Evidence map›Paper›PMID 29590610›Full record

ArticleCell reports2018

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.

Elena G Bochukova, Katherine Lawler, Sophie Croizier, Julia M Keogh, Nisha Patel, Garth Strohbehn, Kitty K Lo, Jack Humphrey, Anita Hokken-Koelega, Layla Damen and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed, 1 pooled it
9.6field-weighted citation impact, top 2% of its field
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

65 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.

  1. A systematic review of the utility of biomarkers as aids in the early diagnosis and outcome prediction of bovine respiratory disease complex in feedlot cattle.Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2022
    Pooled it
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  15. GnRH and Cognition.Endocrinology · 2025
    Review
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  20. MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Developmental medicine and child neurology · 2025
    Review

5 more citing papers are in PubMed but not listed here.

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

14 authors at 9 institutions in 5 countries.

Elena G BochukovaUniversity of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK; The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Electronic address: e.bochukova@qmul.ac.uk.
Katherine LawlerUniversity of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Sophie CroizierThe Saban Research Institute, Developmental Neuroscience Program, and Diabetes and Obesity Program, Children's Hospital Los Angeles, Center for Endocrinology, Diabetes and Metabolism, University of Southern California, Los Angeles, CA 90027, USA; Inserm, Jean-Pierre Aubert Research Center, U1172, University Lille 2, Lille, 59045, France; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Julia M KeoghUniversity of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Nisha PatelThe Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
Garth StrohbehnUniversity of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Kitty K LoUniversity College London Genetics Institute (UGI), Department of Genetics, Environment and Evolution, University College London, Darwin Building, Gower Street, London, WC1E 6BT, UK.
Jack HumphreyUniversity College London Genetics Institute (UGI), Department of Genetics, Environment and Evolution, University College London, Darwin Building, Gower Street, London, WC1E 6BT, UK; Department of Neurodegenerative Disease, University College London Institute of Neurology, London, WC1N 3BG, UK.
Anita Hokken-KoelegaErasmus University Medical Center, Rotterdam, the Netherlands; Dutch Growth Research Foundation, Rotterdam, the Netherlands.
Layla DamenErasmus University Medical Center, Rotterdam, the Netherlands; Dutch Growth Research Foundation, Rotterdam, the Netherlands.
Stephany DonzeErasmus University Medical Center, Rotterdam, the Netherlands; Dutch Growth Research Foundation, Rotterdam, the Netherlands.
Sebastien G BouretThe Saban Research Institute, Developmental Neuroscience Program, and Diabetes and Obesity Program, Children's Hospital Los Angeles, Center for Endocrinology, Diabetes and Metabolism, University of Southern California, Los Angeles, CA 90027, USA; Inserm, Jean-Pierre Aubert Research Center, U1172, University Lille 2, Lille, 59045, France.
Vincent PlagnolUniversity College London Genetics Institute (UGI), Department of Genetics, Environment and Evolution, University College London, Darwin Building, Gower Street, London, WC1E 6BT, UK.
I Sadaf FarooqiUniversity of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK. Electronic address: isf20@cam.ac.uk.
University College London · GBAddenbrooke's Hospital · GBErasmus MC · NLWellcome Trust · GBChildren's Hospital of Los Angeles · USHersenstichting · NLQueen Mary University of London · GBUniversity of Cambridge · GBUniversity of Lausanne · CH

Funding

Leptin and the Nutritional Programming of Obesity and DiabetesR01DK084142 · NIDDK · CHILDREN'S HOSPITAL OF LOS ANGELES · PI LEVITT, PAT · 2010 to 2022
$4.3M
Hypothalamic miRNAs in the Pathogenesis of ObesityR01DK102780 · NIDDK · CHILDREN'S HOSPITAL OF LOS ANGELES · PI BOURET, SEBASTIEN G · 2015 to 2017
$1.2M
Medical Research Council 516700Medical Research Council MC_UU_12012/5NIDDK NIH HHS R01 DK084142NIDDK NIH HHS R01 DK102780Wellcome Trust 098497/Z/12/Z
6 · The paper itself

Abstract

Transcriptional analysis of brain tissue from people with molecularly defined causes of obesity may highlight disease mechanisms and therapeutic targets. We performed RNA sequencing of hypothalamus from individuals with Prader-Willi syndrome (PWS), a genetic obesity syndrome characterized by severe hyperphagia. We found that upregulated genes overlap with the transcriptome of mouse Agrp neurons that signal hunger, while downregulated genes overlap with the expression profile of Pomc neurons activated by feeding. Downregulated genes are expressed mainly in neuronal cells and contribute to neurogenesis, neurotransmitter release, and synaptic plasticity, while upregulated, predominantly microglial genes are involved in inflammatory responses. This transcriptional signature may be mediated by reduced brain-derived neurotrophic factor expression. Additionally, we implicate disruption of alternative splicing as a potential molecular mechanism underlying neuronal dysfunction in PWS. Transcriptomic analysis of the human hypothalamus may identify neural mechanisms involved in energy homeostasis and potential therapeutic targets for weight loss.

Indexed as

AnimalsBrain-Derived Neurotrophic FactorFastingHumansHypothalamusMiceObesityPrader-Willi SyndromeTranscriptomeBDNF protein, humanBdnf protein, mouseBrain-Derived Neurotrophic FactorAgrpBDNFhypothalamusobesityPrader-Willi syndromeSNORD116

Identifiers

PMID29590610
PMCPMC5896230
OpenAlexW2794512822

What OpenQuestion holds

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LicenceCC BY
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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.