Gain-of-function mutations in DNMT3A in patients with paraganglioma.

doi:10.1038/s41436-018-0003-y

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Gain-of-function mutations in DNMT3A in patients with paraganglioma.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018

Remacha Laura, Currás-Freixes Maria, Torres-Ruiz Raúl, Schiavi Francesca, Torres-Pérez Rafael, Calsina Bruna, Letón Rocío, Comino-Méndez Iñaki, Roldán-Romero Juan M, Montero-Conde Cristina, Santos María, Pérez Lucía Inglada, Pita Guillermo, Alonso María R, Honrado Emiliano, Pedrinaci Susana, Crespo-Facorro Benedicto, Percesepe Antonio, Falcioni Maurizio, Rodríguez-Perales Sandra, Korpershoek Esther, Ramón-Maiques Santiago, Opocher Giuseppe, Rodríguez-Antona Cristina, Robledo Mercedes, Cascón Alberto

Abstract excerpt

PURPOSE: The high percentage of patients carrying germline mutations makes pheochromocytomas/paragangliomas the most heritable of all tumors. However, there are still cases unexplained by mutations in the known genes. We aimed to identify the genetic cause of disease in patients strongly suspected of having hereditary tumors. METHODS: Whole-exome sequencing was applied to the germlines of a parent-proband trio....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Gland Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CRISPR-Cas Systems

Share to DNA (Cytosine-5-)-Methyltransferases

Share to DNA Methyltransferase 3A

Share to Exome Sequencing

Share to Gain of Function Mutation

Share to Paraganglioma

Share to Pheochromocytoma

Source

Open in PubMed

Identifiers

PMID: 29740169
DOI: 10.1038/s41436-018-0003-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Gain-of-function mutations in DNMT3A in patients with paraganglioma.PMID 29740169Read ↗

Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid CarcinomaSemantic proximity Read ↗

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.Semantic proximity Read ↗

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.Semantic proximity Read ↗

DNMT3b polymorphism and hereditary nonpolyposis colorectal cancer age of onset.Semantic proximity Read ↗

Germline Abnormalities in DNA Methylation and Histone Modification and Associated Cancer Risk.Semantic proximity Read ↗

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.Semantic proximity Read ↗

Pheochromocytoma and paraganglioma: molecular testing and personalized medicine.Semantic proximity Read ↗

Review of sequencing platforms and their applications in phaeochromocytoma and paragangliomas.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.