3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
4 citations
,
January 2019 in “Journal of cutaneous pathology” The mTOR pathway may be involved in the development of hair follicle tumors, with higher activity in malignant tumors.
5 citations
,
May 2020 in “Life science alliance” Removing integrin α3β1 from hair stem cells lowers skin tumor growth by affecting CCN2 protein levels.
16 citations
,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
A specific gene change in APCDD1 increases the risk of hair loss.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
28 citations
,
January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
August 2013 in “Nature Reviews Drug Discovery” New treatments may restore cancer-blocking proteins, slow prostate cancer, identify drug targets, and potentially regrow hair.
July 2017 in “Cancer Research” Krt15+ cells in mice can resist radiation, regenerate tissue, and start tumors, suggesting new cancer treatment targets.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
4 citations
,
March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
153 citations
,
April 1998 in “Current Biology” The risk of skin tumors becoming malignant depends on the specific skin cell type affected.
6 citations
,
January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
18 citations
,
September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
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.
54 citations
,
May 2001 in “Journal of Investigative Dermatology” Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
8 citations
,
June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
2 citations
,
January 2018 in “Open journal of stomatology” Tongue cancer cells show more plectin-1 than non-cancer cells, but both have similar levels of trichohyalin.
211 citations
,
February 1994 in “Proceedings of the National Academy of Sciences” Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.
91 citations
,
July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
150 citations
,
June 1999 in “Oncogene” 70 citations
,
December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.