Article
Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis.
Annals of the rheumatic diseases - 1 Jul 2026
Kaundal Urvashi, Tsou Pei-Suen, Sahu Mousumi, Huang Mengqi, Boyden Steven E, Woodford Curtis M, Shriner Daniel, Stenson Emilee, Safran Sarah Ayla, Zhou Yuechen, Talley Taylor A, Gudapati Kaavya, Zhang Xuetao, Kunishita Yosuke, Wang Janet, Shah Ami A, Mayes Maureen D, Doumatey Ayo P, Bentley Amy R, Domsic Robyn, Medsger Thomas A, Ramos Paula S, Silver Richard M, Steen Virginia, Varga John, Hsu Vivien, Saketkoo Lesley Ann, Schiopu Elena, Gordon Jessica K, Criswell Lindsey A, Gladue Heather, Derk Chris, Bernstein Elana J, Bridges S Louis, Shanmugam Victoria, Chung Lorinda, Kafaja Suzanne, Jan Reem, Trojanowski Marcin, Goldberg Avram, Korman Benjamin D, Mullikin James, Thomas James W, Dell'Orso Stefania, Randazzo Davide, Adeyemo Adebowale, Remmers Elaine F, Schwartzberg Pamela L, Aksentijevich Ivona, Rotimi Charles, Wigley Fredrick M, Wang Rong A, Boin Francesco, Khanna Dinesh, Lafyatis Robert, Kastner Daniel L, Gourh Pravitt
Abstract excerpt
OBJECTIVES: Vasculopathy and fibrosis are central to the pathogenesis of systemic sclerosis (SSc) and their genetic underpinnings are largely unknown. Here, we sought to examine the aetiology of severe vascular phenotypes and poorer outcomes in African American (AA) patients with SSc. METHODS: The study focuses on AA patients with SSc who have more severe vascular phenotypes and poorer outcomes and combines...
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