*  Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular...
... cell lines established from four patients with Emery-Dreifuss muscular dystrophy containing different mutations in the emerin ... The product of the X-linked Emery-Dreifuss muscular dystrophy gene is a protein called emerin, which is localized to the ... intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy ... intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy ...
  http://jcs.biologists.org/content/111/6/781
*  Congenital Muscle Disease Study of Patient and Family Reported Medical Information - Full Text View - ClinicalTrials.gov
Choline Kinase B Receptor Emery-Dreifuss Muscular Dystrophy (EDMD, LGMD1B, LMNA, Emerin, FHL1, SYNE1, SYNE2, TMEM43) LAMA2 ... Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord. ... Emery-Dreifuss Muscular Dystrophy RYR1 Related Myopathy SYNE1/Nesprin Related Muscular Dystrophy Telethonin Related Muscular ... LMNA Related Muscular Dystrophy (Laminopathy/LaminA/C, L-CMD, Emery Dreifuss muscular dystrophy) RYR1 Related Myopathy (with ...
  https://clinicaltrials.gov/ct2/show/study/NCT01403402
*  Emery-Dreifuss muscular dystrophy - Wikipedia
"Mutations in Emery-Dreifuss Muscular Dystrophy and their Effects on Emerin Protein Expression". Human Molecular Genetics. 7 (5 ... Emery-Dreifuss Muscular Dystrophy. Seattle (WA): University of Washington, Seattle. PMID 20301609. update 2015 "Emery-Dreifuss ... ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy#inheritance Emery AE, Dreifuss FE (1966). "Unusual type of benign x ... Mutations in the EMD, LMNA, and several other genes cause the various types of Emery-Dreifuss muscular dystrophy. The EMD and ...
  https://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy
*  Emerin - Wikipedia
Mutations in emerin cause X-linked recessive Emery-Dreifuss muscular dystrophy, which is characterized by early contractures in ... Mutations in emerin cause X-linked recessive Emery-Dreifuss muscular dystrophy, cardiac conduction abnormalities and dilated ... Yamada T, Kobayashi T (1996). "A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy". Hum. ... Emery-Dreifuss muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the EMD (also known ...
  https://en.wikipedia.org/wiki/Emerin
*  Inner nuclear membrane protein - Wikipedia
Mutations in the gene EDM, encoding the INM protein emerin may be the cause of X-linked Emery-Dreifuss muscular dystrophy. As ... mutations in lamins cause the autosomal dominant form of Emery-Dreifuss muscular dystrophy, and lamins and emerin are known to ... Mutations in the gene LBR, encoding lamin B receptor, causes Pelger-Hüet anomaly. Tumor cells often show an aberrant nuclear ... 2002). "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët ...
  https://en.wikipedia.org/wiki/Inner_nuclear_membrane_protein
*  BCLAF1 - Wikipedia
... is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy". Eur. J. Biochem. 271 (5): 1035-45. doi: ... Mansharamani M, Wilson KL (2005). "Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding ... 2004). "Emerin binding to Btf, a death-promoting transcriptional repressor, ...
  https://en.wikipedia.org/wiki/BCLAF1
*  Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple...
... and search for these mutations has an important place in diagnostic strategies. In recent years, CGH method using custom- ... referred to as copy-number mutations, CNMs) varies among genes, ... Emery-Dreifuss muscular dystrophy and their effects on emerin ... Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by ... of known CFTR mutations and are searched for in patients heterozygous for point mutations in CFTR.4 ...
  http://www.biomedsearch.com/nih/Custom-oligonucleotide-array-based-CGH/23340513.html
*  Laminopathy - Wikipedia
... with certain mutations in lamin mimicking mutations in emerin and causing Emery-Dreifuss muscular dystrophy. Different ... in human populations is Emery-Dreifuss muscular dystrophy caused by an X-linked mutation in the EMD gene coding for emerin and ... Manilal S, Nguyen TM, Sewry CA, Morris GE (1996). "The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane ... "Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy". Nature Genetics. 21 (3): ...
  https://en.wikipedia.org/wiki/Laminopathy
*  Emerin Antibody 10351-1-AP | Proteintech
Emerin Antibody 10351-1-AP has been identified with ELISA, FC, IF, IP, WB. 10351-1-AP detected 35 kDa band in HeLa cells with 1 ... Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. ... Emerin (Emery-Dreifuss muscular dystrophy) (EMD or EDMD), a serine-rich nuclear membrane protein, is a member of the nuclear ... Defects in EMD gene are the cause of Emery-Dreifuss muscular dystrophy type 1 (EDMD1), a degenerative myopathy characterized by ...
