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000600684 1001_ $$0P:(DE-HGF)0$$aPolubothu, Satyamaanasa$$b0
000600684 245__ $$aPTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma
000600684 260__ $$aAmsterdam$$bElsevier$$c2023
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000600684 520__ $$aPhakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem involvement, including CNS disease, asymmetrical growth, and a predisposition to malignancy. Using a tight phenotypic group and high-depth next-generation sequencing of affected tissues, we discover here clonal mosaic variants in gene PTPN11 encoding SHP2 phosphatase as a cause of phakomatosis pigmentovascularis type III or spilorosea. Within an individual, the same variant is found in distinct pigmentary and vascular birthmarks and is undetectable in blood. We go on to show that the same variants can cause either the pigmentary or vascular phenotypes alone, and drive melanoma development within pigmentary lesions. Protein structure modeling highlights that although variants lead to loss of function at the level of the phosphatase domain, resultant conformational changes promote longer ligand binding. In vitro modeling of the missense variants confirms downstream MAPK pathway overactivation and widespread disruption of human endothelial cell angiogenesis. Importantly, patients with PTPN11 mosaicism theoretically risk passing on the variant to their children as the germline RASopathy Noonan syndrome with lentigines. These findings improve our understanding of the pathogenesis and biology of nevus spilus and capillary malformation syndromes, paving the way for better clinical management. 
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000600684 536__ $$0G:(EU-Grant)648489$$aZF-MEL-CHEMBIO - Chemical Biology in Zebrafish: Drug-Leads and New Targets in the Melanocyte Lineage and Melanoma (648489)$$c648489$$fERC-2014-CoG$$x1
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000600684 7001_ $$0P:(DE-HGF)0$$aBender, Nicole$$b1
000600684 7001_ $$0P:(DE-HGF)0$$aMuthiah, Siobhan$$b2
000600684 7001_ $$0P:(DE-HGF)0$$aZecchin, Davide$$b3
000600684 7001_ $$0P:(DE-HGF)0$$aDemetriou, Charalambos$$b4
000600684 7001_ $$0P:(DE-HGF)0$$aMartin, Sara Barberan$$b5
000600684 7001_ $$0P:(DE-HGF)0$$aMalhotra, Sony$$b6
000600684 7001_ $$0P:(DE-HGF)0$$aTravnickova, Jana$$b7
000600684 7001_ $$0P:(DE-HGF)0$$aZeng, Zhiqiang$$b8
000600684 7001_ $$0P:(DE-HGF)0$$aBöhm, Markus$$b9
000600684 7001_ $$0P:(DE-HGF)0$$aBarbarot, Sebastien$$b10
000600684 7001_ $$0P:(DE-HGF)0$$aCottrell, Catherine$$b11
000600684 7001_ $$0P:(DE-HGF)0$$aDavies, Olivia$$b12
000600684 7001_ $$0P:(DE-HGF)0$$aBaselga, Eulalia$$b13
000600684 7001_ $$0P:(DE-HGF)0$$aBurrows, Nigel P.$$b14
000600684 7001_ $$0P:(DE-HGF)0$$aCarmignac, Virginie$$b15
000600684 7001_ $$0P:(DE-HGF)0$$aDiaz, Joey Santiago$$b16
000600684 7001_ $$0P:(DE-HGF)0$$aFink, Christine$$b17
000600684 7001_ $$0P:(DE-HGF)0$$aHaenssle, Holger A.$$b18
000600684 7001_ $$0P:(DE-HGF)0$$aHapple, Rudolf$$b19
000600684 7001_ $$0P:(DE-HGF)0$$aHarland, Mark$$b20
000600684 7001_ $$0P:(DE-HGF)0$$aMajerowski, Jacquelyn$$b21
000600684 7001_ $$0P:(DE-HGF)0$$aVabres, Pierre$$b22
000600684 7001_ $$0P:(DE-HGF)0$$aVincent, Marie$$b23
000600684 7001_ $$0P:(DE-HGF)0$$aNewton-Bishop, Julia A.$$b24
000600684 7001_ $$0P:(DE-HGF)0$$aBishop, D. Tim$$b25
000600684 7001_ $$0P:(DE-HGF)0$$aSiegel, Dawn$$b26
000600684 7001_ $$0P:(DE-HGF)0$$aPatton, E. Elizabeth$$b27
000600684 7001_ $$0P:(DE-H253)PIP1094132$$aTopf, Maya$$b28
000600684 7001_ $$0P:(DE-HGF)0$$aRajan, Neil$$b29
000600684 7001_ $$0P:(DE-HGF)0$$aDrolet, Beth$$b30
000600684 7001_ $$0P:(DE-HGF)0$$aKinsler, Veronica A.$$b31$$eCorresponding author
000600684 773__ $$0PERI:(DE-600)2006902-9$$a10.1016/j.jid.2022.09.661$$gVol. 143, no. 6, p. 1042 - 1051.e3$$n6$$p1042 - 1051.e3$$tThe journal of investigative dermatology$$v143$$x0022-202X$$y2023
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