α‐Synuclein ( SNCA ) A30G Mutation as a Cause of a Complex Phenotype Without Parkinsonism

2021 ◽  
Vol 36 (9) ◽  
pp. 2209-2212 ◽  
Author(s):  
Maria Sokratous ◽  
Marianthi Breza ◽  
Konstantin Senkevich ◽  
Ziv Gan‐Or ◽  
Stefania Kalampokini ◽  
...  
Keyword(s):  
Complex Phenotype

Behavioral Genetics: Investigating the genes of a complex phenotype in fruit flies

2016 ◽  
Author(s):  
Craig Stanley ◽  
Charles Hadley King ◽  
Michelle Thornton ◽  
Rob Kulathinal
Keyword(s):  
Behavioral Genetics ◽  
Fruit Flies ◽  
Complex Phenotype

A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome

2021 ◽  
Vol 64 (5) ◽  
pp. 104190
Author(s):  
Claudia Santoro ◽  
Simona Riccio ◽  
Federica Palladino ◽  
Ferdinando Aliberti ◽  
Marco Carotenuto ◽  
...  
Keyword(s):  
Complex Phenotype ◽  
Microdeletion Syndrome ◽  
Nf1 Microdeletion Syndrome

scholarly journals Intratumoral CD103+ CD8+ T cells predict response to PD-L1 blockade

2021 ◽  
Vol 9 (4) ◽  
pp. e002231
Author(s):  
Romain Banchereau ◽  
Avantika S. Chitre ◽  
Alexis Scherl ◽  
Thomas D. Wu ◽  
Namrata S. Patil ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Clinical Trials ◽  
Cancer Progression ◽  
Cd8 T Cells ◽  
Clonal Expansion ◽  
T Cell Response ◽  
High Dimensional ◽  
Cancer Clinical Trials ◽  
Complex Phenotype ◽  
Cytotoxic Proteins

BackgroundCD8+ tissue-resident memory T (TRM) cells, marked by CD103 (ITGAE) expression, are thought to actively suppress cancer progression, leading to the hypothesis that their presence in tumors may predict response to immunotherapy.MethodsHere, we test this by combining high-dimensional single-cell modalities with bulk tumor transcriptomics from 1868 patients enrolled in lung and bladder cancer clinical trials of atezolizumab (anti-programmed cell death ligand 1 (PD-L1)).ResultsITGAE was identified as the most significantly upregulated gene in inflamed tumors. Tumor CD103+ CD8+ TRM cells exhibited a complex phenotype defined by the expression of checkpoint regulators, cytotoxic proteins, and increased clonal expansion.ConclusionsOur analyses indeed demonstrate that the presence of CD103+ CD8+ TRM cells, quantified by tracking intratumoral CD103 expression, can predict treatment outcome, suggesting that patients who respond to PD-1/PD-L1 blockade are those who exhibit an ongoing antitumor T-cell response.

Uniparental disomy (UPD) of multiple chromosomes in a newborn with a complex phenotype

2021 ◽  
Vol 132 ◽  
pp. S234
Author(s):  
Katarzyna Thompson ◽  
Jaime Lopes ◽  
Quoc-Huong Cabral ◽  
Ross Rowsey ◽  
Nicole Hoppman
Keyword(s):  
Uniparental Disomy ◽  
Complex Phenotype

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants

2021 ◽  
Author(s):  
Francisco Javier Cotrina-Vinagre ◽  
María Elena Rodríguez-García ◽  
Elena Martín-Hernández ◽  
Cristina Durán-Aparicio ◽  
Abraham Merino-López ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Complex Phenotype

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

2018 ◽  
Vol 95 (2) ◽  
pp. 329-333 ◽  
Author(s):  
Cécile Méjécase ◽  
Aurélie Hummel ◽  
Saddek Mohand-Saïd ◽  
Camille Andrieu ◽  
Said El Shamieh ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Cone Dystrophy ◽  
Complex Phenotype ◽  
Whole Exome

scholarly journals The Genetics of Monogenic Frontotemporal Dementia

2015 ◽  
Vol 9 (3) ◽  
pp. 219-229 ◽  
Author(s):  
Leonel T. Takada
Keyword(s):  
Frontotemporal Dementia ◽  
Autosomal Dominant ◽  
Positive Family History ◽  
Chromosome 9 ◽  
Complex Phenotype ◽  
Reading Frame ◽  
Protein Tau ◽  
Paget Disease ◽  
Fused In Sarcoma ◽  
Spectrum Disorders

