Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

In-Silico Modeling of the Functional Role of Reduced Sialylation in Sodium and Potassium Channel Gating of Mouse Ventricular Myocytes

(2018) Dongping Du et al.   IEEE Journal of Biomedical and Health Informatics

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

(2017) D. Marques-da-Silva et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MiR30‐GALNT1/2 Axis‐Mediated Glycosylation Contributes to the Increased Secretion of Inactive Human Prohormone for Brain Natriuretic Peptide (proBNP) From Failing Hearts

(2017) Yasuaki Nakagawa et al.   Journal of the American Heart Association

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

(2016) Florian Job et al.   BMC Medical Genetics

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

(2016) Anas M. Alazami et al.   HUMAN GENETICS

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

(2016) Aideen M. McInerney-Leo et al.   HUMAN MUTATION

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

(2016) Fulya Taylan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Heart transplantation in a child with congenital disorder of glycosylation

(2016) Jakob Klcovansky et al.   JOURNAL OF HEART AND LUNG TRANSPLANTATION

Immunological aspects of congenital disorders of glycosylation (CDG): a review

(2016) Maria Monticelli et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

(2016) Sunnie Yan-Wai Wong et al.   JOURNAL OF PEDIATRICS

Aberrant Glycosylation in the Left Ventricle and Plasma of Rats with Cardiac Hypertrophy and Heart Failure

(2016) Chiaki Nagai-Okatani et al.   PLoS One

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

(2015) Craig F. Munns et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A recurrent germline mutation in thePIGAgene causes Simpson-Golabi-Behmel syndrome type 2

(2015) Christine Fauth et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

(2015) Leah Fleming et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A homozygousB3GAT3mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

(2015) Kelly L. Jones et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Peters Plus Syndrome Mutations Disrupt a Noncanonical ER Quality-Control Mechanism

(2015) Deepika Vasudevan et al.   CURRENT BIOLOGY

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

(2015) Emma Tham et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

(2015) Christina Lam et al.   MOLECULAR GENETICS AND METABOLISM

The genotypic and phenotypic spectrum of PIGA deficiency

(2015) Maja Tarailo-Graovac et al.   Orphanet Journal of Rare Diseases

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family withB3GAT3mutation and expansion of the phenotype

(2014) Julia E. von Oettingen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function

(2014) Deniz Baycin-Hizal et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Post-translational modifications enhance NT-proBNP and BNP production in acute decompensated heart failure

(2014) Nicolas Vodovar et al.   EUROPEAN HEART JOURNAL

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

(2014) P.D. Brady et al.   European Journal of Medical Genetics

Reduced Sialylation Impacts Ventricular Repolarization by Modulating Specific K+Channel Isoforms Distinctly

(2014) Andrew R. Ednie et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

(2014) Mitsuko Nakashima et al.   NEUROGENETICS

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

(2014) Laura C. Tegtmeyer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Perinatal and early infantile symptoms in congenital disorders of glycosylation

(2013) Simone Funke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NovelB3GALTLmutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

(2013) E. Weh et al.   CLINICAL GENETICS

Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I

(2013) Kieren G. Hollingsworth et al.   EUROPEAN JOURNAL OF HEART FAILURE

Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy

(2013) Hugo R Martinez et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ALG1-CDG: A new case with early fatal outcome

(2013) A.-K. Rohlfing et al.   GENE

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations inPIGT

(2013) Malin Kvarnung et al.   JOURNAL OF MEDICAL GENETICS

Expression of the sialyltransferase, ST3Gal4, impacts cardiac voltage-gated sodium channel activity, refractory period and ventricular conduction

(2013) Andrew R. Ednie et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

(2013) Michelle T. Lieu et al.   MOLECULAR GENETICS AND METABOLISM

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan

(2013) Wen-Chen Liang et al.   NEUROMUSCULAR DISORDERS

MAN1B1 Deficiency: An Unexpected CDG-II

(2013) Daisy Rymen et al.   PLoS Genetics

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

(2012) Luca Bello et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SRD5A3-CDG: A patient with a novel mutation

(2012) C.S. Kasapkara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

(2012) Livia Kapusta et al.   HEART FAILURE REVIEWS

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

(2012) M. Pane et al.   NEUROMUSCULAR DISORDERS

Hypertrophic Cardiomyopathy With Cardiac Rupture and Tamponade Caused by Congenital Disorder of Glycosylation Type Ia

(2012) Laura I. Rudaks et al.   PEDIATRIC CARDIOLOGY

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

(2011) Sevjidmaa Baasanjav et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Glycosylation of purified buffalo heart galectin-1 plays crucial role in maintaining its structural and functional integrity

(2011) G. M. Ashraf et al.   BIOCHEMISTRY-MOSCOW

The proteoglycan–dystrophin complex in genetic cardiomyopathies—lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I)

(2011) Ali Yilmaz et al.   Clinical Research in Cardiology

Mouse models for congenital disorders of glycosylation

(2011) Christian Thiel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

(2011) Vincent Cantagrel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

(2011) S. Allali et al.   JOURNAL OF MEDICAL GENETICS

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

(2011) Flavio Faletra et al.   OPHTHALMIC GENETICS

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

(2011) Dirk J. Lefeber et al.   PLoS Genetics

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

(2010) Vincent Cantagrel et al.   CELL

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

(2010) Mohammed Al-Owain et al.   Orphanet Journal of Rare Diseases

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

(2009) Dirk J. Lefeber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

(2009) Chad R. Haldeman-Englert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy

(2009) T. Arimura et al.   CARDIOVASCULAR RESEARCH

NovelB3GALTLmutation in Peters-plus Syndrome

(2009) J Dassie-Ajdid et al.   CLINICAL GENETICS

A new mutation in COG7 extends the spectrum of COG subunit deficiencies

(2009) Renate Zeevaert et al.   European Journal of Medical Genetics

Prenatal Cardiac Ultrasound Finding in Congenital Disorder of Glycosylation Type 1a

(2009) A. Malhotra et al.   FETAL DIAGNOSIS AND THERAPY

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient

(2009) W. Vleugels et al.   GLYCOBIOLOGY

Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation

(2009) M. K. Thong et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A new case of ALG8 deficiency (CDG Ih)

(2009) K. Vesela et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

(2009) S Romano et al.   JOURNAL OF MEDICAL GENETICS

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients

(2009) H Bourteel et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I

(2009) Marta Margeta et al.   MUSCLE & NERVE

Regulated and aberrant glycosylation modulate cardiac electrical signaling

(2009) M. L. Montpetit et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation analysis ofB3GALTLin Peters Plus syndrome

(2008) Linda M. Reis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

(2008) D. Coman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

(2008) L. Al-Gazali et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy

(2008) Marie-Louise Sveen et al.   ARCHIVES OF NEUROLOGY

Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia

(2008) Gerben Truin et al.   MOLECULAR GENETICS AND METABOLISM

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

(2008) Carine Le Goff et al.   NATURE GENETICS

Cardiac assessment of limb–girdle muscular dystrophy 2I patients: An echography, Holter ECG and magnetic resonance imaging study

(2008) Karim Wahbi et al.   NEUROMUSCULAR DISORDERS

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

(2008) Adele D’Amico et al.   NEUROMUSCULAR DISORDERS

Variable Cardiac Involvement in Tunisian Siblings Harboring FKRP Gene Mutations

(2008) M. Kefi et al.   NEUROPEDIATRICS