Evidence map›Paper›PMID 37810882›Full record

ArticleFrontiers in endocrinology2023

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Nina Wieczorek-Cichecka, Małgorzata Piotrowicz and 11 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. The Association ofBiomolecules · 2025
    Article
  5. 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

21 authors.

Kinga SałacińskaDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Iwona PinkierDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Lena RutkowskaDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Danuta Chlebna-SokółDepartment of Bone Metabolic Diseases, University Centre of Paediatric, Medical University of Lodz, Lodz, Poland.
Elżbieta Jakubowska-PietkiewiczDepartment of Pediatrics, Newborn Pathology and Bone Metabolic Diseases, Medical University of Lodz, Lodz, Poland.
Izabela MichałusDepartment of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Łukasz KępczyńskiDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Dominik SalachnaDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Nina Wieczorek-CicheckaDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Małgorzata PiotrowiczDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Tatiana ChilarskaDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Aleksander JamsheerDepartment of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Paweł MatusikDepartment of Pediatrics, Pediatric Obesity and Metabolic Bone Diseases, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
Małgorzata WilkDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
Elżbieta PetriczkoDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
Maria GiżewskaDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
Iwona StecewiczDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
Mieczysław WalczakDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
Magda Rybak-KrzyszkowskaDepartment of Obstetrics and Perinatology, University Hospital, Kraków, Poland.
Andrzej LewińskiDepartment of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Agnieszka GachDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%-90% of cases have dominantly inherited heterozygous pathogenic variants located in the

Indexed as

Collagen Type IOsteogenesis ImperfectaCollagen Type I, alpha 1 ChainHigh-Throughput Nucleotide SequencingHumansMutationPolandCollagen Type ICollagen Type I, alpha 1 ChainCollagen Type I, alpha2 SubunitCOL1A1COL1A2collagen type Iconnective tissue disordernext-generation sequencingosteogenesis imperfecta

Identifiers

PMID37810882
PMCPMC10556695

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.