October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences” The CTLA-4 gene polymorphism does not affect polycystic ovarian syndrome.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
KY19382 helps to regrow hair and create new hair follicles.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
24 citations
,
March 2016 in “Journal of Investigative Dermatology” TIP39 and PTH2R help control calcium levels and skin cell development.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
101 citations
,
October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
2 citations
,
January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
26 citations
,
February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
124 citations
,
December 2016 in “Pharmaceuticals” TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
29 citations
,
January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
4 citations
,
April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
10 citations
,
February 2013 in “British Journal of Dermatology” Thyrotropin-releasing hormone may help control skin and hair growth and could aid in treating related disorders.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
19 citations
,
November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
19 citations
,
September 1971 in “Journal of Investigative Dermatology” 6 citations
,
November 2022 in “Antioxidants” OR2AT4 helps reduce aging and cell damage in human skin cells.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
66 citations
,
April 1995 in “The journal of cell biology/The Journal of cell biology” A new protein was made to detect specific skin cell growth receptors and worked in normal skin but not in skin cancer cells.
August 2024 in “Plant Signaling & Behavior” OsPRX83 helps rice survive stress by improving stress response and antioxidant activity.
2 citations
,
January 1997 in “Mapping” Gambogic Amide may prevent hair greying and promote hair growth by maintaining hair pigmentation.
19 citations
,
May 2001 in “Endocrinology” Mrp3 may aid in wound healing and hair growth.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
14 citations
,
August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
37 citations
,
January 1993 in “Journal of Investigative Dermatology”