Evidence map›Paper›PMID 34172489›Full record

ArticleDiabetes care2021

Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation.

Niklas Rutsch, Chester E Chamberlain, Wesley Dixon, Lauren Spector, Lisa R Letourneau-Freiberg, Wint W Lwin, Louis H Philipson, Alexander Zarbock, Karline Saintus, Juehu Wang and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in Diabetes care, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.6field-weighted citation impact, top 16% 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

12 citing papers in PubMed, 14 citations in OpenAlex.

  1. Gain-of-function mutation inbioRxiv : the preprint server for biology · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. INTEGRIN FUNCTION IN LEUKOCYTE-MEDIATED INFLAMMATION-ACTINOPATHIES IN IMMUNE DISEASES.Transactions of the American Clinical and Climatological Association · 2025
    Review
  7. Genetics of type-1 diabetes.Diabetology international · 2024
    Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
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

13 authors at 3 institutions in 2 countries.

Niklas RutschDepartment of Laboratory Medicine, University of California, San Francisco, San Francisco, San Francisco, CA.
Chester E ChamberlainDiabetes Center, University of California, San Francisco, San Francisco, San Francisco, CA.
Wesley DixonDepartment of Laboratory Medicine, University of California, San Francisco, San Francisco, San Francisco, CA.
Lauren SpectorDepartment of Laboratory Medicine, University of California, San Francisco, San Francisco, San Francisco, CA.
Lisa R Letourneau-FreibergSection of Adult and Pediatric Endocrinology, Diabetes, and Metabolism and the Kovler Diabetes Center, The University of Chicago, Chicago, IL.
Wint W LwinDiabetes Center, University of California, San Francisco, San Francisco, San Francisco, CA.
Louis H PhilipsonSection of Adult and Pediatric Endocrinology, Diabetes, and Metabolism and the Kovler Diabetes Center, The University of Chicago, Chicago, IL.
Alexander ZarbockDepartment of Anesthesiology, Intensive Care, and Pain Medicine, University Hospital Münster, University of Münster, Münster, Germany.
Karline SaintusDiabetes Center, University of California, San Francisco, San Francisco, San Francisco, CA.
Juehu WangDiabetes Center, University of California, San Francisco, San Francisco, San Francisco, CA.
Michael S GermanDiabetes Center, University of California, San Francisco, San Francisco, San Francisco, CA michael.german@ucsf.edu mark.anderson@ucsf.edu clifford.lowell@ucsf.edu.ORCID 0000-0003-3833-7680
Mark S AndersonDiabetes Center, University of California, San Francisco, San Francisco, San Francisco, CA michael.german@ucsf.edu mark.anderson@ucsf.edu clifford.lowell@ucsf.edu.
Clifford A LowellDepartment of Laboratory Medicine, University of California, San Francisco, San Francisco, San Francisco, CA michael.german@ucsf.edu mark.anderson@ucsf.edu clifford.lowell@ucsf.edu.
University of California, San Francisco · USUniversity of Chicago · USUniversity of Münster · DE

Funding

Research BaseP30DK063720 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GERMAN, MICHAEL S · 2003 to 2019
$21.8M
Pilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI RONALD N COHEN · 2013 to 2026
$20.9M
DIABETES, ENDOCRINOLOGY &METABOLISM TRAINING PROGRAMT32DK007418 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI EDWARD C HSIAO · 1986 to 2026
$14.3M
Monogenic Diabetes: Next Generation Diagnosis, Treatment and ComplicationsR01DK104942 · NIDDK · UNIVERSITY OF CHICAGO · PI GREELEY, SIRI ATMA W., PHILIPSON, LOUIS H. · 2016 to 2024
$4.7M
BD FACSAria Fusion Cell SorterS10OD021822 · OD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LEE, MICHAEL R. · 2016 to 2016
$573k
NIDDK NIH HHS P30 DK020595NIDDK NIH HHS P30 DK063720NIDDK NIH HHS R01 DK104942NIDDK NIH HHS T32 DK007418NIH HHS S10 OD021822
6 · The paper itself

Abstract

objectiveMultiple genome-wide association studies have identified a strong genetic linkage between the RESEARCH DESIGN AND

methodsWe identified a 24-year-old individual with T1D and other autoimmune and inflammatory conditions. The proband and first-degree relatives were recruited for whole-exome sequencing. Functional studies of the protein variant were performed using a cell line and primary myeloid immune cells collected from family members.

resultsSequencing identified a de novo

conclusionsSKAP2 plays a key role in myeloid cell activation and migration. This particular mutation in a patient with T1D and multiple autoimmune conditions implicates a role for activating

Indexed as

Autoimmune DiseasesDiabetes Mellitus, Type 1Intracellular Signaling Peptides and ProteinsAdultGenome-Wide Association StudyHumansMutationPhenotypeYoung AdultIntracellular Signaling Peptides and Proteinssrc kinase associated phosphoprotein 2

Identifiers

PMID34172489
PMCPMC8385470
OpenAlexW3177294992

What OpenQuestion holds

Textmetadata
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.