ArticleNature communications2021
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
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Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16citing papers in PubMed
2.3field-weighted citation impact, top 11% of its field
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Who cites it
16 citing papers in PubMed, 40 citations in OpenAlex.
- Apc-deficient pituitary stem cells drive adamantinomatous craniopharyngioma through senescence-associated inflammation.EMBO molecular medicine · 2026Article
- Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling.The Journal of clinical endocrinology and metabolism · 2026Article
- Deficiency of anterior pituitary hormones in Noonan syndrome and its impact on response to growth hormone therapy.World journal of clinical pediatrics · 2025Article
- Hypopituitarism: genetic, developmental, and acquired etiologies with a focus on the emerging concept of autoimmune hypophysitis.Endocrine journal · 2025Review
- Biological pathways leading to septo-optic dysplasia: a review.Orphanet journal of rare diseases · 2025Review
- Pituitary stem cells: past, present and future perspectives.Nature reviews. Endocrinology · 2024Review
- Review
- Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.Human molecular genetics · 2023Article
- Phosphorylation of β-catenin at Serine552 correlates with invasion and recurrence of non-functioning pituitary neuroendocrine tumours.Acta neuropathologica communications · 2022Article
- Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status.Endocrine connections · 2022Article
- Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome.Journal of clinical medicine · 2022Review
- How can same-gene mutations promote both cancer and developmental disorders?Science advances · 2022Article
- Pituitary tumors and the risk of other malignancies: is the relationship coincidental or causal?Endocrine oncology (Bristol, England) · 2022Review
- Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.Frontiers in endocrinology · 2022Review
- Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.Frontiers in endocrinology · 2022Review
- Readdressing Short Stature in India: The "Long and the Short" of it.Indian journal of endocrinology and metabolismArticle
Corrections and comments
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Authors and funding
25 authors at 9 institutions in 4 countries.
Angelica Gualtieri *Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Nikolina Kyprianou *Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Louise C Gregory *Genetics and Genomic Medicine Research and Teaching Department, UCL, Great Ormond Street Institute of Child Health, London, UK.ORCID http://orcid.org/0000-0001-7463-5365
Maria Lillina Vignola *Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
James G NicholsonCentre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-4585-6924
Rachael TanCentre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Shin-Ichi InoueDepartment of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Valeria ScagliottiCentre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Pedro CasadoIntegrative Cell Signalling and Proteomics, Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-4207-9349
James BlackburnCentre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Fernando Abollo-JimenezCentre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Eugenia MarinelliCentre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Rachael E J BesserGenetics and Genomic Medicine Research and Teaching Department, UCL, Great Ormond Street Institute of Child Health, London, UK.ORCID http://orcid.org/0000-0002-4645-6324
Wolfgang HöglerDepartment of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.ORCID http://orcid.org/0000-0003-4328-6304
I Karen TempleFaculty of Medicine, University of Southampton, Southampton, UK.
Justin H DaviesChild Health Directorate, University of Southampton, Southampton, UK.
Andrey GagunashviliNIHR Biomedical Research Centre, Great Ormond Street Hospital, Children NHS Foundation Trust and UCL, London, UK.
Iain C A F RobinsonThe Francis Crick Institute, London, UK.
Sally A CamperDepartment of Human Genetics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0001-8556-3379
Shannon W DavisDepartment of Biological Sciences, University of South Carolina, Columbia, SC, USA.ORCID http://orcid.org/0000-0001-7354-5691
Pedro R CutillasIntegrative Cell Signalling and Proteomics, Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-3426-2274
Evelien F GeversCentre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Yoko AokiDepartment of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Mehul T Dattani *Genetics and Genomic Medicine Research and Teaching Department, UCL, Great Ormond Street Institute of Child Health, London, UK.ORCID http://orcid.org/0000-0002-0365-5809
Carles Gaston-Massuet *Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. c.gaston-massuet@qmul.ac.uk.ORCID http://orcid.org/0000-0002-6793-3118
Queen Mary University of London · GBGreat Ormond Street Hospital · GBTohoku University · JPUniversity of Southampton · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBJohannes Kepler University of Linz · ATThe Francis Crick Institute · GBUniversity of Michigan · USUniversity of South Carolina · US
Funding
Hypopituitarism: role of PROP1 and retinoic acid signaling in regulation of pituitary stem cell differentiationR01HD097096 · NICHD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI CAMPER, SALLY A. · 2019 to 2023
$2.2MBiotechnology and Biological Sciences Research Council BB/M006174/1Cancer Research UK C15966/A24375Department of HealthMedical Research Council MR/P018459Medical Research Council MR/P018459/1Medical Research Council MR/R006237/1Medical Research Council MR/S037896Medical Research Council MR/S037896/1MRF_ MRF-099-0002-RG-UCLICMRF_ MRF-099-0003-RG-DATT-C0921NICHD NIH HHS R01 HD097096Wellcome Trust
Abstract
Germline mutations in BRAF and other components of the MAPK pathway are associated with the congenital syndromes collectively known as RASopathies. Here, we report the association of Septo-Optic Dysplasia (SOD) including hypopituitarism and Cardio-Facio-Cutaneous (CFC) syndrome in patients harbouring mutations in BRAF. Phosphoproteomic analyses demonstrate that these genetic variants are gain-of-function mutations leading to activation of the MAPK pathway. Activation of the MAPK pathway by conditional expression of the Braf
Indexed as
Gain of Function MutationAnimalsCell Cycle ProteinsCells, CulturedChildChild, PreschoolCorticotrophsEctodermal DysplasiaExome SequencingFaciesFailure to ThriveHeart Defects, CongenitalHEK293 CellsHumansHypopituitarismHypothalamusCell Cycle ProteinsProto-Oncogene Proteins B-raf
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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.