Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.

No abstract is available for this paper.

• Publication year

  1995

• Venue

  Human Molecular Genetics

• Publication date

  1995-10-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/4.10.1859PMID 8595407
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

  1994cited by this paper
• Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

  1993cited by this paper
• Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: thermal RACE.

  1993cited by this paper
• Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.

  1993cited by this paper
• Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene.

  1992cited by this paper
• Compilation of vertebrate-encoded transcription factors

  1992cited by this paper
• Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.

  1991cited by this paper
• Emery-Dreifuss syndrome.

  1989cited by this paper
• X‐linked muscular dystrophy with early contractures and cardiomyopathy (Emery‐Dreifuss type)

  1987cited by this paper
• Unusual type of benign X linked muscular dystrophy

  1966cited by this paper

• Dilated Cardiomyopathy: A Genetic Journey from Past to Future

  2024cites this paper
• Research Progress of Pathogenic Genes Associated with Dilated Cardiomyopathy

  2023cites this paper
• Nuclear mechanosignaling in striated muscle diseases

  2023cites this paper
• A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

  2020cites this paper
• ANovelEMDMutation Identified byWhole-ExomeSequencing in Twins with Emery–Dreifuss Muscular Dystrophy

  2020cites this paper
• Emery‐Dreifuss muscular dystrophy

  2019cites this paper
• Unchain My Heart: Integrins at the Basis of iPSC Cardiomyocyte Differentiation

  2019cites this paper
• X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

  2019cites this paper
• Progress of Genetics in Inherited Cardiomyopathies-Induced Heart Failure

  2018cites this paper
• Generation and Analysis of Striated Muscle Selective LINC Complex Protein Mutant Mice.

  2018cites this paper
• Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy

  2018cites this paper
• Dilated cardiomyopathy.

  2017cites this paper
• Diseases of the Nucleoskeleton.

  2016cites this paper
• Mechanotransduction and nuclear function.

  2016cites this paper
• Role of structural flexibility in the evolution of emerin.

  2015cites this paper
• Molecular genetics and pathogenesis of cardiomyopathy

  2015cites this paper
• Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.

  2014cites this paper
• Emery-Dreifuss Muscular Dystrophy: Nuclear Envelopathies

  2014cites this paper
• On the role of prelamin A in the heart

  2014cites this paper
• Heterogeneous Immunoreactivity of Emerin, a Nuclear Envelope LEM-domain Protein, in Normal Thyroid Follicles

  2014cites this paper
• Proteins of the Nuclear Membrane and Matrix

  2013cites this paper
• Genetics of hypertrophic and dilated cardiomyopathy.

  2012cites this paper
• Facioscapulohumeral dystrophy and scapuloperoneal syndromes.

  2011cites this paper
• Genetics of Dilated Cardiomyopathy: Risk of Conduction Defects and Sudden Cardiac Death.

  2010cites this paper
• Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond

  2010cites this paper
• Diseases of the nuclear envelope.

  2010cites this paper
• The role of lamin A and emerin in mediating genome organisation

  2010cites this paper
• LINC complexes in health and disease

  2010cites this paper
• Molecular etiology and pathogenesis of hereditary cardiomyopathy.

  2008cites this paper
• Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy.

  2007cites this paper
• Multitissular involvement in a family with LMNA and EMD mutations

  2007cites this paper
• X-linked cardiomyopathy presenting as contracted endocardial fibroelastosis.

  2007cites this paper
• Inherited Disorders of the Neuromuscular Junction

  2006cites this paper
• Nuclear lamins: laminopathies and their role in premature ageing.

  2006influential citation
• Diagnostic Significance of Immunohistochemical Staining in Muscular Dystrophy.

  2006cites this paper
• High Incidence of Sudden Cardiac Death With Conduction Disturbances and Atrial Cardiomyopathy Caused by a Nonsense Mutation in the STA Gene

  2005cites this paper
• Limb girdle muscular dystrophy in the Hutterite population of North America

  2005cites this paper
• X‐linked Emery–Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

  2005cites this paper
• Emerin Caps the Pointed End of Actin Filaments: Evidence for an Actin Cortical Network at the Nuclear Inner Membrane

  2004cites this paper
• Emerin interacts in vitro with the splicing-associated factor, YT521-B.

