Results 141 to 150 of about 586,929 (366)

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Epidermal Growth Factor Receptor Exon 20 Insertion in Early Resected Non-Small Cell Lung Cancer: A Retrospective, Single- Center Study in Taiwan

Journal of Chest Surgery
Background: EGFR exon 20 insertions account for 1% to 10% of EGFR mutations in nonsmall- cell lung cancer (NSCLC) and are known to confer resistance to traditional tyrosine kinase inhibitors.
Ying Shian Chen, Hsu-Kai Huang, Ying-Yi Chen, Yen-Shou Kuo, Kuan Hsun Lin, Cheng-Jung Lin, Tsai-Wang Huang   +6 more
doaj   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

Genome Biology, 2011
BackgroundEnrichment of loci by DNA hybridization-capture, followed by high-throughput sequencing, is an important tool in modern genetics. Currently, the most common targets for enrichment are the protein coding exons represented by the consensus coding
M. Bainbridge, Min Wang, Yuanqing Wu, I. Newsham, D. Muzny, J. Jefferies, T. Albert, Daniel L Burgess, R. Gibbs   +8 more
semanticscholar   +1 more source

EGFR exon 18 DelE709_T710insD as an Acquired Resistance Mechanism to Afatinib in an Advanced EGFR exon 18 E709H Lung Adenocarcinoma [PDF]

, 2018
Liang Zeng, Yongchang Zhang, Nong Yang
openalex   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction

Molecular Medicine
Background Biallelic pathogenic variants in the GALNS gene lead to Mucopolysaccharidosis Type IVA (MPS IVA), a rare lysosomal storage disorder.
Igor Bychkov, Elza Shchukina, Ekaterina Zakharova   +2 more
doaj   +1 more source

FOXP3 Polymorphism and Upregulation of the CXCL12‐CXCR4‐SNAIL Axis with High Infiltration of M2TAM by STAT3/NFKB Pathways Influence the Survival of Cervical Cancer Patients

Advanced Biology, EarlyView.
This study highlights how cervical carcinoma progression is shaped by immune–tumor interactions within the TME. M2‐TAM infiltration, regulated through STAT3/NF‐κB and linked to CXCL12–CXCR4, promotes immune suppression, angiogenesis, and poor survival.
George A. Lira, Fábio M. de Azevedo, Ingrid G. S. Lins, Janaína C. O. Crispim, Giovanna A. Lira, Rômulo S. Cavalcante, Ricardo Cobucci, Carolina O. Mendes‐Aguiar, Rafaela Torres Dantas Da Silva, Vinícius E. da Silva, Ryan C. Q. Aquino, Raimundo F. Araújo Júnior   +11 more
wiley   +1 more source

A high-resolution map of human evolutionary constraint using 29 mammals. [PDF]

, 2011
The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes.
Alföldi, Jessica, Baldwin, Jen, Baylor College of Medicine Human Genome Sequencing Center Sequencing Team, Beal, Kathryn, Birney, Ewan, Bloom, Toby, Broad Institute Sequencing Platform and Whole Genome Assembly Team, Chang, Jean, Chin, Chee Whye, Clamp, Michele, Clawson, Hiram, Cree, Andrew, Cuff, James, Delehaunty, Kim, Di Palma, Federica, Dihn, Huyen H, Dooling, David, Ernst, Jason, Fitzgerald, Stephen, Flicek, Paul, Fowler, Gerald, Fronik, Catrina, Fulton, Bob, Fulton, Lucinda, Garber, Manuel, Genome Institute at Washington University, Gibbs, Richard A, Gnerre, Sante, Goldman, Nick, Graves, Tina, Green, Eric D, Guttman, Mitchell, Haussler, David, Heiman, Dave, Herrero, Javier, Holloway, Alisha K, Hubisz, Melissa J, Jaffe, David B, Jhangiani, Shalili, Jordan, Gregory, Joshi, Vandita, Jungreis, Irwin, Kellis, Manolis, Kent, W James, Kheradpour, Pouya, Kostka, Dennis, Kovar, Christie L, Lander, Eric S, Lara, Marcia, Lee, Sandra, Lewis, Lora R, Lin, Michael F, Lindblad-Toh, Kerstin, Lowe, Craig B, Mardis, Elaine R, Margulies, Elliott H, Martins, Andre L, Massingham, Tim, Mauceli, Evan, Minx, Patrick, Moltke, Ida, Muzny, Donna M, Nazareth, Lynne V, Nicol, Robert, Nusbaum, Chad, Okwuonu, Geoffrey, Parker, Brian J, Pedersen, Jakob S, Pollard, Katherine S, Raney, Brian J, Rasmussen, Matthew D, Robinson, Jim, Santibanez, Jireh, Siepel, Adam, Sodergren, Erica, Stark, Alexander, Vilella, Albert J, Ward, Lucas D, Warren, Wesley C, Washietl, Stefan, Weinstock, George M, Wen, Jiayu, Wilkinson, Jane, Wilson, Richard K, Worley, Kim C, Xie, Xiaohui, Young, Sarah, Zody, Michael C, Zuk, Or   +88 more
core   +1 more source

Evolutionarily Developed Alternatively Spliced Exons Containing Translation Initiation Sites

Cells
Alternative splicing is essential for the generation of various protein isoforms that are involved in cell differentiation and tissue development. In addition to internal coding exons, alternative splicing affects the exons with translation initiation ...
Jun-ichi Takeda, Takaaki Okamoto, Akio Masuda   +2 more
doaj   +1 more source