6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
22 citations
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August 1999 in “Mechanisms of Development” Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
17 citations
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July 2022 in “BMC Genomics” The FA2H gene improves cashmere fineness by enhancing hair growth in goats.
April 2025 in “Australasian Journal of Dermatology” Daughters with affected mothers may develop frontal fibrosing alopecia early.
3 citations
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June 2021 in “Frontiers in genetics” The protein STAT3 slows down cell growth by blocking the FST gene, which affects hair development in sheep.
25 citations
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September 2014 in “SpringerPlus” Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
14 citations
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July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
January 2026 in “Frontiers in Microbiology” Enterococcus faecium broth may slow aging and improve health by boosting immunity and gut bacteria.
January 2009 in “Xumu shouyi xuebao” Sheep cells were successfully modified to include a spider silk protein gene.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
4 citations
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September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
46 citations
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December 2001 in “Journal of Endocrinology/Journal of endocrinology” FLRG and follistatin have different roles in wound healing.
February 2023 in “Default Digital Object Group”
January 2024 in “Frontiers in plant science” The zinc finger protein 3 in Arabidopsis thaliana reduces plant growth and root hair development.
10 citations
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May 2021 in “Frontiers in Plant Science” OsRopGEF3 is crucial for rice root hair growth and ROS production.
26 citations
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January 2011 in “Open Journal of Genetics” The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
3 citations
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.