keyword
MENU ▼
Read by QxMD icon Read
search

Emery dreifuss

keyword
https://www.readbyqxmd.com/read/28069046/occurrence-of-emery-dreifuss-muscular-dystrophy-in-a-rural-setting-of-cameroon-a-case-report-and-review-of-the-literature
#1
Cyril Jabea Ekabe, Jules Kehbila, Carlson-Babila Sama, Benjamin Momo Kadia, Martin Hongieh Abanda, Gottlieb Lobe Monekosso
BACKGROUND: Emery-Dreifuss muscular dystrophy is a rare genetic muscular disease, presenting mainly with contractures, weakness and cardiac conduction abnormalities. Its clinical and laboratory similarities to other muscular dystrophies, and rarity poses diagnostic challenges, requiring a high index of suspicion in resource limited settings. CASE PRESENTATION: An 8 year old sub-Saharan male presented with rigidity and deformity of both elbows and ankles, and weakness of the upper limbs and lower limbs for duration of 4 months...
January 9, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/27960036/emerin-self-assembly-mechanism-role-of-the-lem-domain
#2
Camille Samson, Florian Celli, Kitty Hendriks, Maximilian Zinke, Nada Essawy, Isaline Herrada, Ana-Andreea Arteni, François-Xavier Theillet, Béatrice Alpha-Bazin, Jean Armengaud, Catherine Coirault, Adam Lange, Sophie Zinn-Justin
At the nuclear envelope, the inner nuclear membrane protein emerin contributes to the interface between the nucleoskeleton and the chromatin. Emerin is an essential actor of the nuclear response to a mechanical signal. Genetic defects in emerin cause Emery-Dreifuss muscular dystrophy. It was proposed that emerin oligomerization regulates nucleoskeleton binding and impaired oligomerization contributes to the loss of function of emerin disease-causing mutants. We here report the first structural characterization of emerin oligomers...
December 13, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27942506/emery-dreifuss-muscular-dystrophy-a-report-of-a-large-family-with-11-affected-individuals
#3
Azadeh Ahmadifard, Javad Jamshidi, Abbas Tafakhori, Reza Mollazadeh, Zeinab Falsafi, Hossein Darvish
No abstract text is available yet for this article.
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27938454/cardiac-manifestations-of-congenital-lmna-related-muscular-dystrophy-in-children-three-case-reports-and-recommendations-for-care
#4
Felice Heller, Ivana Dabaj, Jean K Mah, Jean Bergounioux, Aben Essid, Carsten G Bönnemann, Anne Rutkowski, Gisèle Bonne, Susana Quijano-Roy, Karim Wahbi
Skeletal and cardiac muscle laminopathies, caused by mutations in the lamin A/C gene, have a clinical spectrum from congenital LMNA-related muscular dystrophy to later-onset Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and dilated cardiomyopathy. Although cardiac involvement is observed at all ages, it has only been well described in adults. We present the evolution of cardiac disease in three children with congenital muscular dystrophy presentation of LMNA-related muscular dystrophy. In this series, atrial arrhythmia was the presenting cardiac finding in all three patients...
December 12, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27911330/fhl1b-interacts-with-lamin-a-c-and%C3%A2-emerin-at-the-nuclear-lamina-and%C3%A2-is%C3%A2-misregulated-in-emery-dreifuss-muscular-dystrophy
#5
Esma Ziat, Kamel Mamchaoui, Maud Beuvin, Isabelle Nelson, Feriel Azibani, Simone Spuler, Gisèle Bonne, Anne T Bertrand
BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is associated with mutations in EMD and LMNA genes, encoding for the nuclear envelope proteins emerin and lamin A/C, indicating that EDMD is a nuclear envelope disease. We recently reported mutations in FHL1 gene in X-linked EDMD. FHL1 encodes FHL1A, and the two minor isoforms FHL1B and FHL1C. So far, none have been described at the nuclear envelope. OBJECTIVE: To gain insight into the pathophysiology of EDMD, we focused our attention on the poorly characterized FHL1B isoform...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27802164/nuclear-alignment-in-myotubes-requires-centrosome-proteins-recruited-by-nesprin-1
#6
Aude Espigat-Georger, Vyacheslav Dyachuk, Cécile Chemin, Laurent Emorine, Andreas Merdes
Myotubes are syncytial cells generated by fusion of myoblasts. Among the numerous nuclei in myotubes of skeletal muscle fibres, the majority are equidistantly positioned at the periphery, except for clusters of multiple nuclei underneath the motor endplate. The correct positioning of nuclei is thought to be important for muscle function and requires nesprin-1 (also known as SYNE1), a protein of the nuclear envelope. Consistent with this, mice lacking functional nesprin-1 show defective nuclear positioning and present aspects of Emery-Dreifuss muscular dystrophy...
