Results 71 to 80 of about 874,608 (238)

Assembly and Maintenance of Myofibrils in the Heart

Cytoskeleton, EarlyView.
ABSTRACT The assembly of actin and myosin to the paracrystalline arrangement of myofibrils in striated muscle, that is, heart and skeletal, has puzzled many a cell biologist. Different models, based on cultured cardiomyocytes, were proposed for the last 30 years to explain the sequence of events.
Elisabeth Ehler
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8

, 2012
[[abstract]]"Objective To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ ...
陳持平;Chen, Chih-Ping;Chen, Ming;Ko, Tsang-Ming;Ma, Gwo-Chin;Tsai, Fuu-Jen;Tsai, Ming-Song;Wu, Pei-Chen;Lee, Chen-Chi;Che, Li-Feng;Wang, Wayseen
core  

Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18

, 2010
Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18We describe a trisomy 21 with a small supernumerary marker chromosome (sSMC) derived from chromosomes 13/21 and 18 in which the karyotype was 48, XY, +der(13 or ...
T Liehr, E Ewers, S Niksic, V Deretic, G Pilic, M Merkas, M Ziegler   +6 more
core   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features

, 2013
Xq28 duplication, including the MECP2 gene, is among the most frequently identified Xq subtelomeric rearrangements. The resulting clinical phenotype is named Lubs syndrome and mainly consists of intellectual disability, congenital hypotonia, absent ...
Cordova-Fletes, C., Plaja, A., Barros-Nunez, P., Romero-Espinoza, P., Neira, V.A., Rojas-Martinez, A., Ortiz-Lopez, R.   +6 more
core   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

Small supernumerary marker chromosomes: A legacy of trisomy rescue? [PDF]

, 2019
We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age.
Errichiello E., Provenzano A., Liehr T., Zuffardi O., Chrzanowska K., Xumerle L., Manolakos E., Giglio S., ERRICHIELLO, ELVIRA, Guerneri S., Mattina T., Larizza D., Schinzel A., Delledonne M., Soli F., Reho P., Kurtas N. E., Al-Rikabi A. H., Bonaglia M. C., REHO, PAOLO, Brusco A., Tommerup N., Nazaryan-Petersen L., Leonardelli L., Natacci F.   +24 more
core   +2 more sources

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18

, 2012
[[abstract]]"Objective Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives rise to difficulties in genetic counseling, and requires molecular cytogenetic technologies such as spectral karyotyping, fluorescence in situ hybridization,
陳持平;Chen, Chih-Ping;Lin, Chyi-Chyang;Su, Yi-Ning;Tsai, Fuu-Jen;Chen, Yu-Ting;Chern, Schu-Rern;Lee, Chen-Chi;Town, Dai-Dyi;Chen, Li-Feng;Wu, Pei-Chen;Wang, Wayseen
core  

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

Prenatal diagnosis of mosaic tetrasomy 18p

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from isochromosome 18p, by interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes.
Chih-Ping Chen, Tsang-Ming Ko, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Yu-Ting Chen, Dai-Dyi Town, Wayseen Wang   +7 more
doaj   +1 more source