A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis and hypoglycemia

• Text
• PDF

Abstract

Authors

Vinaya Simha, Mary Kate LoPiccolo, Anna Platt, Rebecca J. Brown, Xandria Johnson, Deanna Alexis Carere, Colleen Donnelly, Matthew T. Snyder, Chao Xing, Thomas P. Mathews, Purva Gopal, Stephen C. Ward, Diana R. Tomchick, Anil K. Agarwal, Ralph J. DeBerardinis, Abhimanyu Garg

Cellular profiling identifies targetable T cell phenotypes in lymphocytic variant hypereosinophilic syndrome

• Text
• PDF

Abstract

Authors

Kristy Tefft, Amy Wang, Zachary Z. Reinstein, Yue Zhang, Arundhati Pillai, Sunghee Hwang, Spencer Ng, Raymond J. Cho, Jeffrey B. Cheng, Fei Li Kuang, Brett King, Jaehyuk Choi

Distinct human small intestinal microbiome communities underlie visceral hypersensitivity in a humanized mouse model

• Text
• PDF

Abstract

Authors

Isin Y. Comba, Tijs Louwies, Ruben A. Mars, Yang Xiao, Prabhjot Kaur Sekhon, Brian S. Edwards, Adam Willits, Robin R. Shields-Cutler, Shreya Bellampalli, Arnaldo Mercado-Perez, Dennis R. Tienter, Lisa M. Till, David R. Linden, Gianrico Farrugia, Arthur Beyder, Kristen M. Smith-Edwards, Purna C. Kashyap

Clonal hematopoiesis driven by Dnmt3a mutations promotes metabolic disease development in mice

• Text
• PDF

Abstract

Authors

Bowen Yan, Qingchen Yuan, Marco M. Buttigieg, Prabhjot Kaur, Annalisse R. McKee, Daniil E. Shabashvili, Caitlyn Vlasschaert, Alexander G. Bick, Michael J. Rauh, Olga A. Guryanova

XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit

• Text
• PDF

Abstract

Authors

Hiva Fassihi, Shehla Mohammed, Yuka Nakazawa, Heather Fawcett, Sally Turner, Joanne Palfrey, Isabel Garrood, Adesoji Abiona, Ana M.S. Morley, Mayuko Shimada, Kana Kato, Alan R. Lehmann, Tomoo Ogi

Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice

• Text
• PDF

Abstract

Authors

Steven Q. Le, Alexander Sorensen, Soila Sukupolvi, Gianna Jewhurst, Grant L. Austin, Balraj Doray, Jonathan D. Cooper, Patricia I. Dickson

Prostate tumor-mediated IFNG signaling primes myeloid cells in bone premetastatic niche for immunosuppressive IL10 signaling

• Text
• PDF

Abstract

Authors

Mindy K Graham, Sarki A. Abdulkadir

Hypercapnia promotes maladaptive airway and vascular remodeling in mice

• Text
• PDF

Abstract

Authors

Masahiko Shigemura, Felix L. Nunez-Santana, S.Marina Casalino-Matsuda, David Kirchenbuechler, Radmila Nafikova, Fei Chen, Zhan Yu, Yuliana V. Sokolenko, Estefani Diaz, Suchitra Swaminathan, Suror Mohsin, Rizaldy P. Scott, Lynn C. Welch, Chitaru Kurihara, Emilia Lecuona, G.R. Scott Budinger, Peter H. S. Sporn, Jacob I. Sznajder, Ankit Bharat

Using plasma cell-free mRNA to profile immune response and myocardial damage in immune checkpoint inhibitor–induced myocarditis

• Text
• PDF

Abstract

Authors

Alireza Raissadati, Xuanyu Zhou, Harrison Chou, Yuhsin Vivian Huang, Shaheen Khatua, Yin Sun, Anne Xu, Sharon Loa, Arturo Hernandez, Han Zhu, Sean M. Wu

Differential BK channel potentiation by vanzacaftor enantiomers enables therapy for modulator-ineligible people with cystic fibrosis

• Text
• PDF

Abstract

Authors

Nathalie Baumlin, Sumedha Gunewardena, Scott H. Randell, Frank Horrigan, Matthias Salathe