29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
1 citations
,
January 2020 in “Research Square (Research Square)” Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
412 citations
,
January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
19 citations
,
September 2008 in “Journal of Cellular Physiology” Blocking EGFR can cause skin inflammation by disrupting IL-1 signaling.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
56 citations
,
March 2015 in “Cell death and differentiation” Older skin has higher cancer risk due to inflammation and stem cell issues.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
August 2023 in “Research Square (Research Square)” Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
252 citations
,
November 1995 in “The EMBO Journal” Blocking EGFR in mice causes hair loss and skin changes.
10 citations
,
May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
12 citations
,
August 2019 in “BMC Medical Genetics” Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
14 citations
,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
6 citations
,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
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.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
10 citations
,
January 2019 in “Advances in Clinical and Experimental Medicine” Certain variations in the vitamin D receptor gene are linked to an increased risk of polycystic ovary syndrome.
106 citations
,
March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
June 2015 in “OhioLink ETD Center (Ohio Library and Information Network)” UVB exposure affects retinoid metabolism, which is important for skin cancer progression and treatment.
85 citations
,
July 2002 in “Pigment Cell Research” The article concludes that while we understand a lot about how melanocytes age and how this can prevent cancer, there are still unanswered questions about certain pathways and genes involved.
50 citations
,
July 1996 in “Cell” Chromosomal changes, including those in the WRN gene and rDNA, may significantly contribute to aging.
January 2026 in “Journal of Clinical Medicine” Improving diet and lifestyle can help manage skin conditions linked to insulin resistance and inflammation.
26 citations
,
December 1990 in “Journal of Biological Chemistry” Two specific genes are more active during hair growth in mice.
50 citations
,
April 2014 in “Nature Communications” The research identified new skin traits in mice, some linked to human skin conditions.