emerin and Genetic-Diseases--Inborn

emerin has been researched along with Genetic-Diseases--Inborn* in 3 studies

Reviews

2 review(s) available for emerin and Genetic-Diseases--Inborn

Article	Year
[Nuclear envelopathies]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 2006, Volume: 51, Issue:14 Suppl Topics: Animals; DNA-Binding Proteins; Genetic Diseases, Inborn; Humans; Lamin B Receptor; Lamin Type A; Membrane Proteins; Mutation; Nuclear Envelope; Nuclear Proteins; Receptors, Cytoplasmic and Nuclear	2006
The nuclear lamins and the nuclear envelope. Cellular & molecular biology letters, 2002, Volume: 7, Issue:4 The cell nucleus is separated from the rest of the cell by the nuclear envelope. The nuclear envelope, nuclear envelope proteins and nuclear lamina organise the structure of the entire nucleus and the chromatin via a myriad of interactions. These interactions are dynamic, change with the change (progress) of the cell cycle, with cell differentiation and with changes in cell physiology. Topics: Animals; Cell Nucleus; Genetic Diseases, Inborn; Humans; Lamins; Membrane Proteins; Nuclear Envelope; Nuclear Lamina; Nuclear Proteins; Thymopoietins	2002

Article

Year

Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 2006, Volume: 51, Issue:14 Suppl

Topics: Animals; DNA-Binding Proteins; Genetic Diseases, Inborn; Humans; Lamin B Receptor; Lamin Type A; Membrane Proteins; Mutation; Nuclear Envelope; Nuclear Proteins; Receptors, Cytoplasmic and Nuclear

2006

The nuclear lamins and the nuclear envelope.

Cellular & molecular biology letters, 2002, Volume: 7, Issue:4

The cell nucleus is separated from the rest of the cell by the nuclear envelope. The nuclear envelope, nuclear envelope proteins and nuclear lamina organise the structure of the entire nucleus and the chromatin via a myriad of interactions. These interactions are dynamic, change with the change (progress) of the cell cycle, with cell differentiation and with changes in cell physiology.

Topics: Animals; Cell Nucleus; Genetic Diseases, Inborn; Humans; Lamins; Membrane Proteins; Nuclear Envelope; Nuclear Lamina; Nuclear Proteins; Thymopoietins

2002

Other Studies

1 other study(ies) available for emerin and Genetic-Diseases--Inborn

Article	Year
Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction. Circulation. Arrhythmia and electrophysiology, 2020, Volume: 13, Issue:10 Mutations in the nuclear envelope genes encoding. Targeted exon sequencing was performed in 87 probands with familial sick sinus syndrome (n=36) and a progressive cardiac conduction defect (n=51).. We identified 3 X-linked recessive. Cardiac emerinopathy is a novel nonsyndromic X-linked progressive atrial standstill associated with LVNC and increased risk of thromboembolism. Topics: Adolescent; Adult; Aged; Cardiac Conduction System Disease; Cardiomyopathies; Child; Female; Genetic Diseases, Inborn; Genetic Predisposition to Disease; Heart Atria; Heart Block; Humans; Isolated Noncompaction of the Ventricular Myocardium; Male; Membrane Proteins; Middle Aged; Mutation; Nuclear Proteins; Phenotype; Sick Sinus Syndrome; Stroke; Thromboembolism; X-Linked Emery-Dreifuss Muscular Dystrophy; Young Adult	2020

Article

Year

Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction.

Circulation. Arrhythmia and electrophysiology, 2020, Volume: 13, Issue:10

Mutations in the nuclear envelope genes encoding. Targeted exon sequencing was performed in 87 probands with familial sick sinus syndrome (n=36) and a progressive cardiac conduction defect (n=51).. We identified 3 X-linked recessive. Cardiac emerinopathy is a novel nonsyndromic X-linked progressive atrial standstill associated with LVNC and increased risk of thromboembolism.

Topics: Adolescent; Adult; Aged; Cardiac Conduction System Disease; Cardiomyopathies; Child; Female; Genetic Diseases, Inborn; Genetic Predisposition to Disease; Heart Atria; Heart Block; Humans; Isolated Noncompaction of the Ventricular Myocardium; Male; Membrane Proteins; Middle Aged; Mutation; Nuclear Proteins; Phenotype; Sick Sinus Syndrome; Stroke; Thromboembolism; X-Linked Emery-Dreifuss Muscular Dystrophy; Young Adult

2020