2 citations
,
July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
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.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
23 citations
,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
May 2018 in “KU ScholarWorks (The University of Kansas)” Targeting 5α-reductase type 1 may help manage Tourette-like symptoms.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
70 citations
,
December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
March 2010 in “European Journal of Cancer Supplements”
77 citations
,
April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
1 citations
,
July 2020 in “The Egyptian Journal of Hospital Medicine” The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
38 citations
,
February 2012 in “British Journal of Dermatology” AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
50 citations
,
February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” CT60 polymorphism might increase the risk of Alopecia Areata.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
4 citations
,
September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
May 2026 in “ACS Catalysis” Efficient enzyme function relies on specific residue interactions and structural coordination.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.