Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

[1]  J. Shendure,et al.  CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores , 2021, Genome Medicine.

[2]  D. Nickerson,et al.  Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. , 2019, Birth defects research.

[3]  Robert H. Anderson,et al.  Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease? , 2019, Journal of cardiovascular development and disease.

[4]  W. Chung,et al.  De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders , 2018, PLoS genetics.

[5]  Lisa J. Martin,et al.  The Genetic Landscape of Hypoplastic Left Heart Syndrome , 2018, Pediatric Cardiology.

[6]  A. Firulli,et al.  The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice , 2017, Cardiovascular research.

[7]  James T. Robinson,et al.  Variant Review with the Integrative Genomics Viewer. , 2017, Cancer research.

[8]  Alexander Hanbo Li,et al.  Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns , 2017, Genome Medicine.

[9]  Yufeng Shen,et al.  Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands , 2017, Nature Genetics.

[10]  M. Pickett,et al.  Acetylcholinesterase plays a non-neuronal, non-esterase role in organogenesis , 2017, Journal of Cell Science.

[11]  D. Barron,et al.  Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective , 2017, Orphanet Journal of Rare Diseases.

[12]  Robert H. Anderson,et al.  Familial co-occurrence of congenital heart defects follows distinct patterns , 2017, European heart journal.

[13]  Lorenzo D Botto,et al.  Etiology and clinical presentation of birth defects: population based study , 2017, British Medical Journal.

[14]  Simon Watkins,et al.  The complex genetics of hypoplastic left heart syndrome , 2017, Nature Genetics.

[15]  M. Levin,et al.  Coordinating heart morphogenesis: A novel role for hyperpolarization-activated cyclic nucleotide-gated (HCN) channels during cardiogenesis in Xenopus laevis , 2017, Communicative & integrative biology.

[16]  P. Simpson,et al.  Impact of MYH6 variants in hypoplastic left heart syndrome , 2016, Physiological genomics.

[17]  Kevin A. Burns,et al.  Genome evolution in the allotetraploid frog Xenopus laevis , 2016, Nature.

[18]  Brent S. Pedersen,et al.  Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy , 2016, bioRxiv.

[19]  Tomas W. Fitzgerald,et al.  Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing , 2016, Nature Genetics.

[20]  Bruce S Weir,et al.  Model-free Estimation of Recent Genetic Relatedness. , 2016, American journal of human genetics.

[21]  Stephan J Sanders,et al.  De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies , 2015, Science.

[22]  A. Olshan,et al.  The National Birth Defects Prevention Study: A review of the methods. , 2015, Birth defects research. Part A, Clinical and molecular teratology.

[23]  J. Tolmie,et al.  Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies , 2015, Circulation. Cardiovascular genetics.

[24]  Eric D Wieben,et al.  Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction , 2015, Circulation. Cardiovascular genetics.

[25]  Timothy J. Nelson,et al.  Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome , 2015, Human Genetics.

[26]  Gonçalo R. Abecasis,et al.  Unified representation of genetic variants , 2015, Bioinform..

[27]  H. Araujo,et al.  A conserved role for calpains during myoblast fusion , 2015, Genesis.

[28]  J. Shendure,et al.  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. , 2015, American journal of human genetics.

[29]  Carson C Chow,et al.  Second-generation PLINK: rising to the challenge of larger and richer datasets , 2014, GigaScience.

[30]  Yufeng Shen,et al.  Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data , 2014, Circulation research.

[31]  P. Skourides,et al.  Calpain2 protease: A new member of the Wnt/Ca(2+) pathway modulating convergent extension movements in Xenopus. , 2013, Developmental biology.

[32]  Aaron R. Quinlan,et al.  GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations , 2013, PLoS Comput. Biol..

[33]  U. Schneider,et al.  Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation , 2012, Prenatal diagnosis.

[34]  M. Rieder,et al.  Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. , 2012, American journal of human genetics.

[35]  Sandeep Kumar,et al.  High glucose-induced Ca2+ overload and oxidative stress contribute to apoptosis of cardiac cells through mitochondrial dependent and independent pathways. , 2012, Biochimica et biophysica acta.

[36]  Bradley P. Coe,et al.  Copy number variation detection and genotyping from exome sequence data , 2012, Genome research.

[37]  M. Digilio,et al.  Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. , 2012, American journal of human genetics.

[38]  A. Chishti,et al.  Vital Role of the Calpain-Calpastatin System for Placental-Integrity-Dependent Embryonic Survival , 2011, Molecular and Cellular Biology.

[39]  R. Kirby,et al.  Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. , 2010, Birth defects research. Part A, Clinical and molecular teratology.

[40]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[41]  Emily H Turner,et al.  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.

[42]  H. Kasiganesan,et al.  Lack of β3 Integrin Signaling Contributes to Calpain-Mediated Myocardial Cell Loss in Pressure-Overloaded Myocardium , 2010, Journal of cardiovascular pharmacology.

[43]  A. Huttenlocher,et al.  Regulation of Adhesion Dynamics by Calpain-mediated Proteolysis of Focal Adhesion Kinase (FAK)* , 2010, The Journal of Biological Chemistry.

