January 2016 in “Texas ScholarWorks (Texas Digital Library)” DORN1 receptor affects eATP-induced stomatal changes but not eADP in Arabidopsis thaliana.
8 citations
,
October 2022 in “International Journal of Molecular Sciences” Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.
48 citations
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September 2020 in “Frontiers in Immunology” Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
July 2024 in “Journal of Investigative Dermatology” Inhibiting PDE8A may help treat hair loss by boosting fat cell growth and hair regeneration.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
13 citations
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September 2012 in “Cell & tissue research/Cell and tissue research” pCLCA2 protein may help maintain skin structure and function.
5 citations
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May 2020 in “Life science alliance” Removing integrin α3β1 from hair stem cells lowers skin tumor growth by affecting CCN2 protein levels.
77 citations
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February 2017 in “Stem Cell Reports” SHISA6 helps maintain certain stem cells in mouse testes by blocking signals that would otherwise cause them to differentiate.
29 citations
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December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
1 citations
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August 2023 in “Genome research” The spiny mouse regenerates ear tissue asymmetrically, with gene expression differences possibly explaining its unique healing abilities.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
5 citations
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October 2024 in “Reumatismo” Upadacitinib significantly improved alopecia universalis and psoriatic arthritis in a patient.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
6 citations
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January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
52 citations
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January 2003 in “Journal of Investigative Dermatology” Thrombospondin-1 is crucial for hair follicle regression and reduced blood vessel growth during the catagen phase.
51 citations
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February 2004 in “Journal of Investigative Dermatology” MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
1 citations
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April 2017 in “Journal of Investigative Dermatology” CCL5 is important for the hair growth potential of human dermal papilla cells.
30 citations
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October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
60 citations
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August 2005 in “Endocrinology” αMSH may help regulate immune responses in hair follicles and its disruption could lead to hair loss.
9 citations
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July 2022 in “Cell reports” Sox2 controls hair color by affecting pigment production in hair follicles.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
1 citations
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September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
January 2010 in “Journal of Animal Science” Transcutaneous vaccination using nanoparticles can enhance immune responses and reduce basal cell carcinomas.
January 2016 in “Journal of Investigative Dermatology” Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.
146 citations
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May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.