175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
4 citations
,
September 2020 in “Cell division” XMU-MP-1 stops cell growth in a human mini-organ and reduces the effectiveness of the chemotherapy drug paclitaxel.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
14 citations
,
August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
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.
January 2017 in “Clinical & medical biochemistry” Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
May 2026 in “International Journal of Molecular Sciences” The new human placental extract may help prevent hair graying and reduce nerve pain from chemotherapy.
30 citations
,
February 2021 in “Journal of Medical Virology” TMPRSS2 affects COVID-19 severity and treatment options.
133 citations
,
May 2016 in “Cell Host & Microbe” Human dermal fibroblasts are the main cells targeted by a virus that can cause a deadly skin cancer, and a certain inhibitor can effectively block this infection.
106 citations
,
March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
28 citations
,
January 2012 in “Biological & pharmaceutical bulletin” Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
72 citations
,
June 2001 in “Journal of Investigative Dermatology” S100A4 and S100A6 proteins may activate stem cells for hair follicle regeneration and could be potential targets for hair loss treatments.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
11 citations
,
March 2014 in “Journal of The European Academy of Dermatology and Venereology” Hair loss gene linked to prostate issues.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
April 2016 in “Journal of Investigative Dermatology” CD73 may regulate hair growth and could be targeted for hair growth treatments.
38 citations
,
March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
November 2022 in “Annals of Translational Medicine” Immune activities and specific genes are important in male pattern baldness.
12 citations
,
February 2023 in “Stem Cell Research & Therapy” HGF-modified hair follicle stem cells help brain recovery after injury in rats.
24 citations
,
April 2017 in “Oncology Reports” The hair keratin gene KRT81 is found in both normal and breast cancer cells and helps them invade surrounding tissues.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
13 citations
,
January 2013 in “Applied and Environmental Microbiology” A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
June 2023 in “Research Square (Research Square)” A higher genetic risk score increases the chance of getting benign prostatic hyperplasia and affects treatment outcomes in Han Chinese men.
72 citations
,
January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.