February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
20 citations
,
July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
PCOS involves genetic and immune factors, especially T cells, affecting its development.
32 citations
,
August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
January 2025 in “Iraqi Journal of Science” PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
96 citations
,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
April 2024 in “Anais Brasileiros de Dermatologia”
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
1 citations
,
January 2023 in “Frontiers in genetics” Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.
17 citations
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August 2015 in “Journal of Animal Science” The MTR gene affects wool quality and production in Chinese Merino sheep.
January 2023 in “International Journal of Zoological Investigations” Certain genetic variations in IL-16 may increase the risk of alopecia areata.
1 citations
,
January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
26 citations
,
May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
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.
January 2025 in “Kuwait Journal of Science” KRT71 gene variants may influence camel hair shape but don't fully explain it.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
31 citations
,
September 1999 in “Molecular Carcinogenesis” Increased ornithine decarboxylase makes normally tumor-resistant mice more sensitive to tumors.
Dual TCR Treg cells are common in various mouse tissues and show diverse characteristics.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” The KRTAP15-1 gene affects cashmere fiber thickness in goats.
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
8 citations
,
April 2016 in “Experimental Dermatology” The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
2 citations
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November 2006 in “Pump Industry Analyst” Pilomatricomas don't follow the usual hair follicle cell differentiation process.