April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
January 2020 in “Medpulse International Journal of Medicine” Nail and hair changes are common in severe chronic kidney disease and should be treated to improve patients' quality of life.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
35 citations
,
September 2009 in “Development” Necl2 affects skin cell behavior and slows wound healing.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
219 citations
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July 1995 in “PubMed” Keratinocyte growth factor promotes hair growth and reduces hair loss from chemotherapy.
4 citations
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August 2022 in “Cells” lncRNA2919 slows down rabbit hair growth by stopping cell growth and causing cell death.
November 2025 in “The Journal of Immunology” BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
November 2023 in “Journal of Investigative Dermatology” Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
January 2025 in “International Journal of Molecular Sciences” Non-liganded Vitamin D Receptor is crucial for healthy skin and hair.
30 citations
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June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
August 2021 in “The Journal of Physiology” NKCC1 transporters help control neuron excitability and inhibition.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
34 citations
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July 2009 in “Journal of Cell Science” ΔNp63α helps control a protein that stops cancer cells from spreading.
April 2019 in “Journal of Investigative Dermatology” Removing REDD1 in mice increases skin fat by making fat cells larger and more numerous.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
January 2025 in “Repository of the Academy's Library (Library of the Hungarian Academy of Sciences)” Nucleic acids trigger chemokine production in skin cells, affecting skin inflammation.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Stress in hair follicle cells increases certain immune-related proteins, which might contribute to hair loss conditions.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” JAK inhibitors help hair growth by boosting beta-catenin activity in hair root cells.
6 citations
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January 2018 in “Dermato-endocrinology” Darkened knuckles can be an early sign of insulin resistance.
30 citations
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December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.