January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
13 citations
,
January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
40 citations
,
September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
128 citations
,
December 2006 in “Journal of Biological Chemistry” Altering SSAT affects fat metabolism and body fat in mice.
42 citations
,
February 1996 in “Journal of Investigative Dermatology” Polyamines, especially spermidine, are essential for hair growth.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” Genetic screening can help diagnose and manage infertility in Slovenian couples.
30 citations
,
October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
1 citations
,
January 2024 in “Journal of the Egyptian Womenʼs Dermatologic Society” Routine eye exams may be needed for alopecia areata patients due to common eye issues.
August 2015 in “Dermatologica Sinica” Men with severe hair loss may have poorer sperm quality.
43 citations
,
November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
9 citations
,
July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
11 citations
,
November 1991 in “Journal of Neuropathology & Experimental Neurology” Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
September 2025 in “Toxicology” Long-term use of finasteride and minoxidil may harm male reproductive health in mice.
2 citations
,
August 2023 in “Journal of Endocrinological Investigation” Excess maternal androgens can cause heart problems in offspring.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
25 citations
,
May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
16 citations
,
December 2015 in “Journal of Investigative Dermatology” Alopecia areata involves persistent gene abnormalities and immune activity, even in regrown hair, suggesting a risk of relapse.
August 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” Finasteride, at doses of 5mg or higher, may negatively affect male fertility by reducing the expression of certain genes involved in sperm production.
38 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Understanding normal hair follicle development helps analyze abnormalities in mutant mice.
9 citations
,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
January 2019 in “Spectrum Research Repository (Concordia University)” Topiramate impairs gene transmission in zebrafish, while Ginkgo biloba reduces harmful effects of high β-catenin levels.
8 citations
,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
November 2024 in “Biochemical and Biophysical Research Communications” Abnormal gene expression related to keratin causes hair loss in certain mice.