Evidence map›Paper›PMID 29367954›Full record

ArticleJournal of the Endocrine Society2017

Mika Moriwaki, Barry Moore, Timothy Mosbruger, Deborah W Neklason, Mark Yandell, Lynn B Jorde, Corrine K Welt

Open access · goldAbstract read
In one paragraph

Article in Journal of the Endocrine Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 26% 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

19 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.

  1. Genetic Variation and Hot Flashes: A Systematic Review.The Journal of clinical endocrinology and metabolism · 2020
    Pooled it
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Review
  9. Observational
  10. Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023
    Review
  11. Article
  12. Observational
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Review
  19. 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

7 authors at 4 institutions in 2 countries.

Mika MoriwakiDivision of Endocrinology, Metabolism and Diabetes.
Barry MooreUStar Center for Genetic Discovery, Department of Human Genetics.
Timothy MosbrugerBioinformatics, Huntsman Cancer Institute, and.
Deborah W NeklasonDivision of Genetic Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, Utah 84112.
Mark YandellUStar Center for Genetic Discovery, Department of Human Genetics.
Lynn B JordeUStar Center for Genetic Discovery, Department of Human Genetics.
Corrine K WeltDivision of Endocrinology, Metabolism and Diabetes.
Star Center · USDiabetes Australia · AUHuntsman Cancer Institute · USUniversity of Utah · US

Funding

UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI KATHARINE S ULLMAN · 1986 to 2026
$72.6M
University of Utah Center for Clinical and Translational ScienceUL1TR001067 · NCATS · UNIVERSITY OF UTAH · PI DERE, WILLARD H., HESS, RACHEL · 2013 to 2017
$19.8M
Human Genetic Variation and DiseaseR35GM118335 · NIGMS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI JORDE, LYNN · 2016 to 2025
$5.1M
VAAST+: Tool for variant prioritization, risk assessment and disease-gene findingR01GM104390 · NIGMS · UNIVERSITY OF UTAH · PI JORDE, LYNN, YANDELL, MARK DOUGLAS · 2013 to 2017
$2.2M
NCATS NIH HHS UL1 TR001067NCI NIH HHS P30 CA042014NIGMS NIH HHS R01 GM104390NIGMS NIH HHS R35 GM118335
6 · The paper itself

Abstract

contextPrimary ovarian insufficiency (POI) results from a premature loss of oocytes, causing infertility and early menopause. The etiology of POI remains unknown in a majority of cases.

objectiveTo identify candidate genes in families affected by POI.

designThis was a family-based genetic study.

settingThe study was performed at two academic institutions. PATIENTS AND OTHER

participantsA family with four generations of women affected by POI (n = 5). Four of these women, three with an associated autoimmune diagnosis, were studied. The controls (n = 387) were recruited for health in old age.

interventionWhole-genome sequencing was performed.

main outcome measureCandidate genes were identified by comparing gene mutations in three family members and 387 control subjects analyzed simultaneously using the pedigree Variant Annotation, Analysis and Search Tool. Data were also compared with that in publicly available databases.

resultsWe identified a heterozygous nonsense mutation in a subunit of RNA polymerase II (

conclusionsThese data support a role for RNA polymerase II mutations as candidates in the etiology of POI. The current data also support results from genome-wide association studies that hypothesize a role for RNA polymerase II subunits in age at menopause in the population.

Indexed as

premature ovarian failureRNA polymerase IIwhole genome sequencing

Identifiers

PMID29367954
PMCPMC5650244
OpenAlexW2787008074

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.