19 citations
,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
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.
29 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
53 citations
,
May 1988 in “Journal of Molecular Evolution”
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
9 citations
,
August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
28 citations
,
June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
28 citations
,
March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
91 citations
,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
March 2007 in “Journal of Cell Science” K10 may not prevent tumors as previously thought and might increase benign tumor risk.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
35 citations
,
October 2002 in “Biochemical and Biophysical Research Communications” The research cloned keratin 7 genes from humans, mice, and marsupials, found similarities between human and mouse genes, and discovered new areas of K7 expression in mice.
9 citations
,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
January 2002 in “映像情報メディア学会技術報告” Some prostate cancers have gene changes that may affect treatment with certain drugs.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.
25 citations
,
September 1995 in “Biochemistry and Cell Biology” High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
1 citations
,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.