Cardiology

  • Article
    | Open Access

    Study of human heart failure is limited by access to human tissue. Here, the authors apply multi-omic screening in human ischaemic and dilated myocardial tissue and matched controls to determine molecular changes common and unique to each aetiology and to reveal differences between male and female hearts.

    • Mengbo Li
    • , Benjamin L. Parker
    • , Evangeline Pearson
    • , Benjamin Hunter
    • , Jacob Cao
    • , Yen Chin Koay
    • , Oneka Guneratne
    • , David E. James
    • , Jean Yang
    • , Sean Lal
    •  & John F. O’Sullivan
  • Article
    | Open Access

    How cardiomyocytes mature and what regulates this is unclear. Here, the authors use single-cell analysis to examine how the population of murine cardiac fibroblasts changes during development and affects maturation of cardiomyocytes.

    • Yin Wang
    • , Fang Yao
    • , Lipeng Wang
    • , Zheng Li
    • , Zongna Ren
    • , Dandan Li
    • , Mingzhi Zhang
    • , Leng Han
    • , Shi-qiang Wang
    • , Bingying Zhou
    •  & Li Wang
  • Article
    | Open Access

    Disease stress-induced cardiac hypertrophy is a major mechanism of pathological cardiac remodeling. Here, the authors unveil a previously unrecognized role of a FoxO1–Dio2 signaling axis in maladaptive, afterload-induced cardiac hypertrophy and intracellular thyroid hormone homeostasis.

    • Anwarul Ferdous
    • , Zhao V. Wang
    • , Yuxuan Luo
    • , Dan L. Li
    • , Xiang Luo
    • , Gabriele G. Schiattarella
    • , Francisco Altamirano
    • , Herman I. May
    • , Pavan K. Battiprolu
    • , Annie Nguyen
    • , Beverly A. Rothermel
    • , Sergio Lavandero
    • , Thomas G. Gillette
    •  & Joseph A. Hill
  • Article
    | Open Access

    On the electrocardiogram, the PR interval reflects conduction from the atria to ventricles and also serves as risk indicator of cardiovascular morbidity and mortality. Here, the authors perform genome-wide meta-analyses for PR interval in multiple ancestries and identify 141 previously unreported genetic loci.

    • Ioanna Ntalla
    • , Lu-Chen Weng
    • , James H. Cartwright
    • , Amelia Weber Hall
    • , Gardar Sveinbjornsson
    • , Nathan R. Tucker
    • , Seung Hoan Choi
    • , Mark D. Chaffin
    • , Carolina Roselli
    • , Michael R. Barnes
    • , Borbala Mifsud
    • , Helen R. Warren
    • , Caroline Hayward
    • , Jonathan Marten
    • , James J. Cranley
    • , Maria Pina Concas
    • , Paolo Gasparini
    • , Thibaud Boutin
    • , Ivana Kolcic
    • , Ozren Polasek
    • , Igor Rudan
    • , Nathalia M. Araujo
    • , Maria Fernanda Lima-Costa
    • , Antonio Luiz P. Ribeiro
    • , Renan P. Souza
    • , Eduardo Tarazona-Santos
    • , Vilmantas Giedraitis
    • , Erik Ingelsson
    • , Anubha Mahajan
    • , Andrew P. Morris
    • , Fabiola Del Greco M
    • , Luisa Foco
    • , Martin Gögele
    • , Andrew A. Hicks
    • , James P. Cook
    • , Lars Lind
    • , Cecilia M. Lindgren
    • , Johan Sundström
    • , Christopher P. Nelson
    • , Muhammad B. Riaz
    • , Nilesh J. Samani
    • , Gianfranco Sinagra
    • , Sheila Ulivi
    • , Mika Kähönen
    • , Pashupati P. Mishra
    • , Nina Mononen
    • , Kjell Nikus
    • , Mark J. Caulfield
    • , Anna Dominiczak
    • , Sandosh Padmanabhan
    • , May E. Montasser
    • , Jeff R. O’Connell
    • , Kathleen Ryan
    • , Alan R. Shuldiner
    • , Stefanie Aeschbacher
    • , David Conen
    • , Lorenz Risch
    • , Sébastien Thériault
    • , Nina Hutri-Kähönen
    • , Terho Lehtimäki
    • , Leo-Pekka Lyytikäinen
    • , Olli T. Raitakari
    • , Catriona L. K. Barnes
    • , Harry Campbell
    • , Peter K. Joshi
    • , James F. Wilson
    • , Aaron Isaacs
    • , Jan A. Kors
    • , Cornelia M. van Duijn
    • , Paul L. Huang
    • , Vilmundur Gudnason
    • , Tamara B. Harris
    • , Lenore J. Launer
    • , Albert V. Smith
    • , Erwin P. Bottinger
    • , Ruth J. F. Loos
    • , Girish N. Nadkarni
    • , Michael H. Preuss
    • , Adolfo Correa
    • , Hao Mei
    • , James Wilson
    • , Thomas Meitinger
    • , Martina Müller-Nurasyid
    • , Annette Peters
    • , Melanie Waldenberger
    • , Massimo Mangino
    • , Timothy D. Spector
    • , Michiel Rienstra
    • , Yordi J. van de Vegte
    • , Pim van der Harst
    • , Niek Verweij
    • , Stefan Kääb
    • , Katharina Schramm
    • , Moritz F. Sinner
    • , Konstantin Strauch
    • , Michael J. Cutler
    • , Diane Fatkin
    • , Barry London
    • , Morten Olesen
    • , Dan M. Roden
    • , M. Benjamin Shoemaker
    • , J. Gustav Smith
    • , Mary L. Biggs
    • , Joshua C. Bis
    • , Jennifer A. Brody
    • , Bruce M. Psaty
    • , Kenneth Rice
    • , Nona Sotoodehnia
    • , Alessandro De Grandi
    • , Christian Fuchsberger
    • , Cristian Pattaro
    • , Peter P. Pramstaller
    • , Ian Ford
    • , J. Wouter Jukema
    • , Peter W. Macfarlane
    • , Stella Trompet
    • , Marcus Dörr
    • , Stephan B. Felix
    • , Uwe Völker
    • , Stefan Weiss
    • , Aki S. Havulinna
    • , Antti Jula
    • , Katri Sääksjärvi
    • , Veikko Salomaa
    • , Xiuqing Guo
    • , Susan R. Heckbert
    • , Henry J. Lin
    • , Jerome I. Rotter
    • , Kent D. Taylor
    • , Jie Yao
    • , Renée de Mutsert
    • , Arie C. Maan
    • , Dennis O. Mook-Kanamori
    • , Raymond Noordam
    • , Francesco Cucca
    • , Jun Ding
    • , Edward G. Lakatta
    • , Yong Qian
    • , Kirill V. Tarasov
    • , Daniel Levy
    • , Honghuang Lin
    • , Christopher H. Newton-Cheh
    • , Kathryn L. Lunetta
    • , Alison D. Murray
    • , David J. Porteous
    • , Blair H. Smith
    • , Bruno H. Stricker
    • , André Uitterlinden
    • , Marten E. van den Berg
    • , Jeffrey Haessler
    • , Rebecca D. Jackson
    • , Charles Kooperberg
    • , Ulrike Peters
    • , Alexander P. Reiner
    • , Eric A. Whitsel
    • , Alvaro Alonso
    • , Dan E. Arking
    • , Eric Boerwinkle
    • , Georg B. Ehret
    • , Elsayed Z. Soliman
    • , Christy L. Avery
    • , Stephanie M. Gogarten
    • , Kathleen F. Kerr
    • , Cathy C. Laurie
    • , Amanda A. Seyerle
    • , Adrienne Stilp
    • , Solmaz Assa
    • , M. Abdullah Said
    • , M. Yldau van der Ende
    • , Pier D. Lambiase
    • , Michele Orini
    • , Julia Ramirez
    • , Stefan Van Duijvenboden
    • , David O. Arnar
    • , Daniel F. Gudbjartsson
    • , Hilma Holm
    • , Patrick Sulem
    • , Gudmar Thorleifsson
    • , Rosa B. Thorolfsdottir
    • , Unnur Thorsteinsdottir
    • , Emelia J. Benjamin
    • , Andrew Tinker
    • , Kari Stefansson
    • , Patrick T. Ellinor
    • , Yalda Jamshidi
    • , Steven A. Lubitz
    •  & Patricia B. Munroe
  • Article
    | Open Access

