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Record W4406644320 · doi:10.1007/s12519-024-00865-4

Sex dimorphic associations of Prader–Willi imprinted gene expressions in umbilical cord with prenatal and postnatal growth in healthy infants

2025· article· en· W4406644320 on OpenAlexaff
Berta Mas‐Parés, Gemma Carreras‐Badosa, Ariadna Gómez‐Vilarrubla, Antonio De Arriba-Muñoz, Olivia Lafalla-Bernard, Anna Prats‐Puig, Francis de Zegher, Lourdes Ibáñez, Andrea M. Haqq, Judit Bassols, Abel López‐Bermejo

Bibliographic record

VenueWorld Journal of Pediatrics · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Syndromes and Imprinting
Canadian institutionsUniversity of Alberta
FundersCentro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas AsociadasInstituto de Salud Carlos IIIMinisterio de Ciencia e InnovaciónEuropean Regional Development FundGeneralitat ValencianaAsociación Española de Pediatría
KeywordsUmbilical cordSexual dimorphismMedicineBirth weightFetusGene expressionGenomic imprintingGeneEndocrinologyPhysiologyInternal medicinePregnancyBiologyGeneticsImmunologyDNA methylation

Abstract

fetched live from OpenAlex

BACKGROUND: The impact of Prader-Willi syndrome (PWS) domain gene expression on the growth of healthy children is not well understood. This study investigated associations between PWS domain gene expression in umbilical cord tissue and prenatal and postnatal growth, considering potential sex differences. METHODS: Relative gene expression of paternally expressed MAGEL2, NDN, and SNURF-SNRPN, and the small nucleolar RNAs SNORD116 and SNORD115 were determined by real-time quantitative polymerase chain reaction in umbilical cord tissue from 122 healthy newborns (59 girls and 63 boys). Gene expression levels were correlated with auxological measures at birth, infancy, and childhood (ages 2, 4, and 6 years). RESULTS: MAGEL2, NDN, SNORD116, and SNORD115 expression in the umbilical cord was negatively associated with birth weight, length, and placental weight (P < 0.001). Postnatally, these genes were positively associated with weight and length at 3 months (P < 0.001) and weight gain from birth to ages 1, 2, and 4 years (P < 0.01). Negative associations at birth were stronger in girls (P < 0.001), while positive associations during infancy and childhood were stronger in boys (P < 0.001). MAGEL2, SNORD116, and SNORD115 expression predicted early-postnatal growth, explaining the higher growth rate in boys compared to girls and accounting for sex differences up to 1.5 kg in weight and 3 cm in height during infancy. CONCLUSIONS: Paternally expressed PWS domain gene expression in the umbilical cord was negatively associated with prenatal growth and positively with early-postnatal growth in healthy infants. This gene expression may predict early human postnatal growth and promote the well-known sex dimorphism in growth. These results can also help in understanding the etiology of PWS, which remains unclear.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.002

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.009
GPT teacher head0.266
Teacher spread0.258 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2025
Admission routes1
Has abstractyes

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