Results 81 to 90 of about 2,755,429 (311)

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi, Zitian Tang, Wendy Dong, Jenna Ulibarri, Elvisa Mehinovic, Simone Thomas, Ahmet Höke, Sheng Chih Jin   +7 more
wiley   +1 more source

Phenomenon of loss of heterozygosity in tumour tissue of breast cancer: association with expression of monoresistance genes

Бюллетень сибирской медицины, 2018
Purpose of work. To perform a genome-wide association study of loss of heterozygosity (LOH) with monoresistance genes expression during neoadjuvant chemotherapy (NAC) in breast cancer.Materials and methods.
M. M. Tsyganov, I. V. Deryusheva, E. Yu. Garbukov, M. K. Ibragimova, P. V. Kazantseva, V. A. Bychkov, E. M. Slonimskaya, N. V. Litviakov   +7 more
doaj   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Research of loss of heterozygaity on chromosome 3p in non-small cell lung cancer

Chinese Journal of Lung Cancer, 2008
Background and objective It has been proven that allelic loss of chromosome region 3p occurs early and frequently in non-small-cell lung cancer, and numerous tumor suppressor genes at this locus may be targets of inactivation. The aim of this study is to
Xinyu MEI, Yujie SUN, Meiqing XU, Dongchun MA, Dazhong WEI, Jieyong TIAN, Zixue REN   +6 more
doaj  

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson, GRASP‐LGMD Consortium   +29 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

Estimating heterozygosity from a low-coverage genome sequence, leveraging data from other individuals sequenced at the same sites [PDF]

arXiv, 2012
High-throughput shotgun sequence data makes it possible in principle to accurately estimate population genetic parameters without confounding by SNP ascertainment bias. One such statistic of interest is the proportion of heterozygous sites within an individual's genome, which is informative about inbreeding and effective population size.
arxiv  

Porous Silicon Nanoneedles Efficiently Deliver Adenine Base Editor to Correct a Recurrent Pathogenic COL7A1 Variant in Recessive Dystrophic Epidermolysis Bullosa

Advanced Materials, EarlyView.
Base editing using nanoneedles efficiently corrects pathogenic variants in the type VII collagen gene of primary fibroblasts from patients with recessive dystrophic epidermolysis bullosa. Nanoneedle editing induces minimal and reversible transcriptional perturbations while restoring the production and secretion of functional type VII collagen.
Salman Ahmad Mustfa, Marija Dimitrievska, Cong Wang, Chenlei Gu, Ningjia Sun, Katarzyna Romańczuk, Pawel Karpinski, Łukasz Łaczmański, John A. McGrath, Joanna Jacków‐Malinowska, Ciro Chiappini   +10 more
wiley   +1 more source

Analysis of Loss of Heterozygosity in Korean Patients with Keratoacanthoma [PDF]

Journal of Korean Medical Science, 2005
Loss of heterozygosity (LOH) has been established as an important genetic mechanism giving rise to malignant neoplasia. The mechanism of LOH has been shown to cause basal cell carcinoma and malignant melanoma as well as other types of skin cancer. A few studies on LOH in sporadic keratoacanthomas have been reported.
Tae-Won Ha, Ki-Hwan Han, Dae-Gu Son, Sang-Pyo Kim, Dae-Kwang Kim   +4 more
openaire   +4 more sources

Autologous Peripheral Vγ9Vδ2 T Cell Synergizes with αβ T Cell Through Antigen Presentation and BTN3A1 Blockade in Immunotherapy of Cervical Cancer

Advanced Science, EarlyView.
This study provides proof‐of‐concept evidence showing that through direct killing, antigen presentation, and competitively binding to BTN3A1, Vγ9Vδ2 T cells amplified from cervical cancer (CC) patients can synergize with αβ T cells to exert anti‐CC function both in vitro and in vivo.
Min Wu, Jian Liu, Liting Liu, Yifan Yang, Hong Liu, Long Yu, Haihong Zeng, Shuo Yuan, Ruiyi Xu, Hangyu Liu, Han Jiang, Shen Qu, Liming Wang, Ying Chen, Jingyu Wang, Yuwei Zhang, Shan He, Ling Feng, Junyan Han, Wanjiang Zeng, Hui Wang, Yafei Huang   +21 more
wiley   +1 more source