Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
February 2026 in “Pediatric Dermatology” 82 citations
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July 2012 in “Brain pathology” High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
13 citations
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June 2014 in “Molecular therapy” The lentiviral array can monitor and predict gene activity during stem cell differentiation.
2 citations
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February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
6 citations
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December 2021 in “Journal of Clinical Medicine” LiPADI is a useful tool for monitoring the severity and treatment of lichen planus.
September 2024 in “Genes” CRABP1 boosts hair cell growth in Hu sheep by affecting key genes.
3 citations
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April 2023 in “Veterinary sciences” Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
April 2018 in “Journal of Investigative Dermatology” Macrophages are more involved in Lichen planopilaris than in Frontal fibrosing alopecia.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
January 2015 in “OpenBU/Boston University Institutional Repository (Boston University)” Neuropilin 2 may be a biomarker for melanoma and affects melanocyte behavior.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
April 2017 in “Journal of Investigative Dermatology” Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
54 citations
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December 2014 in “Wound Repair and Regeneration” PRP injections may improve hair thickness and density in female hair loss patients.
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
4 citations
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April 2021 in “Frontiers in Immunology” Different types of RNAs are found in varying amounts in patients with Polycystic Ovary Syndrome, suggesting they could be important in the disease's development and potentially used as disease markers.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
4 citations
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March 2018 in “Animal biotechnology” The LAMTOR3 gene is involved in cashmere goat hair growth and is affected by certain treatments and other genes.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
39 citations
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March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” GLI2 increases follistatin production in human skin cells.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
18 citations
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July 2016 in “Genetica” BMP4 gene is crucial for hair follicle development in Liaoning cashmere goats.
5 citations
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August 2001 in “International Journal of Dermatology” A 20-year-old had hair loss and skin issues from lichen planopilaris starting at age 10.
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.
December 2023 in “Journal of General Procedural Dermatology and Venereology Indonesia” A 61-year-old Filipino man had a skin condition that looked like another disease, making diagnosis difficult.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.