21 citations
,
July 2011 in “Journal of the American Academy of Dermatology” A man developed a rash similar to pityriasis rubra pilaris after starting sorafenib for cancer, possibly due to the drug's effect on skin cells.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
April 2016 in “Journal of Investigative Dermatology” Decreasing MIG6 can increase the movement and invasiveness of MEK-inhibited mutant NRAS melanoma, particularly when stimulated by EGF.
35 citations
,
April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
November 2022 in “Scientific Reports” Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.
8 citations
,
January 2022 in “Infectious diseases News Opinions Training” Genetic differences affect COVID-19 severity and treatment effectiveness.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
33 citations
,
June 2009 in “Journal of Cutaneous Pathology” Erlotinib can cause nonscarring hair loss and itchy skin.
119 citations
,
September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
10 citations
,
October 2000 in “PubMed” E6/E7 oncogenes in hair follicles cause continuous hair growth by skipping the resting phase.
1 citations
,
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.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
18 citations
,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
January 2026 in “Human Mutation” T cell subsets are crucial in kidney cancer, and a new model predicts patient outcomes using key genes.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
9 citations
,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
December 2022 in “International Journal of Molecular Sciences” Afatinib, neratinib, and zanubrutinib could be effective against KRASG12C-mutant tumors.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
November 2023 in “Journal of Investigative Dermatology” Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” Certain gene combinations improve cashmere quality and production in Liaoning goats.
1 citations
,
October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
101 citations
,
October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
3 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” Certain gene variations may increase the risk of PCOS in South Indian women.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.