April 2023 in “Journal of Investigative Dermatology” SOX2 helps reduce wound size and pressure ulcer formation by suppressing oxidative stress and increasing antioxidant activity in mice.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
17 citations
,
October 2003 in “Brazilian Journal of Medical and Biological Research” The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
March 2018 in “Suez Canal University Medical Journal” NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
45 citations
,
July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
21 citations
,
October 2017 in “Cell death and disease” Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
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.
14 citations
,
October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
2 citations
,
February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
June 2024 in “Archives of Dermatological Research” SFRP2 and PTGDS may be key factors in female hair loss.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
51 citations
,
January 2007 in “Animal Genetics” The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
35 citations
,
March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” SRD5A2 gene variations affect PTSD symptoms differently in males and females.
2 citations
,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
13 citations
,
March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.