    Sterol O-acyltransferase 1 (SOAT1, also named ACAT1) is an endoplasmic reticulum resident enzyme which catalyzes the esterification of cholesterol to generate cholesteryl esters. Here, authors report cryo-EM structures of human SOAT1 which reveal the binding site of the competitive inhibitor CI-976.

    • Chengcheng Guan
    • , Yange Niu
    • , Si-Cong Chen
    • , Yunlu Kang
    • , Jing-Xiang Wu
    • , Koji Nishi
    • , Catherine C. Y. Chang
    • , Ta-Yuan Chang
    • , Tuoping Luo
    •  & Lei Chen
  • Article
    | Open Access

    Structural changes to the left ventricle are characteristic of dilated cardiomyopathy (DCM), a disease for which many rare genetic variants are known. Here, Pirruccello et al. report GWAS of seven cardiac MRI measurements in the left ventricle and describe shared loci and polygenic association with DCM.

    • James P. Pirruccello
    • , Alexander Bick
    • , Minxian Wang
    • , Mark Chaffin
    • , Samuel Friedman
    • , Jie Yao
    • , Xiuqing Guo
    • , Bharath Ambale Venkatesh
    • , Kent D. Taylor
    • , Wendy S. Post
    • , Stephen Rich
    • , Joao A. C. Lima
    • , Jerome I. Rotter
    • , Anthony Philippakis
    • , Steven A. Lubitz
    • , Patrick T. Ellinor
    • , Amit V. Khera
    • , Sekar Kathiresan
    •  & Krishna G. Aragam
  • Article
    | Open Access

    Arterial degeneration, closely associated with cardiovascular diseases, is driven by aging-related vascular cell-specific transcriptomics changes. This study provides a single-cell transcriptomic atlas for senile aortic and coronary arteries and underscores FOXO3A-based the transcriptional network in vasoprotection during aging.

    • Weiqi Zhang
    • , Shu Zhang
    • , Pengze Yan
    • , Jie Ren
    • , Moshi Song
    • , Jingyi Li
    • , Jinghui Lei
    • , Huize Pan
    • , Si Wang
    • , Xibo Ma
    • , Shuai Ma
    • , Hongyu Li
    • , Fei Sun
    • , Haifeng Wan
    • , Wei Li
    • , Piu Chan
    • , Qi Zhou
    • , Guang-Hui Liu
    • , Fuchou Tang
    •  & Jing Qu
  • Article
    | Open Access

    SGLT2 inhibitors, a class of type 2 diabetes medication, reduce cardiovascular events in patients beyond expectation from blood sugar control. Here the authors report a randomized controlled trial showing that SGLT2 inhibitors reduce inflammasome activation in peripheral macrophages, which may contribute to the cardiovascular protection.

    • So Ra Kim
    • , Sang-Guk Lee
    • , Soo Hyun Kim
    • , Jin Hee Kim
    • , Eunhye Choi
    • , Wonhee Cho
    • , John Hoon Rim
    • , Inhwa Hwang
    • , Chan Joo Lee
    • , Minyoung Lee
    • , Chang-Myung Oh
    • , Justin Y. Jeon
    • , Heon Yung Gee
    • , Jeong-Ho Kim
    • , Byung-Wan Lee
    • , Eun Seok Kang
    • , Bong-Soo Cha
    • , Myung-Shik Lee
    • , Je-Wook Yu
    • , Jin Won Cho
    • , Jung-Sun Kim
    •  & Yong-ho Lee
  • Article
    | Open Access

    Aging induces cardiovascular disease, but which RNA molecules control cardiac aging is poorly understood. Here the authors identified the aging-regulated non-coding RNA Sarrah, which controls cardiomyocyte survival and cardiac function by inducing cardioprotective genes.

    • D. Julia Trembinski
    • , Diewertje I. Bink
    • , Kosta Theodorou
    • , Janina Sommer
    • , Ariane Fischer
    • , Anke van Bergen
    • , Chao-Chung Kuo
    • , Ivan G. Costa
    • , Christoph Schürmann
    • , Matthias S. Leisegang
    • , Ralf P. Brandes
    • , Tijna Alekseeva
    • , Boris Brill
    • , Astrid Wietelmann
    • , Christopher N. Johnson
    • , Alexander Spring-Connell
    • , Manuel Kaulich
    • , Stanislas Werfel
    • , Stefan Engelhardt
    • , Marc N. Hirt
    • , Kaja Yorgan
    • , Thomas Eschenhagen
    • , Luisa Kirchhof
    • , Patrick Hofmann
    • , Nicolas Jaé
    • , Ilka Wittig
    • , Nazha Hamdani
    • , Corinne Bischof
    • , Jaya Krishnan
    • , Riekelt H. Houtkooper
    • , Stefanie Dimmeler
    •  & Reinier A. Boon
  • Article
    | Open Access

    Senolytics have the potential to extend healthspan by selectively killing senescent cells (SCs), but senolytics that target Bcl-xl may cause platelet toxicity. Here, the authors generated a Bcl-xl proteolysis-targeting chimera (PROTAC) senolytic, which effectively clears SCs and rejuvenates tissue stem and progenitor cells in naturally aged mice without causing severe thrombocytopenia.

