37 citations
,
February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
6 citations
,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
April 2018 in “Journal of Investigative Dermatology” STIM1 is essential for sweat secretion.
56 citations
,
February 2012 in “Developmental biology” Sostdc1 controls the size and number of hair and mammary gland structures.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
8 citations
,
March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
March 2025 in “Laboratory Investigation” MESTSV is a rare tumor that is mostly benign but needs long-term monitoring due to potential recurrence.
111 citations
,
August 2002 in “Journal of Medicinal Chemistry” New compounds were made that block an enzyme linked to breast cancer better than existing treatments.
1 citations
,
February 1991 in “Journal of Biological Chemistry”
25 citations
,
May 2003 in “Expert Opinion on Therapeutic Patents” Steroid Sulfatase inhibitors show promise in treating hormone-dependent disorders like cancers, hair loss, and acne, with 667COUMATE being a potential candidate for breast cancer treatment trials.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
3 citations
,
January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
11 citations
,
February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
12 citations
,
June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
6 citations
,
January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
April 2024 in “Pigment cell & melanoma research” Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
124 citations
,
July 1997 in “Journal of Biological Chemistry” Overexpressing a specific enzyme in mice causes hair loss and female infertility.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
2 citations
,
February 2025 in “Poultry Science” TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
3 citations
,
April 2022 in “Frontiers in Physiology” Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.