November 15, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27673727/global-transcriptional-changes-caused-by-an-edmd-mutation-correlate-to-tissue-specific-disease-phenotypes-in-c-elegans
#7
Noam Zuela, Jehudith Dorfman, Yosef Gruenbaum
There are numerous heritable diseases associated with mutations in the LMNA gene. Most of these laminopathic diseases, including several muscular dystrophies, are autosomal dominant and have tissue-specific phenotypes. Our previous studies have shown that the globally expressed Emery-Dreifuss muscular dystrophy (EDMD)-linked lamin mutation, L535P, disrupts nuclear mechanical response specifically in muscle nuclei of C. elegans leading to atrophy of the body muscle cells and to reduced motility. Here we used RNA sequencing to analyze the global changes in gene expression caused by the L535P EDMD lamin mutation in order to gain better understanding of disease mechanisms and the correlation between transcription and phenotype...
September 27, 2016: Nucleus
https://www.readbyqxmd.com/read/27498076/inhibition-of-late-sodium-current-attenuates-ionic-arrhythmia-mechanism-in-ventricular-myocytes-expressing-lamina-n195k-mutation
#8
Yogananda S Markandeya, Tadashi Tsubouchi, Timothy A Hacker, Matthew R Wolff, Luiz Belardinelli, Ravi C Balijepalli
BACKGROUND: Lamin A and C are nuclear filament proteins encoded by the LMNA gene. Mutations in the LMNA gene cause many congenital diseases known as laminopathies, including Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford progeria syndrome, and familial dilated cardiomyopathy (DCM) with conduction disease. A missense mutation (N195K) in the A-type lamins results in familial DCM and sudden arrhythmic death. OBJECTIVE: The purpose of this study was to investigate the ion current mechanism of arrhythmia and DCM caused by the LaminA-N195K variant...
November 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27452966/diagnosis-and-management-of-adult-hereditary-cardio-neuromuscular-disorders-a-model-for-the-multidisciplinary-care-of-complex-genetic-disorders
#9
REVIEW
R Brian Sommerville, Margherita Guzzi Vincenti, Kathleen Winborn, Anne Casey, Nathan O Stitziel, Anne M Connolly, Douglas L Mann
Genetic disorders that disrupt the structure and function of the cardiovascular system and the peripheral nervous system are common enough to be encountered in routine cardiovascular practice. Although often these patients are diagnosed in childhood and come to the cardiologist fully characterized, some patients with hereditary neuromuscular disease may not manifest until adulthood and will present initially to the adult cardiologist for an evaluation of an abnormal ECG, unexplained syncope, LV hypertrophy, and or a dilated cardiomyopathy of unknown cause...
January 2017: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/27409453/muscle-hypertrophy-as-the-presenting-sign-in-a-patient-with-a-complete-fhl1-deletion
#10
T A Willis, C L Wood, J Hudson, T Polvikoski, R Barresi, H Lochmüller, K Bushby, V Straub
Four and a half LIM protein 1 (FHL1/SLIM1) has recently been identified as the causative gene mutated in four distinct diseases affecting skeletal muscle that have overlapping features, including reducing body myopathy, X-linked myopathy, X-linked dominant scapuloperoneal myopathy and Emery-Dreifuss muscular dystrophy. FHL1 localises to the sarcomere and the sarcolemma and is believed to participate in muscle growth and differentiation as well as in sarcomere assembly. We describe in this case report a boy with a deletion of the entire FHL1 gene who is now 15 years of age and presented with muscle hypertrophy, reduced subcutaneous fat, rigid spine and short stature...
August 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27239431/semaphorin-3a-promotes-activation-of-pax7-myf5-and-myod-through-inhibition-of-emerin-expression-in-activated-satellite-cells
#11
Mulan Qahar, Yuko Takuma, Wataru Mizunoya, Ryuichi Tatsumi, Yoshihide Ikeuchi, Mako Nakamura
We previously showed that Semaphorin 3A (Sema3A) expression was induced when quiescent muscle satellite cells were stimulated by hepatocyte growth factor and became activated satellite cells (ASCs). However, how Sema3A regulates genes in the early phase of ASCs remains unclear. In this study, we investigated whether Sema3A signaling can regulate the early phase of ASCs, an important satellite cell stage for postnatal growth, repair, and maintenance of skeletal muscle. We showed that expression of the myogenic proliferation regulatory factors Pax7 and Myf5 was decreased in myoblasts transfected with Sema3A siRNA...
June 2016: FEBS Open Bio
https://www.readbyqxmd.com/read/27212207/the-epidemiology-of-neuromuscular-disorders-age-at-onset-and-gender-in-the-netherlands
#12
Johanna C W Deenen, Pieter A van Doorn, Catharina G Faber, Anneke J van der Kooi, Jan B M Kuks, Nicolette C Notermans, Leo H Visser, Corinne G C Horlings, Jan J G M Verschuuren, André L M Verbeek, Baziel G M van Engelen
Based on approximately eight years of data collection with the nationwide Computer Registry of All Myopathies and Polyneuropathies (CRAMP) in the Netherlands, recent epidemiologic information for thirty neuromuscular disorders is presented. This overview includes age and gender data for a number of neuromuscular disorders that are either relatively frequently seen in the neuromuscular clinic, or have a particular phenotype. Since 2004, over 20,000 individuals with a neuromuscular disorder were registered in CRAMP; 56% men and 44% women...
