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

A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations.

Oncotarget - 10 Jan 2017

Liu Hong-Zhou, Du Chun-Xian, Luo Jing, Qiu Xue-Ping, Li Zu-Hua, Lou Qi-Yong, Yin Zhan, Zheng Fang

Abstract excerpt

Two daughters in a Chinese consanguineous family were diagnosed as diffuse pulmonary arteriovenous malformations (PAVMs) and screened using whole exome sequencing (WES) and copy number variations (CNVs) chips. Though no mutation was found in the established causative genes of capillary malformation-AVMs (CM-AVMs) or PAVMs, Ser161Ile (hg19 NM_022493 c.482G>T) mutation in nuclear prelamin A recognition factor-like...

Read the complete abstract on PubMed

Topics

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

Share to Arteriovenous Malformations
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydrogenase

Share to Iron-Sulfur Proteins

Share to Neovascularization, Pathologic

Share to Pulmonary Artery

Share to Radiography, Thoracic

Share to RNA Stability

Source

Open in PubMed Open full text

Identifiers

PMID: 27835862
DOI: 10.18632/oncotarget.13156
PMCID: PMC5356835

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations.PMID 27835862Read ↗

The Mechanism of Vascular Endothelial Dysfunction Induced by Ferroptosis Mediated by NARFL KnockoutSemantic proximity Read ↗

Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary DysplasiaSemantic proximity Read ↗

Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiencySemantic proximity Read ↗

Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review.Semantic proximity Read ↗

SCARB1 downregulation in adrenal insufficiency with Allgrove SyndromeSemantic proximity Read ↗

Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.Semantic proximity Read ↗

Somatic NRAS mutation in patient with generalized lymphatic anomaly.Semantic proximity Read ↗

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.Semantic proximity Read ↗

Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.Semantic proximity Read ↗

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).Semantic proximity Read ↗

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.Semantic proximity Read ↗

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndromeSemantic proximity Read ↗

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