6 citations
,
April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
15 citations
,
December 2020 in “The Journal of General Physiology” Acid can block TRPV3 from outside the cell but boost its function from inside.
20 citations
,
March 2021 in “Cancers” Certain genetic variants increase the risk of aggressive prostate cancer.
March 2026 in “Animal Models and Experimental Medicine” Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.
29 citations
,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Glutamic acid helps mice grow hair.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
June 2022 in “Indian journal of clinical and experimental opthalmology” The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
24 citations
,
July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
99 citations
,
July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
51 citations
,
November 2011 in “British Journal of Dermatology” A gene called HDAC9 might be a new factor in male-pattern baldness.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
January 2016 in “Journal of Investigative Dermatology” Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
May 2020 in “International journal of molecular biology” Mutations in the AR gene cause hair thinning and loss.
April 2022 in “Microbiology and Immunology” A specific DNA pattern in Malassezia restricta may be linked to hair loss in men.
30 citations
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June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
77 citations
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April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
8 citations
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June 1981 in “Clinica Chimica Acta” Giant axonal neuropathy changes the structure of keratin in human hair, making it stiffer and stronger.
1 citations
,
September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
125 citations
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
March 2017 in “European Urology Supplements” Gene differences affect finasteride side effects in men with hair loss.