Evidence map›Paper›PMID 41714299›Full record

ArticlePhysiological reports2026

Neurodevelopmental disorder-causing GRIN1 Y647S variant alters red blood cell physiology in mice.

Sylvia C Okafor, Wendy Horsfall, Peter S B Finnie, Caroline Holicka, Tao Wen, Behrooz Khatir, Melika Loriamini, Ali Salahpour, Kevin Golovin, Donald R Branch and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Physiological reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Sylvia C OkaforDepartment of Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0009-0009-3808-3685
Wendy HorsfallDepartment of Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada.
Peter S B FinnieDepartment of Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada.
Caroline HolickaDepartment of Biology, McMaster University, Hamilton, Ontario, Canada.
Tao WenDepartment of Mechanical and Industrial Engineering, University of Toronto, Toronto, Ontario, Canada.
Behrooz KhatirDepartment of Mechanical and Industrial Engineering, University of Toronto, Toronto, Ontario, Canada.
Melika LoriaminiCanadian Blood Services, Toronto, Ontario, Canada.
Ali SalahpourDepartment of Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada.
Kevin GolovinDepartment of Mechanical and Industrial Engineering, University of Toronto, Toronto, Ontario, Canada.
Donald R BranchCanadian Blood Services, Toronto, Ontario, Canada.
Graham R ScottDepartment of Biology, McMaster University, Hamilton, Ontario, Canada.
Landon J EdgarDepartment of Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada.
Maggie L Kalev-ZylinskaDepartment of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.ORCID https://orcid.org/0000-0001-8378-8048
Amy J RamseyDepartment of Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada.ORCID https://orcid.org/0000-0002-2717-5279

Funding

Canadian Institutes of Health Research (CIHR) 169153CureGRIN Research FoundationSimons Foundation Autism Research Initiative (SFARI)
6 · The paper itself

Abstract

GRIN Disorder is a rare neurodevelopmental disease caused by pathogenic variants in GRIN genes encoding subunits of the N-methyl-D-aspartate receptor (NMDAR). GRIN Disorder presents with a wide spectrum of neurological symptoms and currently lacks effective therapeutics and clinically accessible biomarkers to stratify disease severity or monitor treatment response. While NMDARs are well-studied in the central nervous system, they are also expressed in peripheral blood cells, including red blood cells (RBCs), where they modulate calcium signaling and cell function. Here we have used well-established in vivo and ex vivo methods to investigate hematological (primarily RBC-linked) phenotypes in transgenic mice carrying heterozygous Grin1 Y647S (Grin1

Indexed as

ErythrocytesNerve Tissue ProteinsReceptors, N-Methyl-D-AspartateAnimalsErythropoiesisErythropoietinFemaleMiceMice, TransgenicErythropoietinGprin1 protein, mouseNerve Tissue ProteinsReceptors, N-Methyl-D-AspartatebiomarkerGluN1GRIN1‐related NDDGRIN disordermouse modelNMDA receptornon‐neuronalpathogenic variantred blood cells

Identifiers

PMID41714299
PMCPMC12920068

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.