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

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

PloS one - 1 Jan 2019

Liu Jie, Zhao Weiwei, Ou Xiaohua, Zhao Zhen, Hu Changming, Sun Mingming, Liu Feifei, Deng Junhao, Gu Weili, An Jiaying, Zhang Qingling, Zhang Xiaoxian, Xie Jiaxing, Li Shiyue, Chen Rongchang, Yu Shihui, Zhong Nanshan

Abstract excerpt

The aim of our study was to elucidate the landscapes of genetic alterations of TSC1 and TSC2 as well as other possible non-TSC1/2 in Lymphangioleiomyomatosis (LAM) patients. Sixty-one Chinese LAM patients' clinical information was collected. Tumor biopsies and matched leukocytes from these patients were retrospectively analyzed by next generation sequencing (NGS), chromosomal microarray analysis (CMA), and...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Polymorphism, Single Nucleotide

Share to Renal cell carcinoma treatment

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Share to Tuberous Sclerosis Complex Research

Source

Open in PubMed Open full text

Identifiers

PMID: 31856217
DOI: 10.1371/journal.pone.0226400
PMCID: PMC6922431

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).PMID 31856217Read ↗

Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.Semantic proximity Read ↗

Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.Semantic proximity Read ↗

Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.Semantic proximity Read ↗

Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.Semantic proximity Read ↗

A Second Hit Somatic (P.R905W) and a Novel Germline Intron-Mutation of TSC2 Gene is Found in Intestinal Lymphangioleiomyomatosis: A Case Report with Literature ReviewSemantic proximity Read ↗

A case of tuberous sclerosis complex associated lymphangioleiomyomatosis and review of literaturesSemantic proximity Read ↗

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.Semantic proximity Read ↗

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.Semantic proximity Read ↗

Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.Semantic proximity Read ↗

Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis.Semantic proximity Read ↗

A Case of Tuberous Sclerosis Complex with Lymphangioleiomyomatosis and Renal Cell CarcinomaSemantic proximity Read ↗

The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis.Semantic proximity Read ↗

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