Discover Community Create You

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

Article

Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect.

International journal of cardiology - 1 Mar 2021

Yamamoto Hidenori, Hayano Satoshi, Okuno Yusuke, Onoda Atsuto, Kato Kohji, Nagai Noriko, Fukasawa Yoshie, Saitoh Shinji, Takahashi Yoshiyuki, Kato Taichi

Abstract excerpt

BACKGROUND: A gain-of-function mutation in germline ABL1 causes a syndrome including congenital heart defects. However, the molecular mechanisms of this syndrome remain unknown. In this study, we found a novel ABL1 mutation in a Japanese family with ventricular septal defect, finger contracture, skin abnormalities and failure to thrive, and the molecular mechanisms of these phenotypes were investigated. METHODS...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Germ Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Septal Defects, Ventricular

Share to Mutation

Share to Proteome

Share to Proto-Oncogene Proteins c-abl

Source

Identifiers

PMID: 33075386
DOI: 10.1016/j.ijcard.2020.10.032

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect.PMID 33075386Read ↗

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformationsSemantic proximity Read ↗

Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.Semantic proximity Read ↗

Identification and functional analysis of a new phosphorylation site (Y398) in the SH3 domain of Abi-1.Semantic proximity Read ↗

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.Semantic proximity Read ↗

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.Semantic proximity Read ↗

Abelson kinase's intrinsically disordered region plays essential roles in protein function and protein stability.Semantic proximity Read ↗

Integrated in silico MS-based phosphoproteomics and network enrichment analysis of RASopathy proteins.Semantic proximity Read ↗

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.Semantic proximity Read ↗

Phosphotyrosine profiling identifies the KG-1 cell line as a model for the study of FGFR1 fusions in acute myeloid leukemiaSemantic proximity Read ↗

Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature.Semantic proximity Read ↗

Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB PhosphoserinesSemantic proximity Read ↗

Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.Semantic proximity Read ↗

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