10 citations
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August 2020 in “Drug metabolism and drug interactions” The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
7 citations
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September 2022 in “International journal of molecular sciences” The research found that the molecule lncRNA-H19 helps hair follicle cells grow by affecting certain cell pathways in cashmere goats.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
91 citations
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
11 citations
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
99 citations
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July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
51 citations
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December 2006 in “Mammalian Genome”
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
36 citations
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March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
April 2015 in “The FASEB Journal” Nitrogen mustard causes DNA damage and structural changes in mouse skin hair follicles, but some recovery occurs after 5 days.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
135 citations
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May 1994 in “Medical Entomology and Zoology” Mouse models help study genetic skin diseases.
April 2018 in “Journal of Investigative Dermatology” The research found that blocking a gene called NEMO can potentially prevent harmful effects of aging at the cellular level.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
1 citations
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October 2020 in “Research Square (Research Square)” A genetic variant in goats is linked to cashmere growth.
37 citations
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January 2006 in “Carcinogenesis” Antizyme slows skin tumor growth by reducing cell growth in mice.
28 citations
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June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
80 citations
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June 1997 in “The American Journal of Human Genetics” 1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The fer-ts mutation in plants prevents root hair growth at high temperatures.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
37 citations
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February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
23 citations
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August 1975 in “Experimental Biology and Medicine” Copper supplements during pregnancy improve survival and development in mutant mice.
14 citations
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August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.