January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
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.
August 2019 in “International journal of dermatology and venereology” The calcineurin/NFAT pathway plays a significant role in the development and growth of a type of skin cancer called cutaneous squamous cell carcinoma.
118 citations
,
August 2010 in “Developmental Cell” MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
24 citations
,
March 2017 in “Archives of Gynecology and Obstetrics” The study found that women with hyperandrogenic PCOS have higher levels of AKT1 and AKT2 proteins in their cells, which may lead to cell dysfunction.
2 citations
,
August 2023 in “Autophagy” Autophagy helps control skin inflammation and cancer responses and regulates hair growth by affecting stem cell activity.
80 citations
,
June 1997 in “The American Journal of Human Genetics”
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
9 citations
,
August 2021 in “International journal of molecular sciences” PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
11 citations
,
May 2018 in “Frontiers in plant science” Arabidopsis PCaP2 helps plants survive drought by linking ABA and SA signals.
54 citations
,
October 2023 in “Oncogene” p63 is essential for controlling epithelial stem cells and tissue health.
20 citations
,
December 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Decreased CD200 in hair follicles may cause immune issues in some alopecia areata cases.
4 citations
,
February 2024 in “Anais Brasileiros de Dermatologia” August 2024 in “JAAD Case Reports” Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
January 2024 in “Circulation” Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.
106 citations
,
October 2016 in “Cell Stem Cell” PDGFA/AKT signaling is important for the growth and maintenance of certain skin fat cells.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
5 citations
,
October 2024 in “Reumatismo” Upadacitinib significantly improved alopecia universalis and psoriatic arthritis in a patient.
9 citations
,
July 2007 in “Journal of Investigative Dermatology” Claudin expression changes help the skin respond to injury.
16 citations
,
March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
26 citations
,
April 1996 in “Journal of Investigative Dermatology”
September 2025 in “PubMed” Colectomy led to hair regrowth in a Crohn's patient with alopecia areata.
19 citations
,
September 2021 in “British journal of dermatology/British journal of dermatology, Supplement” Activating PPAR-γ signalling can protect hair follicle stem cells from damage caused by chemotherapy.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
Blocking CXCR4 may help treat hidradenitis suppurativa.
November 2025 in “Journal of Investigative Dermatology” Dark skin has stronger barriers and structure due to specific gene activity.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
1 citations
,
July 2018 in “Journal of The American Academy of Dermatology” Sebaceous glands are often preserved and PPARy expression is constant in some cases of Central Centrifugal Cicatricial Alopecia.