    • Yonghan He
    • , Xuan Zhang
    • , Jianhui Chang
    • , Ha-Neui Kim
    • , Peiyi Zhang
    • , Yingying Wang
    • , Sajid Khan
    • , Xingui Liu
    • , Xin Zhang
    • , Dongwen Lv
    • , Lin Song
    • , Wen Li
    • , Dinesh Thummuri
    • , Yaxia Yuan
    • , Janet S. Wiegand
    • , Yuma T. Ortiz
    • , Vivekananda Budamagunta
    • , Jennifer H. Elisseeff
    • , Judith Campisi
    • , Maria Almeida
    • , Guangrong Zheng
    •  & Daohong Zhou
  • Article
    | Open Access

    The molecular mechanisms that drive irreversible acute liver failure remain poorly characterized. Here, the authors show that the recently discovered platelet receptor CLEC-2 (C-type lectin-like receptor) perpetuates and worsens liver damage during acute liver injury by blocking restorative neutrophil driven inflammation.

    • Abhishek Chauhan
    • , Lozan Sheriff
    • , Mohammed T. Hussain
    • , Gwilym J. Webb
    • , Daniel A. Patten
    • , Emma L. Shepherd
    • , Robert Shaw
    • , Christopher J. Weston
    • , Debashis Haldar
    • , Samuel Bourke
    • , Rajan Bhandari
    • , Stephanie Watson
    • , David H. Adams
    • , Steve P. Watson
    •  & Patricia F. Lalor
  • Article
    | Open Access

    Epidemiological studies have shown an association between sedentary behaviours and cardiovascular disease risk. Here, van de Vegte et al. perform GWAS for self-reported sedentary behaviours (TV watching, computer use, driving) and Mendelian randomization analyses to explore potential causal relationships with coronary artery disease.

    • Yordi J. van de Vegte
    • , M. Abdullah Said
    • , Michiel Rienstra
    • , Pim van der Harst
    •  & Niek Verweij
  • Article
    | Open Access

    Metabolic remodeling plays an important role in pathological cardiac hypertrophy. Here, the authors show that hexosamine biosynthetic pathway is elevated in the heart by pressure overload, which contributes to heart failure by persistent activation of mTOR.

    • Diem Hong Tran
    • , Herman I. May
    • , Qinfeng Li
    • , Xiang Luo
    • , Jian Huang
    • , Guangyu Zhang
    • , Erica Niewold
    • , Xiaoding Wang
    • , Thomas G. Gillette
    • , Yingfeng Deng
    •  & Zhao V. Wang
  • Article
    | Open Access

    The role of automatic electrocardiogram (ECG) analysis in clinical practice is limited by the accuracy of existing models. In that context, the authors present a Deep Neural Network (DNN) that recognizes different abnormalities in ECG recordings which matches or outperform cardiology and emergency resident medical doctors.

    • Antônio H. Ribeiro
    • , Manoel Horta Ribeiro
    • , Gabriela M. M. Paixão
    • , Derick M. Oliveira
    • , Paulo R. Gomes
    • , Jéssica A. Canazart
    • , Milton P. S. Ferreira
    • , Carl R. Andersson
    • , Peter W. Macfarlane
    • , Wagner Meira Jr.
    • , Thomas B. Schön
    •  & Antonio Luiz P. Ribeiro
  • Article
    | Open Access

    Pulmonary arterial hypertension (PAH) is a heterogeneous disease, causing severe breathing problems and cardiac morbidity. Here, the authors study chromatin marks in pulmonary arterial endothelial cells from PAH patients and controls and find changes in transcription factor and enhancer activity that suggest an aberrant response to signalling in PAH.

    • Armando Reyes-Palomares
    • , Mingxia Gu
    • , Fabian Grubert
    • , Ivan Berest
    • , Silin Sa
    • , Maya Kasowski
    • , Christian Arnold
    • , Mao Shuai
    • , Rohith Srivas
    • , Simon Miao
    • , Dan Li
    • , Michael P. Snyder
    • , Marlene Rabinovitch
    •  & Judith B. Zaugg
  • Article
    | Open Access

    Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels are essential for rhythmic activity in the heart and brain. Here authors reverse the voltage dependence of HCN channels by mutating only two residues located at the interface between the voltage sensor and the pore domain.

    • Rosamary Ramentol
    • , Marta E. Perez
    •  & H. Peter Larsson
  • Article
    | Open Access

    Reperfusion injury following myocardial ischemia is aggravated by inflammation and platelet–neutrophil complex formation. Here the authors show that semaphorin 7A binds to platelet GPIb, enhancing platelet–neutrophil interaction and increasing post-ischemic myocardial tissue injury, and that blockage of semaphorin 7A is protective.

    • David Köhler
    • , Tiago Granja
    • , Julia Volz
    • , Michael Koeppen
    • , Harald F. Langer
    • , Georg Hansmann
    • , Ekaterina Legchenko
    • , Tobias Geisler
    • , Tamam Bakchoul
    • , Claudia Eggstein
    • , Helene A. Häberle
    • , Bernhard Nieswandt
    •  & Peter Rosenberger
  • Article
    | Open Access

    Autoantibodies against endothelium have been recognized in Takayasu arteritis (TAK). Here the authors identify endothelial protein C receptor and scavenger receptor class B type 1 as major autoantigens in TAK, and find autoantibodies inhibit the negative regulation of endothelial activation.

    • Tomoyuki Mutoh
    • , Tsuyoshi Shirai
    • , Tomonori Ishii
    • , Yuko Shirota
    • , Fumiyoshi Fujishima
    • , Fumiaki Takahashi
    • , Yoichi Kakuta
    • , Yoshitake Kanazawa
    • , Atsushi Masamune
    • , Yoshikatsu Saiki
    • , Hideo Harigae
    •  & Hiroshi Fujii
  • Article
    | Open Access

    Pulmonary arterial hypertension is a severe lung disease characterised by progressive vascular remodelling. Here, the authors show that reduced signalling of flow-activated transcription factor KLF2 is a common feature of human PAH and that KLF2-regulated exosomal miRNAs have a therapeutic effect.

