April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
6 citations
,
February 2024 in “Pharmaceutics” ELIP-based CRISPR delivery improves heart disease gene editing but needs more testing.
March 2021 in “Research Square (Research Square)” The SbbHLH85 protein helps sweet sorghum grow more root hairs but makes the plant more sensitive to salt.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
67 citations
,
August 2007 in “American Journal of Pathology” Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
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.
4 citations
,
August 2006 in “The Journal of Dermatology” HLA can be linked to autoimmune hepatitis.
1 citations
,
August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
7 citations
,
August 2017 in “PloS one” Key genes linked to hair growth and cancer were identified in hairless mice.
August 2016 in “Journal of Investigative Dermatology” Blocking the CCR5 receptor may be a new way to treat hair loss from alopecia areata.
Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.
January 2021 in “Medical Research Archives” Genetically modified rats help reveal how vitamin D affects bone and skin health.
21 citations
,
October 2013 in “Molecular Biology of the Cell” The protein CCN2 controls hair growth by affecting hair follicle formation and stem cell activity in mice.
June 1996 in “Journal of Dermatological Science” 3 citations
,
November 2011 in “Small GTPases” Researchers found that hair follicle stem cells can become squamous cell carcinoma due to Ras activation, which could lead to new treatments.
35 citations
,
May 1986 in “Clinics in endocrinology and metabolism” The exact cause of increased 5α-reductase activity leading to hirsutism in women is still unknown.
62 citations
,
January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
January 2009 in “China Practical Medicine” Certain genes help dermal papillae cells in hair follicles grow and group together.
45 citations
,
March 2001 in “Journal of Investigative Dermatology” A new protein, mK6irs, is found in specific hair layers and may help understand hair growth and diseases.
July 2002 in “Science s STKE” Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
106 citations
,
June 2009 in “BMC Genomics” Sea cucumbers have unique genes that help them regenerate their intestines.
15 citations
,
December 2021 in “Pharmaceutics” The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
31 citations
,
October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
29 citations
,
October 2010 in “Journal of Investigative Dermatology” Activating Kras in mouse skin causes excess skin and hair loss.
January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.