Results 91 to 100 of about 5,284 (245)

MYL1‐Related Congenital Myopathy: Clinical, Genetic and Pathological Insights

Neuropathology and Applied Neurobiology, Volume 51, Issue 3, June 2025.
This study describes two individuals with severe congenital myopathy caused by novel biallelic MYL1 variants. Detailed muscle analyses revealed selective type II fibre hypotrophy, aberrant myofibrillogenesis, and signs of autophagic impairment. The findings expand the clinical and pathological spectrum of MYL1‐related myopathy and suggest a broader ...
Irene Madrigal, Cristina Villar‐Vera, Gemma Arca, Jesica Expósito‐Escudero, Laia Rodríguez‐Revenga, Andres Piolatti‐Luna, Nuria Muelas, Roger Vilchez, Maria Ciutad Celdran, Anna Codina, Berta Estévez‐Arias, Laura Carrera‐Garcia, Carlos Ortez, Leonardo Rodriguez‐Carunchio, Giorgia Sebastiani, Inmaculada Azorin, Andrés Nascimento, Cristina Jou, Juan Jesus Vilchez, Daniel Natera‐de Benito   +19 more
wiley   +1 more source

Identification and characterization of tropomyosin 3 associated with granulin-epithelin precursor in human hepatocellular carcinoma [PDF]

, 2012
Background and Aim: Granulin-epithelin precursor (GEP) has previously been reported to control cancer growth, invasion, chemo-resistance, and served as novel therapeutic target for cancer treatment.
Cheng, CKC, Cheung, PFY, Cheung, ST, Fan, ST, Lai, PBS, Lam, CY, Ng, EWY, Ng, IOL, Poon, TCW, Wong, NCL, Yip, CW   +10 more
core   +1 more source

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper‐contractility

The Journal of Physiology, Volume 603, Issue 12, Page 3533-3550, 15 June 2025.
Abstract figure legend Graphical representation of the main results. The cartoon indicates that, in the presence of TNNT1 variants, the thin filament is more compliant, and more easily activated leading to higher myofibre Ca2+ sensitivity and cellular hyper‐contractility.
Jenni Laitila, Christopher T. A. Lewis, Anthony L. Hessel, Guido Primiano, Aurelio Hernandez‐Lain, Chiara Fiorillo, Michael W. Lawlor, Coen A. C. Ottenheijm, Heinz Jungbluth, Ka Fu Man, Arianna Fornili, Julien Ochala   +11 more
wiley   +1 more source

Rheumatic conditions in human immunodeficiency virus infection [PDF]

, 2017
Many rheumatic diseases have been observed in HIV-infected persons. We, therefore, conducted a comprehensive literature search in order to review the prevalence, presentation and pathogenesis of rheumatic manifestations in HIV-infected subjects ...
Daikeler, T., Tyndall, A., Walker, U. A.
core  

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

eLife, 2017
Maintenance of muscle function requires assembly of contractile proteins into highly organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcomere disarray.
Andres Ramirez-Martinez, Bercin Kutluk Cenik, Svetlana Bezprozvannaya, Beibei Chen, Rhonda Bassel-Duby, Ning Liu, Eric N Olson   +6 more
doaj   +1 more source

Study of actin mutations linked to muscle disease

, 2008
Imperial Users ...
Feng , Juanjuan, Feng , Juanjuan
core  

Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review [PDF]

, 2016
FKBP14-related Ehlers-Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers.
Aldeeri, Baumann, Beighton, Colombi, Galat, Murray, Rohrbach, Steinmann   +7 more
core   +1 more source

A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach

Respiratory Medicine Case Reports
Background: Nemaline rod myopathy (NRM) is a rare muscle disorder defined by muscle weakness, respiratory insufficiency, and dysphagia. Respiratory muscle involvement can lead to acute hypercapnic respiratory failure, posing significant challenges in ...
Chandana Madala, Srilakshmi Giridharan, Dr Anthony Vacchio   +2 more
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression

Neurobiology of Disease, 2004
Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological,
Despina Sanoudou, Leslie A. Frieden, Judith N. Haslett, Alvin T. Kho, Steven A. Greenberg, Isaac S. Kohane, Louis M. Kunkel, Alan H. Beggs   +7 more
doaj   +1 more source