Results 121 to 130 of about 176,213 (311)

Identify truly high-risk TP53-mutated diffuse large B cell lymphoma patients and explore the underlying biological mechanisms

Cell Communication and Signaling
TP53 mutation (TP53-mut) correlates with inferior survival in many cancers, whereas its prognostic role in diffuse large B-cell lymphoma (DLBCL) is still in controversy.
Kai-Xin Du, Yi-Fan Wu, Wei Hua, Zi-Wen Duan, Rui Gao, Jun-Heng Liang, Yue Li, Hua Yin, Jia-Zhu Wu, Hao-Rui Shen, Li Wang, Yang Shao, Jian-Yong Li, Jin-Hua Liang, Wei Xu   +14 more
doaj   +1 more source

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

Molecular Genetics and Metabolism Reports, 2018
A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV.
Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, José María Satizabal Soto   +3 more
doaj   +1 more source

Bioinformatics Profiling Of Missense Mutations

, 2009
The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of ...
I. Nassiri, B. Goliaei, M. Tavassoli
openaire   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

Respiratory Research, 2009
Background Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary arterial hypertension (PAH). While previous studies demonstrated a difference in severity
Wheeler Lisa A, Phillips Charles A, Stanton Krista C, Yu Chang, Hamid Rizwan, Cogan Joy D, Phillips John A, Austin Eric D, Robbins Ivan M, Newman John H, Loyd James E   +10 more
doaj   +1 more source

missense mutation causes familial insulinomatosis and diabetes mellitus.

, 2018
The ?-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing variants have been previously described.
Iacovazzo, Donato;Flanagan, Sarah E;Walker, Emily;Quezado, Rosana;de Sousa Barros, Fernando Antonio;Caswell, Richard;Johnson, Matthew B;Wakeling, Matthew;Brändle, Michael;Guo, Min;Dang, Mary N;Gabrovska, Plamena;Niederle, Bruno;Christ, Emanuel;Jenni, Stefan;Sipos, Bence;Nieser, Maike;Frilling, Andrea;Dhatariya, Ketan;Chanson, Philippe;de Herder, Wouter W;Konukiewitz, Björn;Klöppel, Günter;Stein, Roland;Korbonits, Márta;Ellard, Sian
core   +1 more source

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle [PDF]

, 2017
Background Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete
Carole Charlier, Steffen Heegaard, Vidhya Jagannathan, Charlier, Carole, Agerholm, Jørgen Steen, Fintan J. McEvoy, Cord Drögemüller, Jørgen S. Agerholm, Heegaard, Steffen, McEvoy, Fintan J., Jagannathan, Vidhya, Drögemüller, Cord, McEvoy, Fintan, McEvoy, Fintan J, Agerholm, Jørgen S, Agerholm, Jorgen Steen   +15 more
core   +1 more source

eQTL Meta‐Analysis Reveals Conserved and Population‐Specific Regulatory Variation Underlying Nutritional Trait Evolution and Domestication in Tomato

Advanced Science, EarlyView.
A comprehensive meta‐analysis of expression quantitative trait loci (eQTLs) across five diverse tomato populations reveals a high‐resolution atlas of transcriptional regulation and uncovers conserved and population‐specific regulatory architectures underlying fruit nutritional quality traits, including flavonoids, sugars, organic acids, carotenoids ...
Jiantao Zhao, Xin Wang, Jing Zhang, Ryan McQuinn, Je Min Lee, Itay Gonda, Ari Feder, Yimin Xu, Baike Wang, Qinghui Yu, Denise M. Tieman, Sanwen Huang, Harry Klee, James J. Giovannoni, Zhangjun Fei   +14 more
wiley   +1 more source

De novo missense mutations in neurodevelopmental disorders

, 2019
Thesis (Ph.D.)--University of Washington, 2019Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder (NDD) with a high prevalence in the US (1 in 59 children).
Geisheker, Madeleine
core  

Generation of CCR4/CD7 Bispecific CAR‐T Cells Resistant to Fratricide and Exhaustion

Advanced Science, EarlyView.
The applications of CAR T‐cell therapy in T‐cell malignancies face limitations such as fratricide, effector‐cell exhaustion, and antigen‐escape. Herein, we developed fratricide‐ and exhaustion‐resistant CAR‐T cells that targeted CCR4 and CD7 simultaneously, with optional EGFRt safety switch. Additionally, scRNA‐seq unveiled new molecular targets, which
Sile Li, Yuanxin Li, Asif Rashid, Hong Kee Tan, Shing Chan, Man Yan Hui, Wilson Yau Ki Chan, Kee See Lam, Yinping Liu, Wenwei Tu, Wing Leung   +10 more
wiley   +1 more source