Evidence map›Paper›PMID 39409174›Full record

ArticleInternational journal of molecular sciences2024

A Rare Case of

Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova and 13 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 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
–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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. 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

23 authors.

Andrey MarakhonovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-0972-5118
Elena SerebryakovaSaint-Petersburg State Medical Diagnostic Center (Medical Genetic Center), 194044 Saint-Petersburg, Russia.
Anna MukhinaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia.
Anastasia VechkasovaSaint-Petersburg State Medical Diagnostic Center (Medical Genetic Center), 194044 Saint-Petersburg, Russia.
Nikolai ProkhorovDepartment of Molecular and Cellular Biochemistry, Indiana University, Bloomington, IN 47405, USA.
Irina EfimovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-4672-1447
Natalia BalinovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0001-9493-6544
Anastasia LobenskayaSaint-Petersburg State Medical Diagnostic Center (Medical Genetic Center), 194044 Saint-Petersburg, Russia.ORCID 0000-0002-6399-2962
Tatyana VasilyevaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-6744-0567
Victoria ZabnenkovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Oxana RyzhkovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-1285-9093
Yulia RodinaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia.ORCID 0000-0001-9857-4456
Dmitry PershinDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia.ORCID 0000-0002-6148-7209
Nadezhda SolovevaDepartment of Neonatal and Infantile Pathology, Saint-Petersburg State Pediatric Medical University, 194100 Saint-Petersburg, Russia.
Anna FomenkoDepartment of Neonatal and Infantile Pathology, Saint-Petersburg State Pediatric Medical University, 194100 Saint-Petersburg, Russia.
Djamila SaydaevaState Budgetary Institution "Maternity Hospital" of the Ministry of Healthcare of the Chechen Republic, 364017 Grozny, Russia.
Aset IbishevaState Budgetary Institution "Maternity Hospital" of the Ministry of Healthcare of the Chechen Republic, 364017 Grozny, Russia.
Taisiya IrbaievaDepartment of Maternity and Childhood, Ministry of Healthcare of the Chechen Republic, 364061 Grozny, Russia.
Alexander KoroteevSaint-Petersburg State Medical Diagnostic Center (Medical Genetic Center), 194044 Saint-Petersburg, Russia.ORCID 0000-0002-1568-3217
Rena ZinchenkoResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-3586-3458
Sergey VoroninResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Anna ShcherbinaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia.
Sergey KutsevResearch Centre for Medical Genetics, 115522 Moscow, Russia.

Funding

Ministry of Science and Higher Education of the Russian Federation RF 193021X0029
6 · The paper itself

Abstract

The expanded newborn screening (NBS) program in the Russian Federation was initiated in 2023, among which severe combined immunodeficiency (SCID) is screened using TREC/KREC assays. Here, we report a rare case of a

Indexed as

LymphopeniaNeonatal ScreeningTranscription FactorsTumor Suppressor ProteinsExome SequencingHumansInfant, NewbornMaleMutationSevere Combined ImmunodeficiencyTP63 protein, humanTranscription FactorsTumor Suppressor Proteinscleft-lip/palateectodermal dysplasiaectrodactylyKREClymphopenianewborn screeningTP63TREC

Identifiers

PMID39409174
PMCPMC11482481

What Socratic 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 Socratic graph.