Results 91 to 100 of about 173,415,106 (290)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Loss of heterozygosity in acute leukemia: evidence of frequent submicroscopic deletions

Haematologica, 2007
Although chromosomal abnormalities are detected by conventional cytogenetic analysis (CCA) in 40–60% of patients with acute myeloid leukemia (AML), cryptic chromosomal deletions may only be detected by molecular analysis. To determine their frequency, we
Cecilia Agueli, Rosaria Basiricò, Francesco Fabbiano, Valentina Rizzo, Lucia Cascio, Giuseppe Cammarata, Anna Marfia, Maria La Rosa, Salvo Mirto, Alessandra Santoro   +9 more
doaj   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease

, 2001
Cowden disease is an autosomal dominant syndrome characterized by facial trichilemmomas, acral keratoses, papillomatous papules, mucosal lesions, and an increased risk for breast and nonmedullary thyroid cancer.
Stefan Zeuzem, Manfred Wolter, Guido Plotz, Stephen J. Meltzer, Angela Brieger, Joerg Trojan, Jochen Raedle   +6 more
core   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

heterozygosity-fitness data for Silene vulgaris

, 2014
These data provide sampling meta-data, genetic summary statistics (multi-locus heterozygosity and STRUCTURE Q-scores), and common garden fitness data for 163 families of Silene vulgaris collected from across Europe (native) and North America ...
Andrea Berardi (3250245), Stephen Keller (3250251), Fields, Peter, Doug Taylor (74829), Berardi, Andrea, Keller, Stephen, Taylor, Doug, Peter Fields (3250248)   +7 more
core   +1 more source

Simultaneous analysis of microsatellite instability and loss of heterozygosity by capillary electrophoresis with a homemade kit

, 2006
Microsatellite instability (MSI) and loss of heterozygosity (LOH), the alteration in length and strength of short tandem repeat sequences are an important molecular characteristic of many human tumors. MSI and LOH analysis has become an attractive method
Lv, S, 许国旺, Shi, XZ, Li, JH, Li, AY, Xu, GW   +5 more
core   +1 more source

Clonal dynamics following p53 loss of heterozygosity in Kras-driven cancers

Nature Communications, 2016
Using mosaic analysis with double markers to label genetically-distinct clones in established tumors, the authors studied the effects of p53 loss in lung and pancreatic cancers.
Mandar Deepak Muzumdar, Kimberly Judith Dorans, Katherine Minjee Chung, Rebecca Robbins, Tuomas Tammela, Vasilena Gocheva, Carman Man-Chung Li, Tyler Jacks   +7 more
doaj   +1 more source

Advancing Human Skin Equivalents: The Crucial Role of Neurovascular Integration

Advanced Healthcare Materials, EarlyView.
This review discusses the importance of integrating vascular and peripheral nerve systems into human skin equivalents (HSEs) to better recapitulate native skin physiology. Recent advances in vascularized, innervated, and neurovascularized HSEs are highlighted, together with emerging bioengineering strategies, current challenges, and future ...
Hao Wu, Lorenzo Moroni, Nicolas Lebonvallet, Vincent Flacher, Paul Wieringa   +4 more
wiley   +1 more source

Genomic approach in the research prognostic significance of effects loss of heterozygosity in tumor tissue breast [PDF]

, 2017
One of the variability factors of malignant tumors, particularly breast cancer is a genetic variation due to gene polymorphism, and especially - the phenomenon of loss of heterozygosity (LOH).
Ибрагимова, М. К., Дерюшева, И. В., Цыганов, М. М.   +2 more
core