July 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27179216/emery-dreifuss-muscular-dystrophy-the-most-recognizable-laminopathy
#13
A Madej-Pilarczyk, A Kochański
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1) kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2), with an autosomal dominant mode of inheritance...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27099177/laminopathies-disrupt-epigenomic-developmental-programs-and-cell-fate
#14
Jelena Perovanovic, Stefania Dell'Orso, Viola F Gnochi, Jyoti K Jaiswal, Vittorio Sartorelli, Corinne Vigouroux, Kamel Mamchaoui, Vincent Mouly, Gisèle Bonne, Eric P Hoffman
The nuclear envelope protein lamin A is encoded by thelamin A/C(LMNA) gene, which can contain missense mutations that cause Emery-Dreifuss muscular dystrophy (EDMD) (p.R453W). We fused mutated forms of the lamin A protein to bacterial DNA adenine methyltransferase (Dam) to define euchromatic-heterochromatin (epigenomic) transitions at the nuclear envelope during myogenesis (using DamID-seq). Lamin A missense mutations disrupted appropriate formation of lamin A-associated heterochromatin domains in an allele-specific manner-findings that were confirmed by chromatin immunoprecipitation-DNA sequencing (ChIP-seq) in murine H2K cells and DNA methylation studies in fibroblasts from muscular dystrophy patient who carried a distinctLMNAmutation (p...
April 20, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27061647/electrocardiographic-analysis-in-unclassifiable-arrhythmic-cardiomyopathy-associated-with-emery-dreifuss-caused-by-a-mutation-in-fhl1
#15
Stefan Peters
No abstract text is available yet for this article.
July 1, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27060328/-emery-dreifuss-muscular-dystrophy-a-family-with-two-cases
#16
Qianqian Wei, Ruwei Ou, Huifang Shang
No abstract text is available yet for this article.
April 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27054045/perinatal-management-of-pregnancy-complicated-by-autosomal-dominant-emery-dreifuss-muscular-dystrophy
#17
Megumi Sato, Hiromitsu Shirasawa, Kenichi Makino, Hiroshi Miura, Wataru Sato, Dai Shimizu, Naoki Sato, Jin Kumagai, Akira Sato, Yukihiro Terada
Introduction Autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) is rare compared with other forms of muscular dystrophy and is characterized by cardiac conduction defects. Here, we present the case of a patient diagnosed with AD-EDMD during the first trimester of pregnancy who developed acute preeclampsia and subsequently, congestive heart failure (CHF) following cesarean section. Case A 36-year-old, gravida 0 para 0 woman was diagnosed with AD-EDMD by genetic testing during the first trimester of pregnancy, and she suddenly developed preeclampsia and partial HELLP (hemolytic anemia, elevated liver enzymes, and low platelets) syndrome at 33 weeks of gestation...
March 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27034135/impaired-mechanical-response-of-an-edmd-mutation-leads-to-motility-phenotypes-that-are-repaired-by-loss-of-prenylation
#18
Noam Zuela, Monika Zwerger, Tal Levin, Ohad Medalia, Yosef Gruenbaum
There are roughly 14 distinct heritable autosomal dominant diseases associated with mutations in lamins A/C, including Emery-Dreifuss muscular dystrophy (EDMD). The mechanical model proposes that the lamin mutations change the mechanical properties of muscle nuclei, leading to cell death and tissue deterioration. Here, we developed an experimental protocol that analyzes the effect of disease-linked lamin mutations on the response of nuclei to mechanical strain in living Caenorhabditis elegans We found that the EDMD mutation L535P disrupts the nuclear mechanical response specifically in muscle nuclei...
May 1, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/26966385/emery-dreifuss-muscular-dystrophy-a-test-case-for-precision-medicine
#19
REVIEW
De-Ann M Pillers, Nicholas H Von Bergen
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and their underlying gene defects leading to EDMD are varied. A common aspect of the gene defects is their involvement in, or with, the nuclear envelope. Treatment approaches are largely based on clinical symptoms. The genetic diversity of EDMD predicts that a cure will ultimately depend upon the individual's defect at the gene level, making this an ideal candidate for a precision medicine approach...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/26857240/unclassifiable-arrhythmic-cardiomyopathy-associated-with-emery-dreifuss-caused-by-a-mutation-in-fhl1
#20
I San Román, M Navarro, F Martínez, L Albert, L Polo, J Guardiola, E García-Molina, C Muñoz-Esparza, J M López-Ayala, M Sabater-Molina, J R Gimeno
Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The heart was the main organ involved. Affected adult males had mild hypertrophy, systolic dysfunction and restriction with non-dilated ventricles. Carriers had significant QTc prolongation. The proband presented with resuscitated cardiac arrest...
August 2016: Clinical Genetics
keyword
keyword
22596
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"