American Journal of Perinatology Reports, 2016 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.
Megumi Sato +9 more
doaj +1 more source
Lamin A/C and emerin regulate MKL1/SRF activity by modulating actin dynamics [PDF]
, 2014 Laminopathies, caused by mutations in the LMNA gene encoding the nuclear envelope proteins lamins A and C, represent a diverse group of diseases that include Emery-Dreifuss Muscular Dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular ...
Ho, Chin Yee +3 more
core +1 more source
At the nucleus of cancer: how the nuclear envelope controls tumor progression
MedComm, Volume 6, Issue 2, February 2025.The review is focused on exploring novel intriguing perspectives on the role of the nuclear envelope in tumor progression. Alterations of nuclear envelope proteins result in the dysregulation of cellular pathways and promote tumorigenesis, highlighting that complex regulatory mechanisms lie behind the alterations in nuclear shape in cancer, thus ...
Francesca Paganelli +6 more
wiley +1 more source
Statistical Test of Expression Pattern (STEPath): a new strategy to integrate gene expression data with genomic information in individual and meta-analysis studies [PDF]
, 2011 Background In the last decades, microarray technology has spread, leading to a dramatic increase of publicly available datasets. The first statistical tools developed were focused on the identification of significant differentially expressed genes. Later,
Paolo Martini +5 more
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Motor function evaluation in merosin-deficient congenital muscular dystrophy children [PDF]
, 2005 Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD), and present a homogenous phenotype
Beteta, Javier Toledano +6 more
core +3 more sources
Evaluation of Genetic Causes of Cardiomyopathy in Childhood [PDF]
, 2015 Cardiomyopathy frequently has a genetic basis. In adults, mutations in genes encoding components of the sarcomere, cytoskeleton, or desmosome are frequent genetic causes of cardiomyopathy.
Ware, Stephanie M.
core +1 more source
The empowerment of translational research: lessons from laminopathies
Orphanet Journal of Rare Diseases, 2012 The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009.
Benedetti Sara +40 more
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Loss-of-function genetic diseases and the concept of pharmaceutical targets [PDF]
, 2007 The biomedical world relies heavily on the definition of pharmaceutical targets as an essential step in the drug design process. It is therefore tempting to apply this model to genetic diseases as well.
Laurent Ségalat +10 more
core +2 more sources
Report of 3 Cases of Emery-Dreifuss Muscular Dystrophy in a Family
پزشکی بالینی ابن سینا, 2004 Emery-Dreifuss muscular dystrophy (EDMD)can be seen in the middle childhood and the genetic patterns of them are X-linked recessive, autosomal dominant or recessive.
Parviz Yazdanpanah +5 more
doaj
LMNA‐related muscular dystrophy presenting as an inflammatory myopathy
Annals of the Child Neurology SocietyIntroduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa +7 more
doaj +1 more source