5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
16 citations
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February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
49 citations
,
October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
15 citations
,
April 2003 in “Journal of Dermatological Science” Gene differences may affect baldness treatment response in Korean men.
42 citations
,
July 2013 in “Gene” IL-4 gene variation may increase the risk of alopecia areata in Turkish people.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
16 citations
,
January 2012 in “European Journal of Endocrinology” The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
8 citations
,
September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
24 citations
,
December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
September 2009 in “Encyclopedia of Life Sciences” The KRTAP gene family helps understand hair evolution and hair disorders.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
February 2010 in “Journal of the American Academy of Dermatology” Activating cAMP and ATP improves hair growth and strength.
52 citations
,
May 1997 in “Journal of Biological Chemistry” High ornithine decarboxylase levels may lead to hair loss and cancer by increasing CK2 activity in the nucleus.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
6 citations
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June 2019 in “International Journal of Dermatology” Frontal fibrosing alopecia has occurred in two related male families.
October 2013 in “DOAJ (DOAJ: Directory of Open Access Journals)”