  https://www.ptglab.com/Products/EMD-Antibody-10351-1-AP.htm
*  Pamela Geyer | Department of Biochemistry
For example, mutations in the genes that encode emerin and MAN1 cause Emery-Dreifuss Muscular Dystrophy and Buschke-Ollendorf ... 1-2. Mutation research. PMID: 18983859.. Pinto, B. S., Wilmington, S. R., Hornick, E. E., Wallrath, L. L. & Geyer, P. K. (2008 ... Geyer, P. K., Chien, A. J., Corces, V. G. & Green, M. M. (1991). Mutations in the su(s) gene affect RNA processing in ... Geyer, P. K., Green, M. M. & Corces, V. G. (1988). Reversion of a gypsy-induced mutation at the yellow (y) locus of Drosophila ...
  https://medicine.uiowa.edu/biochemistry/node/1711
*  Emery-Dreifuss muscular dystrophy
The muscular dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes ... Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G,A ... The muscular dystrophies. Continuum (Minneap Minn) 2013; 19:1535.. *Emery AE. Emery-Dreifuss muscular dystrophy - a 40 year ... Emery-Dreifuss muscular dystrophy (EDMD), also known as humeroperoneal muscular dystrophy, can be inherited as an X-linked ...
  https://www.uptodate.com/contents/emery-dreifuss-muscular-dystrophy
*  Muscular dystrophy | Journal of Cell Science
Highlighted Article: Worms expressing the L535P Emery-Dreifuss muscular dystrophy lamin mutation show muscle phenotypes and ... muscle-specific abnormal responses to mechanical strain, which depend on emerin and UNC-84, and are rescued by loss of ... Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells Alexandros ... Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy Julia Hofhuis, Kristina Bersch, ...
  http://jcs.biologists.org/keyword/muscular-dystrophy
*  JoVE | Peer Reviewed Scientific Video Journal - Methods and Protocols
Variants in the emerin gene (EMD) were implicated in X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD), characterized ... To date, 223 mutations have been reported in EMD gene and the majority of them caused a predominant skeletal muscular phenotype ... In this study, we identified a novel deletion mutation in EMD exon 1, which results in almost a complete loss of emerin protein ... In contrast, these mutations reduced competitive ability under carbon limitation, and thus reveal a conflicting metabolic ...
  https://www.jove.com/visualize?author=Feng+Fu
*  nucleus facts, information, pictures | Encyclopedia.com articles about nucleus
In humans, other lamin mutations cause several rare, inherited diseases, including Emery-Dreifuss muscular dystrophy, an ... The loss of emerin, a membrane protein that binds lamins A/C, causes the X-linked recessive form of Emery-Dreifuss muscular ... the autosomal dominant form of Emery-Dreifuss muscular dystrophy; dilated cardiomyopathy with conduction system disease; or ... Wilson, Katherine L. "The Nuclear Envelope, Muscular Dystrophy, and Gene Expression." Trends in Cell Biology 10 (2000): 125-129 ...
  https://www.encyclopedia.com/science-and-technology/physics/physics/nucleus
*  Protocols and Video Articles Authored by Yi-Wen Chen (Translated to Dutch)
... neuropathies and autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD). EDMD is also caused by X-linked recessive loss-of ... One model for disease pathogenesis of LMNA and emerin mutations is cell-specific perturbations of the mRNA transcriptome in ... EDMD emerin) were highly related disorders and were also related to fascioscapulohumeral muscular dystrophy (FSHD). FSHD has ... In the mouse model (mdx) of Duchenne Muscular Dystrophy, IL-6 and muscle inflammation are elevated, which is believed to ...
  https://www.jove.com/author/Yi-Wen_Chen?language=Dutch
*  Single Gene Diagnostics | VCGS
Mutations in the Emerin (EMD) and Lamin (LMNA) genes cause of X-linked and autosomal dominant Emery-Dreifuss muscular dystrophy ... Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart ( ... Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are types of neuromuscular disorders that affect the ... Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, ...
  https://www.vcgs.org.au/tests/single-gene-diagnostics
*  A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia | IOVS | ARVO Journals
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope ... with emerin localized evenly throughout the nuclear envelope (Fig. 2D). In contrast, nuclei in emerin-labeled homozygous Syne2 ... 5 Functional defects in SYNE2 in humans lead to development of Emery-Dreifuss muscular dystrophy as well as dilated ... The mutation arose on a B6.129S7-Ifngr1tm1Agt/J background but did not cosegregate with the targeted mutation, suggesting that ...
