23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
11 citations
,
August 1987 in “Archives of Dermatology” Langerhans' cells are not involved in hair depigmentation in these mice.
January 2014 in “eScholarship (California Digital Library)” Lrig1 and Lgr6 stem cells help maintain hair follicles and influence skin cancer development.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
153 citations
,
June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
7 citations
,
November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
87 citations
,
September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
September 2025 in “Genes & Diseases” Lgr6+ cells are important for tissue repair and could be a target for treating cancer and other diseases.
19 citations
,
June 2020 in “BMC Cancer” Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
75 citations
,
June 2007 in “Journal of Biological Chemistry” MT-DADMe-ImmA can selectively kill head and neck cancer cells without harming normal cells.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
43 citations
,
February 1999 in “Biochemical Journal” Overexpression of SSAT in mice causes hair loss, liver damage, and sensitivity to polyamine analogues.
72 citations
,
July 2012 in “Journal of Investigative Dermatology” Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
1 citations
,
April 2015 in “InTech eBooks” RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
10 citations
,
May 2007 in “Oncology Reports” Colorectal cancer's ability to spread is due to changes in many genes, not just one.
174 citations
,
July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
91 citations
,
December 2019 in “The EMBO Journal” NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
October 2021 in “Postepy Dermatologii I Alergologii” No significant link was found between the studied genes and female hair loss in the Polish population.
April 2020 in “Research Square (Research Square)” Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.