    • Hebah A. Sindi
    • , Giusy Russomanno
    • , Sandro Satta
    • , Vahitha B. Abdul-Salam
    • , Kyeong Beom Jo
    • , Basma Qazi-Chaudhry
    • , Alexander J. Ainscough
    • , Robert Szulcek
    • , Harm Jan Bogaard
    • , Claire C. Morgan
    • , Soni S. Pullamsetti
    • , Mai M. Alzaydi
    • , Christopher J. Rhodes
    • , Roberto Piva
    • , Christina A. Eichstaedt
    • , Ekkehard Grünig
    • , Martin R. Wilkins
    •  & Beata Wojciak-Stothard
  • Article
    | Open Access

    The enzyme ACE2 is involved in cardiac pathology and can counteract heart failure and other cardio-pulmonary diseases. Here the authors show that bacteria produce an ACE2-like enzyme that is effective in suppressing cardiac hypertrophy and fibrosis in mice.

    • Takafumi Minato
    • , Satoru Nirasawa
    • , Teruki Sato
    • , Tomokazu Yamaguchi
    • , Midori Hoshizaki
    • , Tadakatsu Inagaki
    • , Kazuhiko Nakahara
    • , Tadashi Yoshihashi
    • , Ryo Ozawa
    • , Saki Yokota
    • , Miyuki Natsui
    • , Souichi Koyota
    • , Taku Yoshiya
    • , Kumiko Yoshizawa-Kumagaye
    • , Satoru Motoyama
    • , Takeshi Gotoh
    • , Yoshikazu Nakaoka
    • , Josef M. Penninger
    • , Hiroyuki Watanabe
    • , Yumiko Imai
    • , Saori Takahashi
    •  & Keiji Kuba
  • Article
    | Open Access

    Cardiovascular calcification is a serious pathology for which effective pharmacological treatments are lacking. Here the authors show that an optimized oligo(ethylene glycol) derivative of inositol phosphate interferes with calcium phosphate crystallization and inhibits soft tissue calcification in vivo following subcutaneous injection.

    • Antonia E. Schantl
    • , Anja Verhulst
    • , Ellen Neven
    • , Geert J. Behets
    • , Patrick C. D’Haese
    • , Marc Maillard
    • , David Mordasini
    • , Olivier Phan
    • , Michel Burnier
    • , Dany Spaggiari
    • , Laurent A. Decosterd
    • , Mark G. MacAskill
    • , Carlos J. Alcaide-Corral
    • , Adriana A. S. Tavares
    • , David E. Newby
    • , Victoria C. Beindl
    • , Roberto Maj
    • , Anne Labarre
    • , Chrismita Hegde
    • , Bastien Castagner
    • , Mattias E. Ivarsson
    •  & Jean-Christophe Leroux
  • Article
    | Open Access

    miR-132 was shown to drive pathological cardiac remodeling, a hallmark of heart failure. Here, the authors show that an antisense inhibitor of miR-132 has favourable pharmacokinetics, safety-tolerability and preclinical efficacy in mouse and porcine models of heart failure.

    • Ariana Foinquinos
    • , Sandor Batkai
    • , Celina Genschel
    • , Janika Viereck
    • , Steffen Rump
    • , Mariann Gyöngyösi
    • , Denise Traxler
    • , Martin Riesenhuber
    • , Andreas Spannbauer
    • , Dominika Lukovic
    • , Natalie Weber
    • , Katrin Zlabinger
    • , Ena Hašimbegović
    • , Johannes Winkler
    • , Jan Fiedler
    • , Seema Dangwal
    • , Martin Fischer
    • , Jeanne de la Roche
    • , Daniel Wojciechowski
    • , Theresia Kraft
    • , Rita Garamvölgyi
    • , Sonja Neitzel
    • , Shambhabi Chatterjee
    • , Xiaoke Yin
    • , Christian Bär
    • , Manuel Mayr
    • , Ke Xiao
    •  & Thomas Thum
  • Article
    | Open Access

    Macrophages mediate the fibrotic response after a heart attack by extracellular matrix turnover and cardiac fibroblasts activation. Here the authors identify an evolutionarily-conserved function of macrophages that contributes directly to the forming post-injury scar through cell-autonomous deposition of collagen.

    • Filipa C. Simões
    • , Thomas J. Cahill
    • , Amy Kenyon
    • , Daria Gavriouchkina
    • , Joaquim M. Vieira
    • , Xin Sun
    • , Daniela Pezzolla
    • , Christophe Ravaud
    • , Eva Masmanian
    • , Michael Weinberger
    • , Sarah Mayes
    • , Madeleine E. Lemieux
    • , Damien N. Barnette
    • , Mala Gunadasa-Rohling
    • , Ruth M. Williams
    • , David R. Greaves
    • , Le A. Trinh
    • , Scott E. Fraser
    • , Sarah L. Dallas
    • , Robin P. Choudhury
    • , Tatjana Sauka-Spengler
    •  & Paul R. Riley
  • Article
    | Open Access

    The role of of voltage-gated sodium channels (Nav) in pacemaking and conduction of the human sinoatrial node is unclear. Here, the authors investigate existence and function of neuronal and cardiac Nav in human sinoatrial nodes, and demonstrate their alterations in explanted human diseased hearts.

    • Ning Li
    • , Anuradha Kalyanasundaram
    • , Brian J. Hansen
    • , Esthela J. Artiga
    • , Roshan Sharma
    • , Suhaib H. Abudulwahed
    • , Katelynn M. Helfrich
    • , Galina Rozenberg
    • , Pei-Jung Wu
    • , Stanislav Zakharkin
    • , Sandor Gyorke
    • , Paul ML. Janssen
    • , Bryan A. Whitson
    • , Nahush A. Mokadam
    • , Brandon J. Biesiadecki
    • , Federica Accornero
    • , John D. Hummel
    • , Peter J. Mohler
    • , Halina Dobrzynski
    • , Jichao Zhao
    •  & Vadim V. Fedorov
  • Article
    | Open Access

    Heart failure is a major health issue worldwide. Here, Egerstedt et al. perform proteomic profiling of human plasma at different stages of heart failure, providing a comprehensive analysis of changes in the plasma proteome during disease progression.

    • Anna Egerstedt
    • , John Berntsson
    • , Maya Landenhed Smith
    • , Olof Gidlöf
    • , Roland Nilsson
    • , Mark Benson
    • , Quinn S. Wells
    • , Selvi Celik
    • , Carl Lejonberg
    • , Laurie Farrell
    • , Sumita Sinha
    • , Dongxiao Shen
    • , Jakob Lundgren
    • , Göran Rådegran
    • , Debby Ngo
    • , Gunnar Engström
    • , Qiong Yang
    • , Thomas J. Wang
    • , Robert E. Gerszten
    •  & J. Gustav Smith
  • Article
    | Open Access

    Mutations in Ftkn cause Fukuyama muscular dystrophy, and heart failure is the main cause of death in thes patients. Here the authors show that acute elimination of Fktn in adult mice causes early mortality, and this is associated with myocyte dysfunction, with disorganised Golg-microtubule networks, and that the pathology can be ameliorated with colchicine treatment.

