Evidence map›Paper›PMID 31208052›Full record

ArticleGenes2019

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Martina Pecimonova, Daniela Kluckova, Frantisek Csicsay, Kamila Reblova, Jan Krahulec, Dagmar Procházkova, Ludovit Skultety, Ludevit Kadasi, Andrea Soltysova

Abstract read
In one paragraph

Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

9 authors.

Martina PecimonovaDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia. mata.pecimonova@gmail.com.
Daniela KluckovaDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia. nela.kluckova@gmail.com.
Frantisek CsicsayInsitute of Virology, Biomedical Research Center, Slovak Academy of Sciences, Dubravska cesta 9, 845 05 Bratislava, Slovakia. frantisek.csicsay@savba.sk.
Kamila ReblovaCentral European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic. kristina@monoceros.physics.muni.cz.
Jan KrahulecDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia. jan.krahulec@uniba.sk.ORCID 0000-0002-9719-3675
Dagmar ProcházkovaDepartment of Pediatrics, Medical Faculty of Masaryk University and University Hospital Brno, Černopolní 9, 625 00 Brno, Czech Republic. Prochazkova.Dagmar@fnbrno.cz.
Ludovit SkultetyInsitute of Virology, Biomedical Research Center, Slovak Academy of Sciences, Dubravska cesta 9, 845 05 Bratislava, Slovakia. viruludo@savba.sk.
Ludevit KadasiDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia. ludevit.kadasi@uniba.sk.
Andrea SoltysovaDepartment of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia. soltysova@fns.uniba.sk.ORCID 0000-0002-1402-3583

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The molecular genetics of well-characterized inherited diseases, such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) predominantly caused by mutations in the phenylalanine hydroxylase (

Indexed as

BiopterinsComputer SimulationGenotypeHep G2 CellsHumansMutation, MissensePhenylalanine HydroxylasePhenylketonuriasStructure-Activity RelationshipBiopterinsPhenylalanine HydroxylasesapropterinBH4functional studiesmissense variantsphenylalanine hydroxylasephenylketonuria

Identifiers

PMID31208052
PMCPMC6628251

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.