ABSTRACT Around 10-15% of patients diagnosed with frontotemporal dementia (FTD) have a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the identification of mutations in MAPT(microtubuleassociated protein tau gene) in 1998, over 10 other genes have been associated with FTD spectrum disorders, discussed in this review. Along with MAPT, mutations in GRN(progranulin) and C9orf72(chromosome 9 open reading frame 72) are the most commonly identified in FTD cohorts. The association of FTD and motor neuron disease (MND) can be caused by mutations in C9orf72and other genes, such as TARDBP(TAR DNA-binding protein), FUS(fused in sarcoma), UBQLN2(ubiquilin 2). Multisystem proteinopathy is a complex phenotype that includes FTD, Paget disease of the bone, inclusion body myopathy and MND, and can be due to mutations in VCP(valosing containing protein) and other recently identified genes.

scholarly journals Aggregation of Omic Data and Secretome Prediction Enable the Discovery of Candidate Plasma Biomarkers for Beef Tenderness

2020 ◽  
Vol 21 (2) ◽  
pp. 664 ◽  
Author(s):  
Sabrina Boudon ◽  
Joelle Henry-Berger ◽  
Isabelle Cassar-Malek
Keyword(s):  
Plasma Proteins ◽  
Biological Information ◽  
Plasma Proteome ◽  
Complex Phenotype ◽  
Beef Tenderness ◽  
Plasma Biomarkers ◽  
Bovine Plasma ◽  
Computational Reconstruction ◽  
Beef Sector ◽  
Omic Data

Beef quality is a complex phenotype that can be evaluated only after animal slaughtering. Previous research has investigated the potential of genetic markers or muscle-derived proteins to assess beef tenderness. Thus, the use of low-invasive biomarkers in living animals is an issue for the beef sector. We hypothesized that publicly available data may help us discovering candidate plasma biomarkers. Thanks to a review of the literature, we built a corpus of articles on beef tenderness. Following data collection, aggregation, and computational reconstruction of the muscle secretome, the putative plasma proteins were searched by comparison with a bovine plasma proteome atlas and submitted to mining of biological information. Of the 44 publications included in the study, 469 unique gene names were extracted for aggregation. Seventy-one proteins putatively released in the plasma were revealed. Among them 13 proteins were predicted to be secreted in plasma, 44 proteins as hypothetically secreted in plasma, and 14 additional candidate proteins were detected thanks to network analysis. Among these 71 proteins, 24 were included in tenderness quantitative trait loci. The in-silico workflow enabled the discovery of candidate plasma biomarkers for beef tenderness from reconstruction of the secretome, to be examined in the cattle plasma proteome.

scholarly journals Complex phenotype?environment associations revealed in an East African cyprinid

2007 ◽  
Vol 20 (3) ◽  
pp. 1171-1181 ◽  
Author(s):  
R. B. LANGERHANS ◽  
L. J. CHAPMAN ◽  
T. J. DEWITT
Keyword(s):  
East African ◽  
Complex Phenotype

scholarly journals Computational modeling of anthocyanin pathway evolution

2019 ◽  
Author(s):  
Lucas C. Wheeler ◽  
Stacey D. Smith
Keyword(s):  
Metabolic Pathways ◽  
Flower Color ◽  
Complex Phenotype ◽  
Pathway Evolution ◽  
Anthocyanin Pathway ◽  
Trade Offs ◽  
Wide Range ◽  
Pathway Function ◽  
Simple Kinetic Model ◽  
New Mutations

AbstractAlteration of metabolic pathways is a key component of the evolution of new phenotypes. Flower color is a striking example of the importance of metabolic evolution in a complex phenotype, wherein shifts in the activity of the underlying pathway lead to a wide range of pigments. Although experimental work has identified common classes of mutations responsible for transitions among colors, we lack a unifying model that relates pathway function and activity to the evolution of distinct pigment phenotypes. One challenge in creating such a model is the branching structure of pigment pathways, which may lead to evolutionary trade-offs due to competition for shared substrates. In order to predict the effects of shifts in enzyme function and activity on pigment production, we created a simple kinetic model of a major plant pigmentaion pathway: the anthocyanin pathway. This model describes the production of the three classes of blue, purple and red anthocyanin pigments, and accordingly, includes multiple branches and substrate competition. We first studied the general behavior of this model using a realistic, functional set of parameters. We then stochastically evolved the pathway toward a defined optimum and and analyzed the patterns of fixed mutations. This approach allowed us to quantify the probability density of trajectories through pathway state space and identify the types and number of changes. Finally, we examine whether the observed trajectories and constraints help to explain experimental observations, i.e., the predominance of mutations which change color by altering the function of branching genes in the pathway. These analyses provide a theoretical framework which can be used to predict the consequences of new mutations in terms of both pigment phenotypes and pleiotropic effects.

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