    • Yoshihiro Ujihara
    • , Motoi Kanagawa
    • , Satoshi Mohri
    • , Satomi Takatsu
    • , Kazuhiro Kobayashi
    • , Tatsushi Toda
    • , Keiji Naruse
    •  & Yuki Katanosaka
  • Article
    | Open Access

    Integrin-linked kinase (ILK) is an important mediator of integrin signaling. Here Park et al. show that mice with endothelial-specific deletion of Ilk develop vascular defects that resemble familial exudative vitreoretinopathy, and identify mutations in ILK in patients with exudative vitreoretinopathy suggesting a potential role in human pathogenesis.

    • Hongryeol Park
    • , Hiroyuki Yamamoto
    • , Lucas Mohn
    • , Lea Ambühl
    • , Kenichi Kanai
    • , Inga Schmidt
    • , Kee-Pyo Kim
    • , Alessia Fraccaroli
    • , Silke Feil
    • , Harald J. Junge
    • , Eloi Montanez
    • , Wolfgang Berger
    •  & Ralf H. Adams
  • Article
    | Open Access

    The risk of fatal stroke is increased in children, adolescent, and young (<40 years) cancer patients after diagnosis. Here, the authors report a retrospective, population-based study and show that the risk of stroke among cancer patients is twice that of the general population and rises with longer follow up time.

    • Nicholas G. Zaorsky
    • , Ying Zhang
    • , Leila T. Tchelebi
    • , Heath B. Mackley
    • , Vernon M. Chinchilli
    •  & Brad E. Zacharia
  • Article
    | Open Access

    The endothelium actively maintains an anticoagulant surface through expression of thrombomodulin. Here, Peghaire et al. identify an anti-thrombotic pathway that controls thrombomodulin expression selectively in regions of low shear stress, via cooperation of the transcription factors ERG and KLF2.

    • C. Peghaire
    • , N. P. Dufton
    • , M. Lang
    • , I. I. Salles-Crawley
    • , J. Ahnström
    • , V. Kalna
    • , C. Raimondi
    • , C. Pericleous
    • , L. Inuabasi
    • , R. Kiseleva
    • , V. R. Muzykantov
    • , J. C. Mason
    • , G. M. Birdsey
    •  & A. M. Randi
  • Article
    | Open Access

    Mutations associated with SCN5A, which encodes the major cardiac sodium channel, influence impulse conduction and are associated with arrhythmia disorders. Here, the authors identify an evolutionary conserved, super enhancer-like, regulatory cluster downstream of SCN5A and show that it controls the chromatin architecture of the locus and Scn5a expression.

    • Joyce C. K. Man
    • , Rajiv A. Mohan
    • , Malou van den Boogaard
    • , Catharina R. E. Hilvering
    • , Catherine Jenkins
    • , Vincent Wakker
    • , Valerio Bianchi
    • , Wouter de Laat
    • , Phil Barnett
    • , Bastiaan J. Boukens
    •  & Vincent M. Christoffels
  • Article
    | Open Access

    Many patients, following therapy for acute myocardial infarction, develop adverse cardiac remodelling. Here the authors present injectable recombinant human collagen 10 of 10 type I and III matrices that are able to limit adverse remodelling and improve function of the myocardium.

    • Sarah McLaughlin
    • , Brian McNeill
    • , James Podrebarac
    • , Katsuhiro Hosoyama
    • , Veronika Sedlakova
    • , Gregory Cron
    • , David Smyth
    • , Richard Seymour
    • , Keshav Goel
    • , Wenbin Liang
    • , Katey J. Rayner
    • , Marc Ruel
    • , Erik J. Suuronen
    •  & Emilio I. Alarcon
  • Article
    | Open Access

    Aberrant morphology of the QRS complex in an electrocardiogram can be associated with cardiac morbidity and mortality. Here, the authors perform genome-wide association studies for ten measures of the QRS complex in 81,192 individuals and find 86 previously unreported loci that associate with at least one parameter.

    • Kristjan Norland
    • , Gardar Sveinbjornsson
    • , Rosa B. Thorolfsdottir
    • , Olafur B. Davidsson
    • , Vinicius Tragante
    • , Sridharan Rajamani
    • , Anna Helgadottir
    • , Solveig Gretarsdottir
    • , Jessica van Setten
    • , Folkert W. Asselbergs
    • , Jon Th. Sverrisson
    • , Sigurdur S. Stephensen
    • , Gylfi Oskarsson
    • , Emil L. Sigurdsson
    • , Karl Andersen
    • , Ragnar Danielsen
    • , Gudmundur Thorgeirsson
    • , Unnur Thorsteinsdottir
    • , David O. Arnar
    • , Patrick Sulem
    • , Hilma Holm
    • , Daniel F. Gudbjartsson
    •  & Kari Stefansson
  • Article
    | Open Access

    Genome-wide association studies of metabolites have revealed hundreds of genetic associations using univariate analyses. Here, the authors use a multivariate approach to perform association analyses for 158 serum metabolites, followed by fine mapping and GxE interaction tests with statin use and age.

    • Apolline Gallois
    • , Joel Mefford
    • , Arthur Ko
    • , Amaury Vaysse
    • , Hanna Julienne
    • , Mika Ala-Korpela
    • , Markku Laakso
    • , Noah Zaitlen
    • , Päivi Pajukanta
    •  & Hugues Aschard
  • Article
    | Open Access

    The majority of disease-associated genetic variants lie in non-coding regions. Here the authors generated and compiled human transcriptomic, epigenomic and chromatin conformation datasets, to identify genes associated with atrial fibrillation and functional non-coding variants.

    • Antoinette F. van Ouwerkerk
    • , Fernanda M. Bosada
    • , Karel van Duijvenboden
    • , Matthew C. Hill
    • , Lindsey E. Montefiori
    • , Koen T. Scholman
    • , Jia Liu
    • , Antoine A. F. de Vries
    • , Bastiaan J. Boukens
    • , Patrick T. Ellinor
    • , Marie José T. H. Goumans
    • , Igor R. Efimov
    • , Marcelo A. Nobrega
    • , Phil Barnett
    • , James F. Martin
    •  & Vincent M. Christoffels
  • Article
    | Open Access

    Mutations in the gene HADHA result in mitochondrial tri-functional protein (MTP) deficiency and can result in sudden infant death syndrome for which there is no treatment. Here the authors show that the MTP deficient pathology in human cardiomyocytes leads to an abnormal cardiolipin pattern and suggests that cardiolipin affecting compounds may serve as a potential therapy.

