “Science” Using CDK inhibitors on rats showed a reduction in chemotherapy-caused hair loss, but later experiments could not repeat these results.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
19 citations
,
March 2022 in “Molecular therapy. Nucleic acids” A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
July 2022 in “Journal of Investigative Dermatology” Dkk4 is necessary for the initial development and arrangement of hair follicles.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
April 2026 in “Research Square” 18 citations
,
September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
3 citations
,
December 2023 in “Aging” hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
9 citations
,
January 2019 in “American Journal of Dermatopathology” DKK-1 gene linked to hair loss in AGA and AA patients; more research needed for potential therapy.
June 2023 in “Journal of Clinical Oncology” CDK4/6 inhibitors may cause hair loss in breast cancer patients.
January 2025 in “Iraqi Journal of Science” PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
9 citations
,
November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
24 citations
,
January 2023 in “Cancer Research” AMPK activation may reduce melanoma risk in red-haired individuals.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.