  2003cites this paper
• Nuclear envelope proteins and neuromuscular diseases

  2003cites this paper
• Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.

  2003cites this paper
• A Case of Emery-Dreifuss Muscular Dystrophy by Emerin Gene Mutation

  2003cites this paper
• Cardiomyopathy and Atrioventricular Block in Emery-Dreifuss Muscular Dystrophy

  2002cites this paper
• Diagnosi genetica di cardiomiopatia dilatativa familiare

  2002cites this paper
• Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

  2002cites this paper
• The nuclear muscular dystrophies.

  2002cites this paper
• Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.

  2002cites this paper
• Muscular dystrophies, dilated cardiomyopathy, lipodystrophy and neuropathy: the nuclear connection

  2002cites this paper
• A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy.

  2001cites this paper
• Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy.

  2001cites this paper
• Novel mutations in the emerin gene in Israeli families

  2001cites this paper
• Mutation Analysis of X-Linked Emery-Dreifuss Muscular Dystrophy Gene

  2001cites this paper
• Nuclear envelope proteins and associated diseases

  2000cites this paper
• Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

  2000cites this paper
• Molecular basis of muscular dystrophies

  2000cites this paper
• Emerin expression at the early stages of myogenic differentiation.

  2000cites this paper
• FHCM as a Paradigm for Elucidating the Left Ventricular Hypertrophic Growth Response to Physiological and Pathological Stimuli

  2000cites this paper
• Emerin presence in platelets

  2000cites this paper
• Myocardial diseases.

  2000cites this paper
• Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.

  2000cites this paper
• Mutation analysis in Emery-Dreifuss muscular dystrophy.

  1999influential citation
• The muscular dystrophies.

  1999cites this paper
• Emery-Dreifuss Muscular Dystrophy

  1999cites this paper
• Distribution of emerin during the cell cycle.

  1999cites this paper
• A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations.

  1999cites this paper
• Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

  1999influential citation
• Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy.

  1999cites this paper
• Muscular dystrophies: alterations in a limited number of cellular pathways?

  1999cites this paper
• Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein.

  1999cites this paper
• Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers.

  1998cites this paper
• Emerin deletions occurring on both Xq28 inversion backgrounds.

  1998cites this paper
• Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.

  1998cites this paper
• Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype.

  1998cites this paper
• Presence of emerinopathy in cases of rigid spine syndrome.

  1998cites this paper
• Isolation and characterization of the complete mouse emerin gene

  1997cites this paper
• Emery-Dreifuss syndrome.

  1997cites this paper
• Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane

  1997influential citation
• Gene table: the muscular dystrophies.

  1997cites this paper
• Dystrophies and heart disease.

  1997cites this paper
• Patología del corazón de origen extracardíaco (III) Repercusión cardíaca de las enfermedades neuromusculares

  1997cites this paper
• Repercusión cardíaca de las enfermedades neuromusculares

  1997cites this paper
• Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis.

  1997cites this paper
• Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.

  1997cites this paper
• Six novel mutations in the emerin gene causing X‐linked Emery‐Dreifuss muscular dystrophy

  1997cites this paper
• Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

  1997cites this paper
• [Cardiac involvement in neuromuscular diseases].

  1997cites this paper
• A japanese family carrying a novel mutation in the emery‐dreifuss muscular dystrophy gene

  1997cites this paper
• 43rd ENMC International Workshop on Emery-Dreifuss Muscular Dystrophy, 22 June 1996, Naarden, The Netherlands.

  1997cites this paper
• X‐linked emery‐dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

  1997cites this paper
• Emerin deficiency at the nuclear membrane in patients with Emery-Dreif uss muscular dystrophy

  1996cites this paper
• A novel X-linked gene, G4.5. is responsible for Barth syndrome

  1996cites this paper
• A Nmlv Recomized Autosomal Dominant Li.mb'Girde"Muscdar Dystrophy with Cardiac Involvement

  1996cites this paper
• A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement

  1996cites this paper
• SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.

  1995cites this paper
• Lexikon der Syndrome und Fehlbildungen

  1995cites this paper