Results 121 to 130 of about 176,215 (308)
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 +9 more
wiley +1 more source
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 +10 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
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 +14 more
wiley +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 +15 more
core +1 more source
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 +10 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
DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics
Advanced Science, EarlyView.This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei +12 more
wiley +1 more source
C1q deficiency: Identification of a novel missense mutation and treatment with fresh frozen plasma
, 2012 A Turkish patient with C1q deficiency presented with a lupus-like disease, and a new missense mutation at A chain is presented. To characterize the genetic defect, all exons of the genes for the A, B, and C chains of C1q were sequenced in the patient ...
Topaloglu, Rezan +5 more
core +2 more sources