June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
21 citations
,
January 2020 in “Brazilian Journal of Medical and Biological Research” H19 may help cause PCOS by affecting CTGF levels, suggesting a new treatment target.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
8 citations
,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
January 2025 in “Indian Dermatology Online Journal” Treatment reduced cystic lesions but didn't change existing Nevus Comedonicus.
March 2023 in “Pediatrics & neonatology” A baby girl had two brain-related growths removed and is developing normally.
87 citations
,
July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
48 citations
,
August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
1 citations
,
July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
1 citations
,
January 2019 in “Dermatology Online Journal” A rare skin condition appeared on a 19-year-old woman's scalp.
3 citations
,
October 2019 in “EMBO molecular medicine” Targeting NCoR1 can help treat heart enlargement and dysfunction.
3 citations
,
December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
99 citations
,
July 2017 in “Clinical Reviews in Allergy & Immunology” New treatments for Alopecia Areata show promise but need to be more effective and affordable.
87 citations
,
March 2011 in “Australasian Journal of Dermatology” Genetics and hormones play a role in male and female hair loss, but more research is needed to fully understand it.
29 citations
,
January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
1 citations
,
April 2025 in “Romanian Journal of Ophthalmology” Minoxidil might cause eye issues, so early detection is important.
December 2024 in “European journal of medical research” 8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
40 citations
,
August 2010 in “Archives of dermatology” A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
9 citations
,
September 2015 in “Reproductive Biomedicine Online” Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
1 citations
,
May 2007 in “Chinese Medical Journal” Complete removal of large scalp nevi is recommended to prevent complications.