1 citations
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November 2024 in “Orphanet Journal of Rare Diseases” Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
14 citations
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August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
324 citations
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May 2002 in “Oncogene”
30 citations
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March 2019 in “Archives animal breeding/Archiv für Tierzucht” The KRTAP15-1 gene affects cashmere fiber thickness in goats.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
2 citations
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July 2022 in “Frontiers in Medicine” The cause of Frontal fibrosing alopecia, a type of hair loss, is complex, likely involving immune responses and genetics, but is not fully understood.
1 citations
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August 2016 in “Dermatology - Open Journal” Mitochondria change shape to meet energy needs during cell movement.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
March 2026 in “Wound Repair and Regeneration” MARCKSL1 is important for wound healing and could be a target to reduce scarring.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
34 citations
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August 1966 in “Experimental cell research” Keratin fibrils in hair form and stop growing at specific points in the follicle.
1 citations
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July 2024 in “Journal of Investigative Dermatology” MPZL3 protein affects hair growth cycles and could help manage hair loss.
23 citations
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April 2003 in “Journal of Structural Biology” Keratin structure changes during keratinization, but the exact model remains uncertain.
165 citations
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January 2006 in “Molecular Medicine” Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.
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.
26 citations
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June 2010 in “Electrophoresis” New techniques helped identify rare wool proteins by reducing dominant ones.
6 citations
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June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
10 citations
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January 2001 in “Bioscience Biotechnology and Biochemistry” Ubiquitin, a protein, is found in hair, nails, and skin.
76 citations
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May 2011 in “Cell death and differentiation” A20 protein is crucial for normal skin and hair development.
54 citations
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December 1999 in “Journal of Investigative Dermatology Symposium Proceedings” 2 citations
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April 2023 in “American Journal of Dermatopathology” CCCA may involve the PD1/PDL1 pathway and increased caspase 3, leading to permanent hair loss.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
138 citations
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November 1977 in “Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics”