Results 71 to 80 of about 6,801 (167)

Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Journal of the Formosan Medical Association, 2007
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progressive weakness, and muscle wasting in humeroperoneal muscles, and adult-onset cardiomyopathy with conduction block. We analyzed blood samples from an EDMD
Wen-Chen Liang, Chung-Yee Yuo, Chun-Ya Liu, Chee-Siong Lee, Kanako Goto, Yukiko K. Hayashi, Yuh-Jyh Jong   +6 more
doaj   +1 more source

Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe

European Journal of Neurology, Volume 32, Issue 11, November 2025.
In six patients from five families, we identified two novel exon 363 pathogenic variants causing recessive titinopathies. Patients with a recurrent Eastern European founder variant presented with juvenile distal titinopathy, while a Belgian family showed an early‐onset titinopathy with contractures.
Veronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, Anna Vihola, Helena Luque, Fedor Konovalov, Stojan Peric, Cathrina Duffy, Cornelia Kornblum, Kristl G. Claeys, Peter Hackman, Bjarne Udd, Marco Savarese   +12 more
wiley   +1 more source

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling [PDF]

, 2017
Lamins are intermediate filament proteins that assemble into a meshwork underneath the inner nuclear membrane, the nuclear lamina. Mutations in the LMNA gene, encoding lamins A and C, cause a variety of diseases collectively called laminopathies.
Dialynas, George, Herrmann, Harald, Isermann, Philipp, Jaalouk, Diana E., Lammerding, Jan, Lombardi, Maria L., Mauermann, Monika, Wallrath, Lori L., Zwerger, Monika   +8 more
core  

cTAGE5/MEA6 Regulates LBR Localization to Maintain Nuclear Envelope Integrity and Safeguard Against Aging

Aging Cell, Volume 24, Issue 10, October 2025.
cTAGE5 regulates LBR trafficking between the ER and the nucleus membrane to maintain the integrity of both the ER and the nuclear envelope. cTAGE5 KO results in LBR retention in the ER, reduced stability, and subsequent disruption of nuclear envelope integrity. ABSTRACT cTAGE5/MEA6 plays a pivotal role in COPII complex assembly, ER‐to‐Golgi trafficking,
Yaqing Wang, Pengyu Sun, Fuqiang Yang, Tiantian Ma, Junwan Fan, Lei Shi, Nan Li, Fei Gao, Kangmin He, Zhiheng Xu   +9 more
wiley   +1 more source

Sleep hypoventilation [PDF]

, 2010
Sleep hypoventilation is seen in patients with neuromuscular disease, as well as in those with obesity hypoventilation syndrome (OHS), which is defined as the combination of obesity, chronic hypercapnia, and hypoxemia during wakefulness that is ...
Fontes, Francisco Hora, Togeiro, Sonia Maria [UNIFESP]   +1 more
core   +2 more sources

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network

Muscle &Nerve, Volume 72, Issue 3, Page 475-484, September 2025.
ABSTRACT Introduction/Aims Pain is a recognized symptom of muscular dystrophy (MD), but little is known about prescription pain medications in this population. We describe pain experiences and pain medications prescribed for individuals with selected MDs using population‐based surveillance data collected by the Muscular Dystrophy Surveillance, Tracking,
Jonathan Suhl, Kristin M. Conway, Shiny Thomas, Sonja A. Rasmussen, James F. Howard, Nicholas E. Johnson, Paul A. Romitti, Katherine D. Mathews, The Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)   +9 more
wiley   +1 more source

Epithelial stem cells In Hutchinson-Gilford progeria syndrome [PDF]

, 2015
Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) are two rare genetic disorders that affect children. Complications from cardiovascular disease, including atherosclerosis, are the most common cause of death in HGPS, which ...
McKenna, Tomás
core   +1 more source

ESR1 Variants and Subcontinental Genomic Ancestry: Insights from the 1000 Genomes Project and Native American Populations

Clinical Pharmacology &Therapeutics, Volume 118, Issue 1, Page 232-241, July 2025.
The ESR1 gene is relevant in breast cancer treatments in the pharmacogenetics context. However, Native, African, and mixed populations are known to be underrepresented in genomic studies. This is particularly important given that the difference in variants' frequencies among different populations can lead to population‐specific clinical implications ...
Mariana M. Scudeler, Caíque Manóchio, Bruno Miwa, Guilherme Belfort‐Almeida, Lucas Faria‐Costa, Cesar Sanchez, Carlos Padilla, Omar Caceres, Eduardo Tarazona‐Santos, Heinner Guio, Timothy D. O'Connor, Fernanda Rodrigues‐Soares   +11 more
wiley   +1 more source

Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology

European Journal of Histochemistry, 2009
The present review summarizes recent cytochemical findings on the functional organization of the nuclear domains, with a particular emphasis on the relation between nuclear envelope- associated proteins and chromatin.
NM Maraldi, G Lattanzi, P Sabatelli, A Ognibene, M Columbaro, C Capanni, C Rutigliano, E Mattioli, S Squarzoni   +8 more
doaj   +1 more source

Lamin A/C Haploinsufficiency Modulates the Differentiation Potential of Mouse Embryonic Stem Cells [PDF]

, 2013
BACKGROUND: Lamins are structural proteins that are the major determinants of nuclear architecture and play important roles in various nuclear functions including gene regulation and cell differentiation.
Chaturvedi, P., Kumar, S., Kumaran, R. I., Parnaik, V. K., Sehgal, P.   +4 more
core   +2 more sources