Results 191 to 200 of about 1,041,152 (399)

Splenomegaly in predicting the survival of patients with advanced primary liver cancer treated with immune checkpoint inhibitors

Cancer Medicine, Volume 11, Issue 24, Page 4880-4888, December 2022., 2022
Kaplan–Meier analysis demonstrated that patients with splenomegaly had worse OS than those without splenomegaly. Abstract Background & aims Immune checkpoint inhibitors (ICIs) play an increasingly important role in the treatment of primary liver cancer (PLC). Some patients with PLC experience symptoms of splenomegaly.
Lu‐Shan Xiao, Cheng‐Yi Hu, Hao Cui, Rui‐Ning Li, Chang Hong, Qi‐Mei Li, Chao‐Yi Huang, Zhong‐Yi Dong, Hong‐Bo Zhu, Li Liu   +9 more
wiley   +1 more source

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency [PDF]

, 2010
Alexandre Bolze, Minji Byun, David McDonald, Neil V. Morgan, Avinash Abhyankar, Lakshmanane Premkumar, Anne Puel, Chris M. Bacon, Frédéric Rieux‐Laucat, Ki Pang, Alison Britland, Laurent Abel, Andrew J. Cant, Eamonn R. Maher, Stefan J. Riedl, Sophie Hambleton, Jean‐Laurent Casanova   +16 more
openalex   +1 more source

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Circulation Research, 2019
Rationale: Familial recurrence studies provide strong evidence for a genetic component to the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease phenotype. Rare genetic variants have been
D. Page, Matthieu J. Miossec, Simon G. Williams, Richard M Monaghan, E. Fotiou, H. Cordell, Louise Sutcliffe, A. Topf, M. Bourgey, G. Bourque, R. Eveleigh, S. Dunwoodie, D. Winlaw, S. Bhattacharya, J. Breckpot, K. Devriendt, M. Gewillig, J. Brook, Kerry Setchfield, F. Bu'Lock, J. O’Sullivan, G. Stuart, C. Bezzina, B. Mulder, A. Postma, J. Bentham, M. Baron, S. Bhaskar, G. Black, W. G. Newman, Kathryn E. Hentges, G. Lathrop, M. Santibanez-Koref, B. Keavney   +33 more
semanticscholar   +1 more source

Targeted Therapies in Myelofibrosis: Present Landscape, Ongoing Studies, and Future Perspectives

American Journal of Hematology, EarlyView.
ABSTRACT Myelofibrosis (MF) is a myeloproliferative neoplasm that is accompanied by driver JAK2, CALR, or MPL mutations in more than 90% of cases, leading to constitutive activation of the JAK–STAT pathway. MF is a multifaceted disease characterized by trilineage myeloid proliferation with prominent megakaryocyte atypia and bone marrow fibrosis, as ...
Giuseppe G. Loscocco, Paola Guglielmelli
wiley   +1 more source

Prognosis prediction of stage IV colorectal cancer patients by mRNA transcriptional profile

Cancer Medicine, Volume 11, Issue 24, Page 4900-4912, December 2022., 2022
This study aimed to clarify the prognostic factors for stage IV CRC patients undergoing primary cancer resection but not liver metastasis resection. WES and RNA‐Seq were used to sequence primary cancer tissues of 78 and 84 patients, respectively. Models were established to stratify the prognosis and to predict individual patient prognosis.
Bian Wu, Jinwei Yang, Zhiwei Qin, Hongping Yang, Jingyi Shao, Yun Shang   +5 more
wiley   +1 more source

O1‐03‐02: Exome sequencing of late‐onset extended Alzheimer families [PDF]

, 2010
Stephan Züchner, Gary W. Beecham, Jonathan L. Haines, Margaret A. Pericak‐Vance   +3 more
openalex   +1 more source

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Nature Communications, 2019
The diagnostic yield of exome and genome sequencing remains low (8–70%), due to incomplete knowledge on the genes that cause disease. To improve this, we use RNA-seq data from 31,499 samples to predict which genes cause specific disease phenotypes, and ...
Patrick Deelen, Sipko van Dam, J. Herkert, J. Karjalainen, H. Brugge, K. Abbott, C. V. van Diemen, P. A. van der Zwaag, E. Gerkes, E. Zonneveld-Huijssoon, Jelkje J Boer-Bergsma, Pytrik Folkertsma, Tessa E. Gillett, K. J. van der Velde, Roan Kanninga, P. C. van den Akker, S. Jan, E. T. Hoorntje, W. P. te Rijdt, Y. Vos, J. Jongbloed, C. V. van Ravenswaaij-Arts, R. Sinke, B. Sikkema‐Raddatz, W. S. Kerstjens-Frederikse, M. Swertz, L. Franke   +26 more
semanticscholar   +1 more source

Autosomal recessive hyper‐IgE syndrome due to DOCK8 deficiency: An adjunctive role for omalizumab

Journal of Cutaneous Immunology and Allergy, Volume 5, Issue 6, Page 222-226, December 2022., 2022
We report a rare case of AR‐HIES with DOCK8 deficiency in a young male that was successfully treated by infection management, skincare, diet elimination, and omalizumab. Abstract Autosomal recessive hyper‐IgE syndrome (AR‐HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe ...
Kim Han Nguyen, Quynh Anh Nguyen, Mai Hoang Tran, Thu Thuy Can, Mai Thi Vu, Nam Sy Vo, Hieu Chu Chi, Sheryl van Nunen, Dinh Van Nguyen   +8 more
wiley   +1 more source

Mapping Whole Exome Sequencing to In Vivo Imaging with Stereotactic Localization and Deep Learning [PDF]

arXiv
This study presents a multi-faceted approach combining stereotactic biopsy with standard clinical open-craniotomy for sample collection, voxel-wise analysis of MR images, regression-based Generalized Additive Models (GAM), & whole-exome sequencing.
arxiv  

Prior Knowledge based mutation prioritization towards causal variant finding in rare disease [PDF]

arXiv, 2017
How do we determine the mutational effects in exome sequencing data with little or no statistical evidence? Can protein structural information fill in the gap of not having enough statistical evidence? In this work, we answer the two questions with the goal towards determining pathogenic effects of rare variants in rare disease. We take the approach of
arxiv