    • Jason W. Miklas
    • , Elisa Clark
    • , Shiri Levy
    • , Damien Detraux
    • , Andrea Leonard
    • , Kevin Beussman
    • , Megan R. Showalter
    • , Alec T. Smith
    • , Peter Hofsteen
    • , Xiulan Yang
    • , Jesse Macadangdang
    • , Tuula Manninen
    • , Daniel Raftery
    • , Anup Madan
    • , Anu Suomalainen
    • , Deok-Ho Kim
    • , Charles E. Murry
    • , Oliver Fiehn
    • , Nathan J. Sniadecki
    • , Yuliang Wang
    •  & Hannele Ruohola-Baker
  • Article
    | Open Access

    Both insulin and IGF-1 signaling have been implicated in arterial intimal hyperplasia. Here the authors dissect the relative contributions of insulin and IGF-1 receptors, showing that homodimers of insulin receptors, but not IGF-1 receptor, induce proliferation of vascular smooth muscle cells.

    • Qian Li
    • , Jialin Fu
    • , Yu Xia
    • , Weier Qi
    • , Atsushi Ishikado
    • , Kyoungmin Park
    • , Hisashi Yokomizo
    • , Qian Huang
    • , Weikang Cai
    • , Christian Rask-Madsen
    • , C. Ronald Kahn
    •  & George L. King
  • Article
    | Open Access

    Cardiovascular diseases (CVD) are associated with plasma lipid levels. Here, Tabassum et al. perform genome-wide association studies for lipidomic profiles with 141 (non-standard) lipid species which highlights shared genetic loci with CVD and that traditional lipids have low genetic correlation with other lipids.

    • Rubina Tabassum
    • , Joel T. Rämö
    • , Pietari Ripatti
    • , Jukka T. Koskela
    • , Mitja Kurki
    • , Juha Karjalainen
    • , Priit Palta
    • , Shabbeer Hassan
    • , Javier Nunez-Fontarnau
    • , Tuomo T. J. Kiiskinen
    • , Sanni Söderlund
    • , Niina Matikainen
    • , Mathias J. Gerl
    • , Michal A. Surma
    • , Christian Klose
    • , Nathan O. Stitziel
    • , Hannele Laivuori
    • , Aki S. Havulinna
    • , Susan K. Service
    • , Veikko Salomaa
    • , Matti Pirinen
    • , Anu Jalanko
    • , Jaakko Kaprio
    • , Kati Donner
    • , Mari Kaunisto
    • , Nina Mars
    • , Alexander Dada
    • , Anastasia Shcherban
    • , Andrea Ganna
    • , Arto Lehisto
    • , Elina Kilpeläinen
    • , Georg Brein
    • , Ghazal Awaisa
    • , Jarmo Harju
    • , Kalle Pärn
    • , Pietro Della Briotta Parolo
    • , Risto Kajanne
    • , Susanna Lemmelä
    • , Timo P. Sipilä
    • , Tuomas Sipilä
    • , Ulrike Lyhs
    • , Vincent Llorens
    • , Teemu Niiranen
    • , Kati Kristiansson
    • , Lotta Männikkö
    • , Manuel González Jiménez
    • , Markus Perola
    • , Regis Wong
    • , Terhi Kilpi
    • , Tero Hiekkalinna
    • , Elina Järvensivu
    • , Essi Kaiharju
    • , Hannele Mattsson
    • , Markku Laukkanen
    • , Päivi Laiho
    • , Sini Lähteenmäki
    • , Tuuli Sistonen
    • , Sirpa Soini
    • , Adam Ziemann
    • , Anne Lehtonen
    • , Apinya Lertratanakul
    • , Bob Georgantas
    • , Bridget Riley-Gillis
    • , Danjuma Quarless
    • , Fedik Rahimov
    • , Graham Heap
    • , Howard Jacob
    • , Jeffrey Waring
    • , Justin Wade Davis
    • , Nizar Smaoui
    • , Relja Popovic
    • , Sahar Esmaeeli
    • , Jeff Waring
    • , Athena Matakidou
    • , Ben Challis
    • , David Close
    • , Slavé Petrovski
    • , Antti Karlsson
    • , Johanna Schleutker
    • , Kari Pulkki
    • , Petri Virolainen
    • , Lila Kallio
    • , Arto Mannermaa
    • , Sami Heikkinen
    • , Veli-Matti Kosma
    • , Chia-Yen Chen
    • , Heiko Runz
    • , Jimmy Liu
    • , Paola Bronson
    • , Sally John
    • , Sanni Lahdenperä
    • , Susan Eaton
    • , Wei Zhou
    • , Minna Hendolin
    • , Outi Tuovila
    • , Raimo Pakkanen
    • , Joseph Maranville
    • , Keith Usiskin
    • , Marla Hochfeld
    • , Robert Plenge
    • , Robert Yang
    • , Shameek Biswas
    • , Steven Greenberg
    • , Eija Laakkonen
    • , Juha Kononen
    • , Juha Paloneva
    • , Urho Kujala
    • , Teijo Kuopio
    • , Jari Laukkanen
    • , Eeva Kangasniemi
    • , Kimmo Savinainen
    • , Reijo Laaksonen
    • , Mikko Arvas
    • , Jarmo Ritari
    • , Jukka Partanen
    • , Kati Hyvärinen
    • , Tiina Wahlfors
    • , Andrew Peterson
    • , Danny Oh
    • , Diana Chang
    • , Edmond Teng
    • , Erich Strauss
    • , Geoff Kerchner
    • , Hao Chen
    • , Hubert Chen
    • , Jennifer Schutzman
    • , John Michon
    • , Julie Hunkapiller
    • , Mark McCarthy
    • , Natalie Bowers
    • , Tim Lu
    • , Tushar Bhangale
    • , David Pulford
    • , Dawn Waterworth
    • , Diptee Kulkarni
    • , Fanli Xu
    • , Jo Betts
    • , Jorge Esparza Gordillo
    • , Joshua Hoffman
    • , Kirsi Auro
    • , Linda McCarthy
    • , Soumitra Ghosh
    • , Meg Ehm
    • , Kimmo Pitkänen
    • , Tomi Mäkelä
    • , Anu Loukola
    • , Heikki Joensuu
    • , Juha Sinisalo
    • , Kari Eklund
    • , Lauri Aaltonen
    • , Martti Färkkilä
    • , Olli Carpen
    • , Paula Kauppi
    • , Pentti Tienari
    • , Terhi Ollila
    • , Tiinamaija Tuomi
    • , Tuomo Meretoja
    • , Anne Pitkäranta
    • , Joni Turunen
    • , Katariina Hannula-Jouppi
    • , Sampsa Pikkarainen
    • , Sanna Seitsonen
    • , Miika Koskinen
    • , Antti Palomäki
    • , Juha Rinne
    • , Kaj Metsärinne
    • , Klaus Elenius
    • , Laura Pirilä
    • , Leena Koulu
    • , Markku Voutilainen
    • , Markus Juonala
    • , Sirkku Peltonen
    • , Vesa Aaltonen
    • , Andrey Loboda
    • , Anna Podgornaia
    • , Aparna Chhibber
    • , Audrey Chu
    • , Caroline Fox
    • , Dorothee Diogo
    • , Emily Holzinger
    • , John Eicher
    • , Padhraig Gormley
    • , Vinay Mehta
    • , Xulong Wang
    • , Johannes Kettunen
    • , Katri Pylkäs
    • , Marita Kalaoja
    • , Minna Karjalainen
    • , Reetta Hinttala
    • , Riitta Kaarteenaho
    • , Seppo Vainio
    • , Tuomo Mantere
    • , Seppo Vainio
    • , Anne Remes
    • , Johanna Huhtakangas
    • , Juhani Junttila
    • , Kaisa Tasanen
    • , Laura Huilaja
    • , Marja Luodonpää
    • , Nina Hautala
    • , Peeter Karihtala
    • , Saila Kauppila
    • , Terttu Harju
    • , Timo Blomster
    • , Hilkka Soininen
    • , Ilkka Harvima
    • , Jussi Pihlajamäki
    • , Kai Kaarniranta
    • , Margit Pelkonen
    • , Markku Laakso
    • , Mikko Hiltunen
    • , Mikko Kiviniemi
    • , Oili Kaipiainen-Seppänen
    • , Päivi Auvinen
    • , Reetta Kälviäinen
    • , Valtteri Julkunen
    • , Anders Malarstig
    • , Åsa Hedman
    • , Catherine Marshall
    • , Christopher Whelan
    • , Heli Lehtonen
    • , Jaakko Parkkinen
    • , Kari Linden
    • , Kirsi Kalpala
    • , Melissa Miller
    • , Nan Bing
    • , Stefan McDonough
    • , Xing Chen
    • , Xinli Hu
    • , Ying Wu
    • , Annika Auranen
    • , Airi Jussila
    • , Hannele Uusitalo-Järvinen
    • , Hannu Kankaanranta
    • , Hannu Uusitalo
    • , Jukka Peltola
    • , Mika Kähönen
    • , Pia Isomäki
    • , Tarja Laitinen
    • , Teea Salmi
    • , Anthony Muslin
    • , Clarence Wang
    • , Clement Chatelain
    • , Ethan Xu
    • , Franck Auge
    • , Kathy Call
    • , Kathy Klinger
    • , Marika Crohns
    • , Matthias Gossel
    • , Kimmo Palin
    • , Manuel Rivas
    • , Harri Siirtola
    • , Javier Gracia Tabuenca
    • , Matti Jauhiainen
    • , Mark J. Daly
    • , Nelson B. Freimer
    • , Aarno Palotie
    • , Marja-Riitta Taskinen
    • , Kai Simons
    •  & Samuli Ripatti
  • Article
    | Open Access

