December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
291 citations
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April 2010 in “Gastroenterology” Certain proteins, Lgr5 and Lgr6, are important markers of adult stem cells and are involved in tissue repair and cancer development.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
1 citations
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October 2010 in “2010 3rd International Conference on Biomedical Engineering and Informatics” The LEF-1 gene in cashmere goats was successfully cloned and analyzed, showing potential for improving cashmere production.
May 2022 in “The FASEB Journal” Finasteride may help treat Neutrophil Actin Dysfunction by reducing LSP1 gene activity.
3 citations
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February 2019 in “Animal biotechnology” The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
44 citations
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November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Researchers made a detailed map of gene activity for different parts of human hair follicles to help create targeted hair disorder treatments.
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.
1 citations
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June 2012 in “OhioLink ETD Center (Ohio Library and Information Network)” A new 3-D bioreactor system improves drug screening and reduces animal testing.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
May 2026 in “Microchemical Journal”
March 2023 in “Scientific reports” Hair growth-related cells need the enzyme SCD1 to help maintain the area that supports hair growth.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
13 citations
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November 2017 in “Neurotoxicity research/Neurotoxicity resarch” Sodium metabisulfite increases sodium channel activity, leading to higher cell excitability and potential damage.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
91 citations
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December 2019 in “The EMBO Journal” NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
July 2024 in “New Phytologist” PDF2 senses specific lipids and regulates root growth and gene expression in Arabidopsis.
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
26 citations
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December 1990 in “Journal of Biological Chemistry” Two specific genes are more active during hair growth in mice.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
April 2024 in “Journal of pharmacy & pharmacognosy research” A compound from Calophyllum inophyllum L. leaf may help treat non-small cell lung cancer.
1 citations
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October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.