  http://iovs.arvojournals.org/article.aspx?articleid=2323619
*  30 seconds binary options brokers
18-20 Loss of emerin or autosomal dominant mutations in the human LMNA gene cause Emery Dreifuss muscular dystrophy (EDMD), but ...
  http://imbc-med.ru/30-seconds-binary-options-brokers-4.html
*  Cytogenetics sub-cluster 37
Mutations in emerin cause X-linked recessive Emery-Dreifuss muscular dystrophy. Emerin and MAN1 ... ... merosin-deficient congenital muscular dystrophy on chromosome 6q2, Fukuyama congenital muscular dystrophy on chromosome 9q31, ... New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and ... ... Epidermolysis bullosa simplex with muscular dystrophy (OMIM 226670) is an autosomal recessive disorder caused by mutations of ...
  http://www.biomedsearch.com/cluster/35/Cytogenetics/sub-37-p3.html
*  Most recent papers with the keyword Lamin associated domain | Read by QxMD
Mutations in nesprin-1/2 have been found in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) as well ... Since the identification of the first disease causing mutation in the gene coding for emerin, a transmembrane protein of the ... Mutations in nesprin-1/2 have previously been found in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD ... interacts with Lamin A/C and the INM protein Emerin, which has a chromatin binding LEM (Lap2-Emerin-Man1)-domain... ...
  https://www.readbyqxmd.com/keyword/38867
*  Beta-catenin - Wikipedia
"Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy". Human Molecular Genetics. 6 (13): ... Similar mutations are also frequently seen in the β-catenin recruiting motifs of APC. Hereditary loss-of-function mutations of ... Most of these mutations cluster on a tiny area of the N-terminal segment of β-catenin: the β-TrCP binding motif. Loss-of- ... Somatic mutations of APC in colorectal cancer are also not uncommon. Beta-catenin and APC are among the key genes (together ...
  https://en.wikipedia.org/wiki/Beta-catenin
*  Emery-Dreifuss Muscular Dystrophy (EDMD) | Syndromes: Rapid Recognition and Perioperative Implications | AccessAnesthesiology |...
Two forms of EDMD exist: (1) X-linked, resulting from a mutation in the emerin gene (>100 mutations have been reported and ... "Emery-Dreifuss Muscular Dystrophy (EDMD)." Syndromes: Rapid Recognition and Perioperative Implications Bissonnette B, ... Emery-Dreifuss Muscular Dystrophy (EDMD). In: Bissonnette B, Luginbuehl I, Marciniak B, Dalens BJ. Bissonnette B, Luginbuehl I ... Almost all known mutations result in a complete absence of emerin, an inner nuclear membrane protein not limited to muscle ...
  http://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517528
*  TMEM43 - Wikipedia
"OMIM Entry #614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7". omim.org. Retrieved 29 August 2017. ... Required for retaining emerin at the inner nuclear membrane. However, the localization of TMEM43 in myocardial tissue is ... Mutations in TMEM43 are associated with ARVD and EDMD7. GRCh38: Ensembl release 89: ENSG00000170876 - Ensembl, May 2017 GRCm38 ... Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH (September 2011). "Mutation analysis and evaluation of ...
  https://en.wikipedia.org/wiki/TMEM43
*  Mechanosensing by the nucleus: From pathways to scaling relationships | JCB
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. 21:285-288. ... Mutation of these residues abolished the stiffening effect, indicating the importance of these phosphosites for emerin ... Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat. Genet. 8:323-327. doi:10.1038/ ... Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope ...
  http://jcb.rupress.org/content/early/2017/01/01/jcb.201610042
*  The inner nuclear envelope as a transcription factor resting place | EMBO Reports
... is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Eur J Biochem 271: 1035-1045. ... The single spanning INM protein emerin is encoded by the EMD gene, which, when mutated, produces the X‐linked form of Emery- ... Dreifuss muscular dystrophy (EDMD; Gruenbaum et al, 2005). The lamin‐associated protein LAP2β was originally identified as a ... Haraguchi T, Holaska JM, Yamane M, Koujin T, Hashiguchi N, Mori C, Wilson KL, Hiraoka Y (2004) Emerin binding to Btf, a death‐ ...
  http://embor.embopress.org/content/8/10/914