43 citations
,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
August 2019 in “Research Square (Research Square)” Certain long non-coding RNAs in cashmere goats affect hair growth when treated with a specific growth factor.
30 citations
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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.
1 citations
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August 2022 in “Pigment Cell & Melanoma Research” New mouse models help study melanocytic cells for melanoma research.
36 citations
,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
58 citations
,
July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
6 citations
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February 2022 in “The journal of neuroscience/The Journal of neuroscience” Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
5 citations
,
September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
3 citations
,
October 2024 in “Animals” An allele of the KRTAP13-2 gene may improve wool quality in sheep.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
12 citations
,
June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
12 citations
,
February 1998 in “Gene” The B2 genes are crucial for hair growth in rats.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
11 citations
,
November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
April 2023 in “Journal of Investigative Dermatology” PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
39 citations
,
September 2007 in “BMC developmental biology” Neuregulin3 affects cell development in the skin and mammary glands.
19 citations
,
January 2013 in “International journal of medical sciences” Increasing Wnt5a in mice skin delays hair growth but doesn't stop it.
41 citations
,
October 2008 in “The American journal of pathology” Blocking a specific protein signal can make hair grow on mouse nipples.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
6 citations
,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
4 citations
,
May 2024 in “Cytotechnology” 100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
August 2025 in “BMC Genomics” Certain genes contribute to stronger hooves in barefoot racing horses.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The research provided new insights into the genetic factors contributing to hair loss and skin conditions by analyzing individual cells from the human scalp.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
Knocking out the FGF5 gene in sheep increased wool production and hair-follicle density.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.