Results 61 to 70 of about 19,684 (296)

fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles

Nature Communications
In muscular dystrophies, muscle fibers loose integrity and die, causing significant suffering and premature death. Strikingly, the extraocular muscles (EOMs) are spared, functioning well despite the disease progression.
Nils Dennhag, Abraha Kahsay, Itzel Nissen, Hanna Nord, Maria Chermenina, Jiao Liu, Anders Arner, Jing-Xia Liu, Ludvig J. Backman, Silvia Remeseiro, Jonas von Hofsten, Fatima Pedrosa Domellöf   +11 more
doaj   +1 more source

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Arquivos de Neuro-Psiquiatria, 2014
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function ...
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Júlia Filardi Paim, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier Neto, Reinaldo Issao Takata, Antonio Pedro Vargas   +10 more
doaj   +1 more source

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

Microfluidic Valve‐Integrated Garment for Smooth Sequential Gradient Mechanotherapy

Advanced Intelligent Systems, EarlyView.
We present a soft wearable sleeve that delivers smooth, gap‐free compression using overlapping air‐filled actuators and tiny microfluidic valves. The system reduces bulk, lowers power needs, and uses a smartphone‐sized control box. It can provide sequential gradient compression, gradient pressure holding, and fast deflation, supporting more portable ...
Run Ze Gao, Chen Xi Huang, Drew M. Werbowski, Jacqueline Mary Kormylo, Clark R. Dickerson, Carolyn L. Ren   +5 more
wiley   +1 more source

Profiling Co‐Occurrent Morphological Phenotypes and Their Degree of Expression Severity in Vacuolated Cells by Holo‐Tomographic Flow Cytometry and Fractal Analysis

Advanced Intelligent Systems, EarlyView.
HTFC gets 3D refractive index tomograms of flowing cells. Label‐free monocytes are engineered to express patterns of cytoplasmic vacuoles. From the tomogram, an efficient dimensionality reduction is operated. Interpretable features are extracted to classify the expression severity of phenotypes coexisting in each cell, visually represented by a seven ...
Marika Valentino, Giusy Giugliano, Daniele Pirone, Fabrizio Licitra, Fulvia Vitale, Pasquale Memmolo, Lisa Miccio, Massimo D’Agostino, Pietro Ferraro, Vittorio Bianco   +9 more
wiley   +1 more source

Diagnostic approach to the congenital muscular dystrophies

, 2014
International audienceCongenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity
Bönnemann, Carsten, Deconinck, Nicolas, Béroud, Christophe, Moore, Steven A, Mathews, Katherine D, North, Kathryn N., Muntoni, Francesco, Wang, Ching H, Bertini, Enrico, Wang, Ching H., For Congenital Muscular Dystrophies, Members of International Standard of Care Committee, Mathews, Katherine D., Quijano-Roy, Susana, Rutkowski, Anne, North, Kathryn N, Moore, Steven A., Ferreiro, Ana, Bellini, Jonathan, Sewry, Caroline   +18 more
core   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Protein expression of canine and feline muscular dystrophies

, 2021
Muscular dystrophies in dogs and cats represent a heterogeneous group of inherited, sometimes congenital, but infrequently diagnosed, progressive neuromuscular disorders.
Vattemi, G, Tomelleri, G, Cantile, C, Marini, M, Guglielmi, V, Salvadori, C   +5 more
core   +1 more source