MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.,Genetics in Medicine

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MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2019-Jan-01 , DOI: 10.1038/s41436-018-0038-0
Stephanie E Wallace ₁ , Ellen S Regalado ₁ , Limin Gong ₁ , Alexandra L Janda ₁ , Dong-Chuan Guo ₁ , Claudio F Russo ₂ , Richard J Kulmacz ₁ , Nadine Hanna _{3,

4,

5} , Guillaume Jondeau _{4,

5} , Catherine Boileau _{3,

4,

5} , Pauline Arnaud _{3,

4,

5} , Kwanghyuk Lee ₆ , Suzanne M Leal ₆ , Matias Hannuksela ₇ , Bo Carlberg ₈ , Tami Johnston ₉ , Christian Antolik ₉ , Ellen M Hostetler ₁ , Roberto Colombo _{10,

11} , Dianna M Milewicz ₁

Affiliation

Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
Division of Cardiac Surgery, Niguarda Ca' Granda Metropolital Hospital, Milan, Italy.
Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.
Laboratory for Vascular Translational Science, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France.
Centre de Référence Maladies Rares Syndrome de Marfan et Pathologies Apparentées, Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.
Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Department of Surgical and Perioperative Sciences, Umeå University, Umeå, Sweden.
Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA.
Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University, IRCCS Policlinico "Agostino Gemelli", Rome, Italy.

Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLK missense variants are pathogenic and information to guide aortic disease management are limited.

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