August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
CCC1 is essential for pH balance and normal cell function in plants.
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.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
3 citations
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July 2022 in “Stem Cell Research & Therapy” Turning off a specific gene in stem cells speeds up skin healing by helping cells move better.
February 2023 in “Default Digital Object Group”
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
7 citations
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January 2020 in “Frontiers in Pharmacology” Jagged1 and Epidermal Growth Factor together significantly increased hair growth in mice with androgen-suppressed hair.
1 citations
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January 2023 in “In vivo/In Vivo” Box A of HMGB1 can improve stem cell function, aiding anti-aging therapy.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.
138 citations
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December 1976 in “Journal of Biological Chemistry” The enzyme from human skin can cross-link proteins and needs calcium to work.
19 citations
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November 2012 in “Cell Communication and Signaling” FGF-9 speeds up the early development of certain organs, showing potential for organ regeneration.
2 citations
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
3 citations
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January 2023 in “American journal of physiology. Cell physiology” Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
January 2013 in “Frontiers in Immunology” Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
51 citations
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November 2011 in “British Journal of Dermatology” A gene called HDAC9 might be a new factor in male-pattern baldness.
January 2026 in “Frontiers in Molecular Biosciences” A new method helps diagnose alopecia areata using specific gene markers and could guide targeted treatments.
April 2023 in “Journal of Investigative Dermatology” Changing YBX1 protein activity affects skin stem cell function and aging.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
3 citations
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November 2024 in “Egyptian Journal of Medical Human Genetics” SGK1 is important in cancer growth and treatment resistance, and targeting it could improve therapies.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
57 citations
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January 2013 in “International Journal of Medical Sciences” Lef1 helps stem cells become hair cells by interacting with specific signaling pathways.
36 citations
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January 2021 in “Scientific Reports” Key genes and pathways, including Wnt, NF-Kappa, and JAK-STAT, are crucial for starting Pashmina fiber growth in goats.
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.
98 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
February 2022 in “Research Square (Research Square)” LGR5 is a marker found in hair follicle stem cells in various species and is important for hair growth and skin repair.