Evidence map›Paper›PMID 38041405›Full record

ArticleHGG advances2024

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L Del Bel, Loryn Byres, Susan Lin, Joshua Dalmann, Areesha Salman, Jill Mwenifumbo, Bhavi P Modi and 5 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HGG advances, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 34% of its field
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

4 citing papers in PubMed, 2 citations in OpenAlex.

  1. Human germline biallelic loss-of-functionJournal of human immunity · 2026
    Article
  2. Article
  3. Article
  4. Tauopathy in AD: Therapeutic Potential of MARK-4.Current Alzheimer research · 2024
    Review
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

15 authors at 1 institution in 1 country.

Simran SamraDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada; Experimental Medicine Program, Department of Medicine, The University of British Columbia, Vancouver, BC V5Z 1M9, Canada.
Mehul SharmaDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Maryam Vaseghi-ShanjaniDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada; Experimental Medicine Program, Department of Medicine, The University of British Columbia, Vancouver, BC V5Z 1M9, Canada.
Kate L Del BelDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Loryn ByresDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Susan LinDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Joshua DalmannDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Areesha SalmanDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Jill MwenifumboDepartment of Medical Genetics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Bhavi P ModiDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Catherine M BiggsDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Cyrus BoelmanDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Lorne A ClarkeDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Anna LehmanDepartment of Medical Genetics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Stuart E TurveyDepartment of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC V6H 3N1, Canada. Electronic address: sturvey@cw.bc.ca.
University of British Columbia · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Microtubule affinity-regulating kinase 4 (MARK4) is a serine/threonine kinase that plays a key role in tau phosphorylation and regulation of the mammalian target of rapamycin (mTOR) pathway. Abnormal tau phosphorylation and dysregulation of the mTOR pathway are implicated in neurodegenerative and neurodevelopmental disorders. Here, we report a gain-of-function variant in

Indexed as

Gain of Function MutationNeurodevelopmental DisordersChildHumansMechanistic Target of Rapamycin Complex 1MicrotubulesProtein Serine-Threonine KinasesMARK4 protein, humanMechanistic Target of Rapamycin Complex 1Protein Serine-Threonine KinasesMARK4microtubule stabilizationmTOR complex 1neurodevelopmental disorderpost-translational modifications

Identifiers

PMID38041405
PMCPMC10764283
OpenAlexW4389242863

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.