14 citations
,
February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
10 citations
,
January 2016 in “Dermatology” People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
21 citations
,
February 2006 in “Clinical Cancer Research” Mitf plays a key role in melanoma progression and is linked to disease stage.
11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
20 citations
,
July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
6 citations
,
April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
13 citations
,
March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
17 citations
,
August 2015 in “Journal of Animal Science” The MTR gene affects wool quality and production in Chinese Merino sheep.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
October 2020 in “Stem cells” The document concludes that DNA methylation and the mTOR pathway are important for stem cell function and could impact disease treatment.
July 2025 in “Journal of Investigative Dermatology” BrdU speeds up hair follicle aging and reduces hair quality.
CMV infection increases the risk of GvHD after bone marrow transplants.
18 citations
,
February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
20 citations
,
March 2021 in “Cancers” Certain genetic variants increase the risk of aggressive prostate cancer.
January 2014 in “Pathology” RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
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.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
March 2025 in “Laboratory Investigation” Mesothelioma of the tunica vaginalis testis is rare, often high-grade, and has a median survival of about 24 months.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
3 citations
,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
48 citations
,
June 2000 in “Japanese Journal of Cancer Research” Dimethylarsinic acid speeds up skin tumor growth in certain mice.
4 citations
,
January 2023 in “Frontiers in Immunology” Shorter telomeres in white blood cells may increase the risk of a common type of hair loss.