188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
8 citations
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March 2023 in “International Wound Journal” IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
3 citations
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April 2022 in “Frontiers in Physiology” Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
1 citations
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June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
59 citations
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November 2011 in “Development” Trps1 is essential for proper hair follicle development.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
16 citations
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February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
122 citations
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July 1994 in “Journal of Investigative Dermatology” 43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
November 2025 in “The Journal of Immunology” BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
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.
69 citations
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December 2015 in “BMC plant biology” Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
November 2022 in “Journal of Investigative Dermatology” Low oxygen levels affect the behavior of certain proteins in human skin cells.
9 citations
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April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
29 citations
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January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
14 citations
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
26 citations
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September 2001 in “Journal of Investigative Dermatology” BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
2 citations
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May 2022 in “The journal of immunology/The Journal of immunology” BST2 protein and certain T cells increase in early alopecia areata.
January 2008 in “Vestnik Tomskogo gosudarstvennogo universiteta Filologiya” Overexpressing the Tβ4 gene in goats can increase cashmere production.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.