Somatic mutations reveal hyperactive Notch signaling in prurigo nodularis.

doi:10.1172/jci.insight.172371

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Article

Somatic mutations reveal hyperactive Notch signaling in prurigo nodularis.

JCI insight - 22 Apr 2026

Rajeh Ahmad, Shahsavari Shahin, Cornman Hannah, Kollhoff Alexander, Gupta Anuj, Szeto Mindy D, Kambala Anusha, Oladipo Olusola O, Parthasarathy Varsha, Deng Junwen, Marani Melika, Shahsavari Shirin, Yossef Selina M, Vaddaraju Vedha, Adawi Waleed, Akiska Yagiz M, Gage Davies M, Wheelan Sarah, Pritchard Thomas, Kwatra Madan M, Semenov Yevgeniy R, Gusev Alexander, Ho Won Jin, Yegnasubramanian Srinivasan, Kwatra Shawn G

Abstract excerpt

Prurigo nodularis (PN) is a chronic inflammatory skin disease characterized by pruritic skin nodules of unknown etiology. Little is known about genetic changes in PN pathogenesis, particularly somatic events, which are often implicated in inflammatory conditions. We thus performed whole-exome sequencing on 54 lesional and nonlesional skin biopsies from 17 patients with PN and 10 patients with atopic dermatitis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42018657
DOI: 10.1172/jci.insight.172371
PMCID: PMC13135409

Genes

NOTCH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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