1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
1 citations
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April 2023 in “International Journal of Molecular Sciences” New CRISPR/Cas9 variants and nanotechnology-based delivery methods are improving cancer treatment, but choosing the best variant and overcoming certain limitations remain challenges.
March 2026 in “Bioconjugate Chemistry” Peptide-based PROTACs show promise in targeting hard-to-treat proteins, especially for cancer therapy.
January 2026 in “International Journal of Molecular Sciences” Topical peptides may offer safer, effective pain relief and healing for wounds.
October 2023 in “IntechOpen eBooks” Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
July 2023 in “New phytologist” The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
January 2026 in “Preprints.org” Four new FGF5 gene variants cause long hair in dogs.
489 citations
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November 2021 in “Signal Transduction and Targeted Therapy” The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
122 citations
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January 2006 in “Molecular & Cellular Proteomics” Human hair contains many proteins, with some being highly abundant and modified.
119 citations
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August 2008 in “BMC Evolutionary Biology” KRTAP genes evolved early in mammals, leading to diverse hair traits.
101 citations
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November 2019 in “The Plant Cell” AtZP1 protein stops root hair growth in plants by blocking certain genes.
101 citations
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September 2006 in “Journal of Biological Chemistry” Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
93 citations
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July 2006 in “Journal of Investigative Dermatology” K25, K27, and K28 are found in all inner root sheath layers of hair, while K26 is only in the cuticle.
84 citations
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April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
83 citations
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January 2023 in “Development” Hox genes are crucial for development and tissue maintenance, affecting structures and functions throughout life.
71 citations
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
56 citations
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September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
49 citations
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July 2000 in “Journal of Histochemistry & Cytochemistry” POMC-derived peptides are important for skin functions like immune response and stress management.
48 citations
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December 2022 in “Biomolecules” 3D bioprinting shows promise for creating advanced skin for healing wounds and reducing animal testing.
47 citations
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June 2017 in “The FEBS journal” Disabling the FGF5 gene in sheep leads to longer wool.
46 citations
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December 1998 in “Journal of Biological Chemistry” Keratin 19 forms less stable and shorter filaments than keratin 14, giving unique traits to certain skin cells.
44 citations
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January 2023 in “New Phytologist” FER and TOR signaling help root hair growth in low temperature and low nitrate conditions.
40 citations
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
37 citations
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July 2002 in “Archives of Pathology & Laboratory Medicine” Tyrosinase and gp100 proteins can help diagnose and treat melanoma.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.