Results 111 to 120 of about 237,110 (353)

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria

Biomedicines
Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement.
Xin Liu, Xinhua Liu, Jinfeng Liu, Junhong Guo, Danyao Nie, Jiantao Wang   +5 more
doaj   +1 more source

His‐MMDM: Multi‐Domain and Multi‐Omics Translation of Histopathological Images with Diffusion Models

Advanced Science, EarlyView.
His‐MMDM is a diffusion model‐based framework for scalable multi‐domain and multi‐omics translation of histopathological images, enabling tasks from virtual staining, cross‐tumor knowledge transfer, and omics‐guided image editing. ABSTRACT Generative AI (GenAI) has advanced computational pathology through various image translation models.
Zhongxiao Li, Tianqi Su, Bin Zhang, Wenkai Han, Sibin Zhang, Guiyin Sun, Yuwei Cong, Xin Chen, Jiping Qi, Yujie Wang, Shiguang Zhao, Hongxue Meng, Peng Liang, Xin Gao   +13 more
wiley   +1 more source

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. [PDF]

, 2018
We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10-7); of these, 16 map outside known risk-associated loci. We make two important
Afaq, Saima, Afzal, Shoaib, Ahlqvist, Emma, Almgren, Peter, Amin, Najaf, An, Ping, Bang, Lia B, Bertoni, Alain G, Bielak, Lawrence F, Bombieri, Cristina, Bork-Jensen, Jette, Brandslund, Ivan, Brody, Jennifer A, Burtt, Noël P, Canouil, Mickaël, Chen, Yii-Der Ida, Cho, Yoon Shin, Christensen, Cramer, Chu, Audrey Y, Cook, James P, de Haan, Hugoline G, Demirkan, Ayse, Eastwood, Sophie V, Eckardt, Kai-Uwe, ExomeBP Consortium, Fischer, Krista, Flannick, Jason, Gambaro, Giovanni, Gan, Wei, GIANT Consortium, Giedraitis, Vilmantas, Graff, Marielisa, Grarup, Niels, Grove, Megan L, Guo, Xiuqing, Gustafsson, Stefan, Hackinger, Sophie, Hai, Yang, Han, Sohee, Highland, Heather M, Hivert, Marie-France, Hu, Yao, Huo, Shaofeng, Isomaa, Bo, Jensen, Richard A, Justice, Anne E, Jäger, Susanne, Jørgensen, Marit E, Jørgensen, Torben, Kim, Bong-Jo, Kim, Sung Soo, Kim, Young Jin, Kitajima, Hidetoshi, Koistinen, Heikki A, Kovacs, Peter, Kravic, Jasmina, Kriebel, Jennifer, Kronenberg, Florian, Käräjämäki, Annemari, Lange, Leslie A, Lecoeur, Cécile, Lee, Jung-Jin, Lehne, Benjamin, Li, Huaixing, Li, Jin, Li, Man, Li-Gao, Ruifang, Ligthart, Symen, Lin, Keng-Hung, Liu, Dajiang J, Lohman, Kurt K, Lu, Yingchang, Läll, Kristi, MAGIC Consortium, Mahajan, Anubha, Malerba, Giovanni, Marouli, Eirini, Marten, Jonathan, Meidtner, Karina, Müller-Nurasyid, Martina, Peloso, Gina Marie, Preuss, Michael, Prins, Bram Peter, Rayner, N William, Robertson, Neil R, Rybin, Denis V, Smith, Albert Vernon, Steinthorsdottir, Valgerdur, Tajes, Juan Fernandez, Taliun, Daniel, Trubetskoy, Vassily Vladimirovich, Tybjærg-Hansen, Anne, Varga, Tibor V, Warren, Helen R, Wessel, Jennifer, Willems, Sara M, Wuttke, Matthias, Yaghootkar, Hanieh, Zhang, Weihua, Zhao, Wei   +99 more
core  

Exome-Based Trio Analysis for Diagnosis of the Cause of Congenital Severe Hemolytic Anemia in a Child [PDF]

, 2022
Klaus Rieneck, Birgitte Lausen, Frederik Banch Clausen, Lars Jønson, Anne Todsen Hansen, Morten Hanefeld Dziegiel   +5 more
openalex   +1 more source

OXidative Stress PREDictor: A Supervised Learning Approach for Annotating Cellular Oxidative Stress States in Inflammatory Cells

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
OxSpred, an eXtreme‐Gradient‐Boosting‐‐based supervised learning model, accurately annotates oxidative stress in innate immune cells at the single‐cell level, providing interpretable embeddings with significant biological relevance. This innovative tool revolutionizes the understanding of innate immune cell functions during inflammation and enhances ...
Po‐Yuan Chen, Tai‐Ming Ko
wiley   +1 more source

Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing [PDF]

, 2021
Ting‐Yi Lin, Y. Chang, Yu‐Jer Hsiao, Yueh Chien, Ying-Chun Jheng, Jing-Rong Wu, Lo‐Jei Ching, De‐Kuang Hwang, Chih‐Chien Hsu, Tai‐Chi Lin, Yu-Bai Chou, Yi-Ming Huang, Shih‐Jen Chen, Yi‐Ping Yang, Ping‐Hsing Tsai   +14 more
openalex   +1 more source

RanBALL: An Ensemble Machine Learning Framework for Accurate Subtype Identification of Pediatric B‐Cell Acute Lymphoblastic Leukemia

Advanced Intelligent Systems, EarlyView.
Here, we present RanBALL, an ensemble random projection‐based model for accurate and cost‐effective identification of B‐cell acute lymphoblastic leukemia subtypes is presented. By preserving patient‐to‐patient distance after dimension reduction by random projection and ensemble learning, RanBALL can facilitate the discovery of B‐ALL subtype‐specific ...
Lusheng Li, Hanyu Xiao, Xinchao Wu, Zhenya Tang, Joseph D. Khoury, Jieqiong Wang, Shibiao Wan   +6 more
wiley   +1 more source

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]

, 2018
Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S, Lamale-Smith, Leah M, Mao, Rong, Melber, Dora J, Miller, Christine E, Moore, Thomas R, Tvrdik, Tatiana, Woelkers, Douglas A   +7 more
core  

Assessing the Power of Exome Chips

PLOS ONE, 2015
Genotyping chips for rare and low-frequent variants have recently gained popularity with the introduction of exome chips, but the utility of these chips remains unclear. These chips were designed using exome sequencing data from mainly American-European individuals, enriched for a narrow set of common diseases.
Page, Christian, Baranzini, Sergio E., Mevik, Bjørn-Helge, Bos, Steffan Daniel, Harbo, Hanne Flinstad, Kulle, Bettina   +5 more
openaire   +6 more sources

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source