32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
January 2026 in “Pediatrics International” Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
13 citations
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November 2018 in “Animal Genetics” A new gene variant causes curly coats in some dog breeds.
13 citations
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December 2024 in “Cellular and Molecular Life Sciences” Caspases do more than kill cells; they also help in cell growth and disease, and targeting them could lead to new treatments.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
RCVS should be considered in thunderclap headaches, and MRA and DSA are better for diagnosis than CT angiogram.
December 1981 in “ビジネスコミュニケ-ション” TRPV1 affects sebaceous gland function and could help treat acne.
14 citations
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
34 citations
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August 2012 in “Calcified Tissue International”
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September 2017 in “Journal of Investigative Dermatology” CXXC5 is a protein that prevents hair growth and could be a target for hair loss treatment.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
A new imaging method helps see and study touch nerve endings in mouse skin.
59 citations
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July 2015 in “Journal of Immunology” Certain proteins, caspases-1 and -11, are important in the early development of skin inflammation in mice.
5 citations
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May 2023 in “Frontiers in Cell and Developmental Biology” Integrin α6 helps identify different neural crest cell types in the skin.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
4 citations
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September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
19 citations
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January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
15 citations
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September 2018 in “Frontiers in Plant Science” BcFLA1 protein is crucial for root hair growth in response to low phosphate in Brassica carinata.
324 citations
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May 2002 in “Oncogene” 40 citations
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March 1991 in “Journal of Investigative Dermatology”
November 2022 in “Journal of Investigative Dermatology” Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.
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April 2022 in “PLoS ONE” Vibration treatment may reduce migraine pain by changing cell structures.
24 citations
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March 2008 in “Neuroscience Research” Cat paws have complex touch sensors for detailed sensory processing.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.