[44]  M. Kühl,et al.  Comparative gene expression analysis and fate mapping studies suggest an early segregation of cardiogenic lineages in Xenopus laevis. , 2009, Developmental biology.

[45]  S. Browning,et al.  A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic , 2009, PLoS genetics.

[46]  Lilah M. Besser,et al.  Diabetes mellitus and birth defects. , 2008, American journal of obstetrics and gynecology.

[47]  Tae Joo Park,et al.  Whole-mount fluorescence immunocytochemistry on Xenopus embryos. , 2008, CSH protocols.

[48]  P. Flevaris,et al.  A molecular switch that controls cell spreading and retraction , 2007, The Journal of cell biology.

[49]  Lisa J. Martin,et al.  Hypoplastic left heart syndrome is heritable. , 2007, Journal of the American College of Cardiology.

[50]  Lorenzo D Botto,et al.  Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies. , 2007, Birth defects research. Part A, Clinical and molecular teratology.

[51]  D. Allen,et al.  High glucose initiates calpain-induced necrosis before apoptosis in LLC-PK1 cells. , 2007, Kidney international.

[52]  Bernard Guyer,et al.  Annual Summary of Vital Statistics: 2004 , 2006, Pediatrics.

[53]  S. Leal,et al.  Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability , 2005, American journal of medical genetics. Part A.

[54]  Arnold Munnich,et al.  Mutation in myosin heavy chain 6 causes atrial septal defect , 2005, Nature Genetics.

[55]  S. Franco,et al.  Isoform specific function of calpain 2 in regulating membrane protrusion. , 2004, Experimental cell research.

[56]  S. Dedieu,et al.  Myoblast migration is prevented by a calpain‐dependent accumulation of MARCKS , 2003, Biology of the cell.

[57]  D. Elliott,et al.  Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. , 2003, Journal of the American College of Cardiology.

[58]  S. Rasmussen,et al.  Guidelines for case classification for the National Birth Defects Prevention Study. , 2003, Birth defects research. Part A, Clinical and molecular teratology.

[59]  J. Fox,et al.  Calpain Cleaves RhoA Generating a Dominant-negative Form That Inhibits Integrin-induced Actin Filament Assembly and Cell Spreading* , 2002, The Journal of Biological Chemistry.

[60]  L. Bailey,et al.  Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). , 2001, Mutation research.

[61]  M. Digilio,et al.  Congenital heart defects in Kabuki syndrome. , 2001, American journal of medical genetics.

[62]  Xiaoping Du,et al.  Evidence That β3 Integrin-Induced Rac Activation Involves the Calpain-Dependent Formation of Integrin Clusters That Are Distinct from the Focal Complexes and Focal Adhesions That Form as Rac and Rhoa Become Active , 2000, The Journal of cell biology.

[63]  A. Rosano,et al.  Infant mortality and congenital anomalies from 1950 to 1994: an international perspective , 2000, Journal of epidemiology and community health.

[64]  M J Khoury,et al.  Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study. , 1997, Archives of pediatrics & adolescent medicine.

[65]  S. Barnoy,et al.  Calpain and calpastatin in myoblast differentiation and fusion: effects of inhibitors. , 1997, Biochimica et biophysica acta.

[66]  N. Forsberg,et al.  Gene expression of calpains and their specific endogenous inhibitor, calpastatin, in skeletal muscle of fed and fasted rabbits. , 1992, The Biochemical journal.

[67]  M. Khoury,et al.  Diabetes mellitus during pregnancy and the risks for specific birth defects: a population-based case-control study. , 1990, Pediatrics.

[68]  J. Boughman,et al.  Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome. , 1989, American journal of diseases of children.

[69]  H. Kawasaki,et al.  Molecular cloning of the cDNA for the large subunit of the high-Ca2+-requiring form of human Ca2+-activated neutral protease. , 1988, Biochemistry.

[70]  M. Beckerle,et al.  Colocalization of calcium-dependent protease II and one of its substrates at sites of cell adhesion , 1987, Cell.

[71]  S. Moody.  Fates of the blastomeres of the 32-cell-stage Xenopus embryo. , 1987, Developmental biology.

[72]  Update on overall prevalence of major birth defects--Atlanta, Georgia, 1978-2005. , 2008, MMWR. Morbidity and mortality weekly report.

[73]  K. Chébli,et al.  Calpain 2 expression pattern and sub-cellular localization during mouse embryogenesis. , 2008, The International journal of developmental biology.

[74]  Claude-Alain H. Roten,et al.  Theoretical and practical advances in genome halving , 2004 .

[75]  S. Dedieu,et al.  Myoblast migration is regulated by calpain through its involvement in cell attachment and cytoskeletal organization. , 2004, Experimental cell research.

[76]  幸子 田中,et al.  ラット呼吸筋におけるMyosin Heavy Chainの分析 , 2004 .

[77]  R. Harland,et al.  Early development of Xenopus laevis : a laboratory manual , 2000 .