    The majority of published GWAS was performed in European ancestry populations. Here, Kuchenbaecker et al., test to which extent lipid loci are shared and find that the major lipid loci are mostly transferrable between Europeans and Asians while there are notable exceptions for African populations.

    • Karoline Kuchenbaecker
    • , Nikita Telkar
    • , Theresa Reiker
    • , Robin G. Walters
    • , Kuang Lin
    • , Anders Eriksson
    • , Deepti Gurdasani
    • , Arthur Gilly
    • , Lorraine Southam
    • , Emmanouil Tsafantakis
    • , Maria Karaleftheri
    • , Janet Seeley
    • , Anatoli Kamali
    • , Gershim Asiki
    • , Iona Y. Millwood
    • , Michael Holmes
    • , Huaidong Du
    • , Yu Guo
    • , Meena Kumari
    • , George Dedoussis
    • , Liming Li
    • , Zhengming Chen
    • , Manjinder S. Sandhu
    • , Eleftheria Zeggini
    • , Michaela Benzeval
    • , Jonathan Burton
    • , Nicholas Buck
    • , Annette Jäckle
    • , Heather Laurie
    • , Peter Lynn
    • , Stephen Pudney
    • , Birgitta Rabe
    •  & Dieter Wolke
  • Article
    | Open Access

    Circular RNAs (circRNAs) are non-coding RNAs generated from pre-mRNAs of coding genes by the splicing machinery whose function in the heart is poorly understood. Here the authors show that AAV-mediated delivery of the circRNA circFndc3b prevents cardiomyocyte apoptosis, enhances angiogenesis, and attenuates LV dysfunction post-MI in mice by regulating FUS-VEGF-A signalling.

    • Venkata Naga Srikanth Garikipati
    • , Suresh Kumar Verma
    • , Zhongjian Cheng
    • , Dongming Liang
    • , May M. Truongcao
    • , Maria Cimini
    • , Yujia Yue
    • , Grace Huang
    • , Chunlin Wang
    • , Cindy Benedict
    • , Yan Tang
    • , Vandana Mallaredy
    • , Jessica Ibetti
    • , Laurel Grisanti
    • , Sarah M. Schumacher
    • , Erhe Gao
    • , Sudarsan Rajan
    • , Jeremy E. Wilusz
    • , David Goukassian
    • , Steven R. Houser
    • , Walter J. Koch
    •  & Raj Kishore
  • Article
    | Open Access

    Differentially methylated CpGs can inform on disease mechanisms and be useful as biomarkers. Here, the authors perform GWAS for DNA methylation in whole blood, cis- and trans-meQTL mapping, followed by Mendelian randomization analysis that links meQTLs with cardiovascular diseases.

    • Tianxiao Huan
    • , Roby Joehanes
    • , Ci Song
    • , Fen Peng
    • , Yichen Guo
    • , Michael Mendelson
    • , Chen Yao
    • , Chunyu Liu
    • , Jiantao Ma
    • , Melissa Richard
    • , Golareh Agha
    • , Weihua Guan
    • , Lynn M. Almli
    • , Karen N. Conneely
    • , Joshua Keefe
    • , Shih-Jen Hwang
    • , Andrew D. Johnson
    • , Myriam Fornage
    • , Liming Liang
    •  & Daniel Levy
  • Article
    | Open Access

    Renin-angiotensin system inhibitors (RASi) are beneficial in several classes of cardiovascular patients. However, whether their perioperative use is beneficial and/or safe in cardiac surgery is unclear. Here the authors perform a multicenter retrospective cohort study showing that preoperative and postoperative use of RASi is associated with reduction of mortality in patients undergoing cardiac surgery.

