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Exome sequencing identifies a disease variant of the mitochondrial ATP‐Mg/Pi carrier SLC25A25 in two families with kidney stones
M. Reza Jabalameli, Fiona M. Fitzpatrick, Roberto Colombo, Sarah A. Howles, Gary Leggatt, Valerie Walker, Akira Wiberg, Edmund R. S. Kunji, Sarah Ennis
Aug 11, 2021
Abstract: Background: Calcium kidney stones are common and recurrences are often not preventable by available empiric remedies. Their etiology is multifactorial and polygenic, and an increasing number of genes are implicated....
Original Article Original Articles calcium kidney stones Calcium Signaling mitochondrial adenine nucleotide metastasis mitochondrial transporter purinergic signaling
Published by: Molecular Genetics & Genomic Medicine
Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.
M Reza Jabalameli, Fiona M Fitzpatrick, Roberto Colombo, Sarah A Howles, Gary Leggatt, Valerie Walker, Akira Wiberg, Edmund RS Kunji, Sarah Ennis
Aug 16, 2021
BACKGROUND: Calcium kidney stones are common and recurrences are often not preventable by available empiric remedies. Their etiology is multifactorial and polygenic, and an increasing number of genes are implicated. Their...
calcium kidney stones Calcium Signaling mitochondrial adenine nucleotide metastasis mitochondrial transporter purinergic signaling Adolescent Adult Aged Alleles Amino Acid Sequence Biological Specimen Banks Biomarkers Calcium-Binding Proteins Family Female Genes Mitochondrial Genetic Predisposition to Disease genetic variation Genotype Humans Kidney Calculi Male Middle Aged Mitochondrial Membrane Transport Proteins Pedigree Polymorphism Single Nucleotide Protein Conformation Structure-Activity Relationship Symptom Assessment United Kingdom Exome Sequencing Young Adult
Grade Level Placement for Refugee Students
Suzanne Fitzpatrick
Dec 20, 2018
As a university student and teacher in Toronto I studied, lived, worked with and taught refugees from almost all over the world. In the mid-1990s I had a pivotal conversation with a colleague who confided, “I lost my surname and...
Published by: The Morning Watch: Educational and Social Analysis
Bastard Child Born at the Seashore
Samantha Fitzpatrick
Oct 28, 2014
Published by: Memorial University
Experiences of dyadic sport friendships as a function of self and partner attachment characteristics.
Objectives: To examine the link between adolescent-parent attachment relationships and experiences of friendship quality in the context of the Actor-Partner Interdependence Model.
Design and method: One...
Design and method: One...
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Anja Thormann, Mihail Halachev, William McLaren, David J Moore, Victoria Svinti, Archie Campbell, Shona M Kerr, Marc Tischkowitz, Sarah E Hunt, Malcolm G Dunlop, Matthew E Hurles, Caroline F Wright, Helen V Firth, Fiona Cunningham, David R FitzPatrick
Feb 07, 2020
We aimed to develop an efficient, flexible and scalable approach to diagnostic genome-wide sequence analysis of genetically heterogeneous clinical presentations. Here we present G2P ( www.ebi.ac.uk/gene2phenotype ) as an online...
The mitochondrial transporter SLC25A25 links ciliary TRPP2 signaling and cellular metabolism.
Alexis Hofherr, Claudia Seger, Fiona Fitzpatrick, Tilman Busch, Elisabeth Michel, Jingting Luan, Lea Osterried, Frieder Linden, Albrecht Kramer-Zucker, Barbara Wakimoto, Conny Schütze, Nils Wiedemann, Anna Artati, Jerzy Adamski, Gerd Walz, Edmund RS Kunji, Craig Montell, Terry Watnick, Michael Köttgen
Nov 09, 2018
Cilia are organelles specialized in movement and signal transduction. The ciliary transient receptor potential ion channel polycystin-2 (TRPP2) controls elementary cilia-mediated physiological functions ranging from male...
Bastard Child Born at the Seashore
Samantha Fitzpatrick
Oct 28, 2014
Published by: Memorial University
Patient-centred outcomes of imaging tests
Matthew J Thompson, Monica Zigman Suchsland, Victoria Hardy, Danielle C Lavallee, Sally Lord, Emily Beth Devine, Jeffrey G Jarvik, Steven Findlay, Thomas A Trikalinos, Fiona M Walter, Roger Chou, Beverly B Green, Karen J Wernli, Annette L Fitzpatrick, Patrick M Bossuyt
Apr 28, 2022
BACKGROUND: Imaging tests are one of the most frequently used diagnostic modalities in healthcare, but the benefits of their direct impacts on clinical decision-making have been countered by concerns that they can be overused....
Experiences of dyadic sport friendships as a function of self and partner attachment characteristics.
Objectives: To examine the link between adolescent-parent attachment relationships and experiences of friendship quality in the context of the Actor-Partner Interdependence Model.
Design and method: One...
Design and method: One...
Grade Level Placement for Refugee Students
Suzanne Fitzpatrick
Dec 20, 2018
As a university student and teacher in Toronto I studied, lived, worked with and taught refugees from almost all over the world. In the mid-1990s I had a pivotal conversation with a colleague who confided, “I lost my surname and...
Published by: The Morning Watch: Educational and Social Analysis
Patient-centred outcomes of imaging tests
Matthew J Thompson, Monica Zigman Suchsland, Victoria Hardy, Danielle C Lavallee, Sally Lord, Emily Beth Devine, Jeffrey G Jarvik, Steven Findlay, Thomas A Trikalinos, Fiona Walter, Roger Chou, Beverly B Green, Karen J Wernli, Annette L Fitzpatrick, Patrick M Bossuyt
Oct 11, 2021
BACKGROUND: Imaging tests are one of the most frequently used diagnostic modalities in healthcare, but the benefits of their direct impacts on clinical decision-making have been countered by concerns that they can be overused....
Doctoral Education, Pedagogy, and Autoethnography
This special issue of the Morning Watch brings together papers written for a doctoral course in the Faculty of Education. As facilitators of ED 702A/B Advanced Research Methodology in Education, a core course in the Faculty of...
Published by: The Morning Watch: Educational and Social Analysis
Emerging researcher pedagogies
This special edition of the Morning Watch is the second collection of papers from the Faculty of Education doctoral students who are participating in ED 702 A/B Advanced Research Methodology in Education in 2017/18. ED 702 is a...
Published by: The Morning Watch: Educational and Social Analysis
Across-the-World Automated Optimization and Continuous-Flow Synthesis of Pharmaceutical Agents Operating Through a Cloud-Based Server.
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