Evidence map›Paper›PMID 39252897›Full record

ArticlemedRxiv : the preprint server for health sciences2024

New

Md Lutfur Rahman, Adeline A Bonnard, Feng Wang, Lyse Ruaud, Fabien Guimiot, Yangping Li, Ines Defer, Yilin Wang, Virginie Marchand, Yuri Motorin and 3 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. 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

13 authors.

Md Lutfur RahmanDepartment of Biochemistry, Emory University School of Medicine, Atlanta, Georgia, USA.
Adeline A BonnardDépartement de Génétique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
Feng WangDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Lyse RuaudDépartement de Génétique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
Fabien GuimiotDépartement de Génétique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
Yangping LiDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Ines DeferDépartement de Génétique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
Yilin WangDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Virginie MarchandUniversité de Lorraine, SMP IBSLor, Biopôle, 9 Avenue de la Forêt de Haye, Vandoeuvre-les-Nancy, France.
Yuri MotorinUniversité de Lorraine, UMR7365 IMoPA, CNRS, Biopôle, 9 Avenue de la Forêt de Haye, Vandoeuvre-les-Nancy, France.
Bing YaoDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Séverine DrunatDépartement de Génétique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
Homa GhaleiDepartment of Biochemistry, Emory University School of Medicine, Atlanta, Georgia, USA.ORCID 0000-0003-0168-4654

Funding

Biogenesis of macromolecular machines for post-transcriptional regulation of translationR35GM138123 · NIGMS · EMORY UNIVERSITY · PI Homa Ghalei · 2020 to 2026
$3.0M
NIGMS NIH HHS R35 GM138123
6 · The paper itself

Abstract

ZNHIT3 (zinc finger HIT type containing protein 3) is an evolutionarily conserved protein required for ribosome biogenesis by mediating the assembly of small nucleolar RNAs (snoRNAs) of class C/D into ribonucleoprotein complexes (snoRNPs). Missense mutations in the gene encoding ZNHIT3 protein have been previously reported to cause PEHO syndrome, a severe neurodevelopmental disorder typically presenting after birth. We discuss here the case of two fetuses from a single family who presented with isolated hydrops during the early second trimester of pregnancy, resulting in intrauterine demise. Autopsy revealed no associated malformation. Through whole-genome quartet analysis, we identified two novel variants within the

Indexed as

developmental disorderfetal hydropsIntrauterine fetal lossPEHO syndromesnoRNP biogenesistranslation

Identifiers

PMID39252897
PMCPMC11383450

What OpenQuestion holds

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LicenceCC BY-ND
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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.