    • Qian Ding
    • , Zugui Zhang
    • , Hong Liu
    • , Huang Nie
    • , Mark Berguson
    • , Jordan E. Goldhammer
    • , Nilas Young
    • , Douglas Boyd
    • , Rohinton Morris
    •  & Jianzhong Sun
  • Article
    | Open Access

    Survival and proliferation of vascular cells in the presence of DNA damage is a characteristic of pulmonary arterial hypertension. Here the authors show that the phosphatase EYA3 contributes to vascular remodeling by promoting survival of damaged cells, and present results of genetic and pharmacological EYA3 inhibition.

    • Yuhua Wang
    • , Ram Naresh Pandey
    • , Allen J. York
    • , Jaya Mallela
    • , William C. Nichols
    • , Yueh-Chiang Hu
    • , Jeffery D. Molkentin
    • , Kathryn A. Wikenheiser-Brokamp
    •  & Rashmi S. Hegde
  • Article
    | Open Access

    Na+-H+ exchanger 1 (Nhe1) regulates extracellular pH by extruding protons in exchange for extracellular Na+ . Here, Liu et al. show that Nhe1 promotes the development and acidification of atherosclerotic lesions and that pH-sensitive probes can be used to monitor plaque growth and acidification.

    • Cong-Lin Liu
    • , Xian Zhang
    • , Jing Liu
    • , Yunzhe Wang
    • , Galina K. Sukhova
    • , Gregory R. Wojtkiewicz
    • , Tianxiao Liu
    • , Rui Tang
    • , Samuel Achilefu
    • , Matthias Nahrendorf
    • , Peter Libby
    • , Junli Guo
    • , Jin-Ying Zhang
    •  & Guo-Ping Shi
  • Article
    | Open Access

    The studies showing health benefits of flavonoids and their impact on cancer mortality are incomplete. Here, the authors perform a prospective cohort study in Danish participants and demonstrate an inverse association between regular flavonoid intake and both cardiovascular and cancer related mortality.

    • Nicola P. Bondonno
    • , Frederik Dalgaard
    • , Cecilie Kyrø
    • , Kevin Murray
    • , Catherine P. Bondonno
    • , Joshua R. Lewis
    • , Kevin D. Croft
    • , Gunnar Gislason
    • , Augustin Scalbert
    • , Aedin Cassidy
    • , Anne Tjønneland
    • , Kim Overvad
    •  & Jonathan M. Hodgson
  • Article
    | Open Access

    Pathological cardiac fibrosis is a hallmark of diseases leading to heart failure. Here, the authors used systems genetics to identify a pro-fibrotic gene network regulated by WWP2, a E3 ubiquitin ligase, which orchestrates the nucleocytoplasmic shuttling and transcriptional activity of SMAD2 in the diseased heart.

    • Huimei Chen
    • , Aida Moreno-Moral
    • , Francesco Pesce
    • , Nithya Devapragash
    • , Massimiliano Mancini
    • , Ee Ling Heng
    • , Maxime Rotival
    • , Prashant K. Srivastava
    • , Nathan Harmston
    • , Kirill Shkura
    • , Owen J. L. Rackham
    • , Wei-Ping Yu
    • , Xi-Ming Sun
    • , Nicole Gui Zhen Tee
    • , Elisabeth Li Sa Tan
    • , Paul J. R. Barton
    • , Leanne E. Felkin
    • , Enrique Lara-Pezzi
    • , Gianni Angelini
    • , Cristina Beltrami
    • , Michal Pravenec
    • , Sebastian Schafer
    • , Leonardo Bottolo
    • , Norbert Hubner
    • , Costanza Emanueli
    • , Stuart A. Cook
    •  & Enrico Petretto
  • Article
    | Open Access

    Vascular remodelling contributes to the development of pulmonary hypertension (PH). Here Luo and colleagues find that increases in CD146 levels drive vascular remodelling in PH through a cross-talk with hypoxia inducible factor (HIF) signalling, and show that inhibition of CD146 can attenuate disease progression.

    • Yongting Luo
    • , Xiao Teng
    • , Lingling Zhang
    • , Jianan Chen
    • , Zheng Liu
    • , Xuehui Chen
    • , Shuai Zhao
    • , Sai Yang
    • , Jing Feng
    •  & Xiyun Yan
  • Article
    | Open Access

    Individuals carrying a gain-of-function mutation in PKG1 develop thoracic aortic aneurysms and dissections. Here Schwaerzer et al. show that mice carrying the same mutation recapitulate the human disease, and find that treatment with anti-oxidants including cobinamide, a vitamin B12 analog, prevents disease progression.

    • Gerburg K. Schwaerzer
    • , Hema Kalyanaraman
    • , Darren E. Casteel
    • , Nancy D. Dalton
    • , Yusu Gu
    • , Seunghoe Lee
    • , Shunhui Zhuang
    • , Nisreen Wahwah
    • , Jan M. Schilling
    • , Hemal H. Patel
    • , Qian Zhang
    • , Ayako Makino
    • , Dianna M. Milewicz
    • , Kirk L. Peterson
    • , Gerry R. Boss
    •  & Renate B. Pilz
  • Article
    | Open Access

    The availability of labelled training data is one of the practical obstacles towards wide application of machine learning models in medicine. Here the authors develop a weakly supervised deep learning model for the classification of aortic malformations using unlabelled cardiac MRI sequences from the UK biobank.

    • Jason A. Fries
    • , Paroma Varma
    • , Vincent S. Chen
    • , Ke Xiao
    • , Heliodoro Tejeda
    • , Priyanka Saha
    • , Jared Dunnmon
    • , Henry Chubb
    • , Shiraz Maskatia
    • , Madalina Fiterau
    • , Scott Delp
    • , Euan Ashley
    • , Christopher Ré
    •  & James R. Priest
  • Article
    | Open Access

    Bioengineering of small diameter vascular grafts that recapitulate the features of native vessels is extremely challenging. Here the authors present a combined dip-spinning and blow-spinning technology to fabricate multi-layered cell-embedded grafts with native mechanical properties.

    • Tamara L. Akentjew
    • , Claudia Terraza
    • , Cristian Suazo
    • , Jekaterina Maksimcuka
    • , Camila A. Wilkens
    • , Francisco Vargas
    • , Gabriela Zavala
    • , Macarena Ocaña
    • , Javier Enrione
    • , Claudio M. García-Herrera
    • , Loreto M. Valenzuela
    • , Jonny J. Blaker
    • , Maroun Khoury
    •  & Juan Pablo Acevedo