August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
15 citations
,
February 1999 in “The anatomical record” Some mutant mice have hair with abnormal cross-linking, mainly in the cuticle, not affecting other hair parts.
October 2023 in “Cell & bioscience” A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
69 citations
,
May 1997 in “Veterinary Pathology” The angora mouse mutation causes long hair and hair defects due to a gene deletion.
13 citations
,
April 2024 in “International Journal of Molecular Sciences” Loss of the Y chromosome in men is linked to health issues like heart disease and cancer.
48 citations
,
October 2004 in “Molecular and Cellular Biology” Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
July 2025 in “Journal of Investigative Dermatology” Miniaturized hair follicles in androgenetic alopecia show abnormal mitochondrial activity and damage.
23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
48 citations
,
December 2019 in “Reproductive Biology and Endocrinology” More research is needed to confirm sperm DNA fragmentation as a reliable tool for diagnosing male infertility.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
22 citations
,
May 2007 in “Molecular Biotechnology” 2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
6 citations
,
July 2005 in “Acta Ophthalmologica Scandinavica” Mitochondriopathy may cause eyelash loss.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
April 2011 in “Vestnik dermatologii i venerologii” Certain gene variations and irregular X chromosome activity may contribute to hair loss in women who can have children.
14 citations
,
April 2008 in “PROTEOMICS” Increased 14-3-3 proteins may block hair cycle regression, causing hair loss.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
53 citations
,
October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
33 citations
,
July 2007 in “Journal of cell science” Miz1 is essential for proper hair structure and growth.
15 citations
,
October 1999 in “PubMed” Understanding genes and mutations can lead to new treatments for hair loss disorders.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
4 citations
,
April 2002 in “Medical Hypotheses” Hormones cause hair loss by affecting cell growth and weakening cell attraction.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
11 citations
,
March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.