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Long-read proteogenomics to connect disease-associated sQTLs to the protein isoform effectors of disease

American journal of human genetics, 2024-09, Vol.111 (9), p.1914-1931

2024

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Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia

Neuromuscular disorders : NMD, 2024-02, Vol.35, p.29-32

2024

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HOXA9 rs3801776 G>A polymorphism increases congenital talipes equinovarus risk in a Chinese population

The journal of gene medicine, 2019-10, Vol.21 (10), p.e3119-n/a

2019

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Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

Neuromuscular disorders : NMD, 2021-04, Vol.31 (4), p.359-366

2021

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Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Human mutation, 2014-07, Vol.35 (7), p.779-790

2014

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Abnormal TPM2 expression is involved in regulation of atherosclerosis progression via mediating RhoA signaling in vitro

Archives of medical science, 2024-01, Vol.20 (4), p.1197-1208

2024

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A Traditional Chinese Medicine, Maoto, Suppresses Hepatitis B Virus Production

Frontiers in cellular and infection microbiology, 2021-01, Vol.10, p.581345-581345

2021

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Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis

Frontiers in pediatrics, 2023-09, Vol.11

2023

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A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders

Clinical genetics, 2020-06, Vol.97 (6), p.908-914

2020

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Identification of TPM2 and CNN1 as Novel Prognostic Markers in Functionally Characterized Human Colon Cancer-Associated Stromal Cells

Cancers, 2022-04, Vol.14 (8), p.2024

2022

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TPM2 attenuates progression of prostate cancer by blocking PDLIM7-mediated nuclear translocation of YAP1

Cell & bioscience, 2023-02, Vol.13 (1), p.39-39, Article 39

2023

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Hypoxia-Induced TPM2 Methylation is Associated with Chemoresistance and Poor Prognosis in Breast Cancer

Cellular physiology and biochemistry, 2018-01, Vol.45 (2), p.692-705

2018

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Relevance Analysis of TPM2 and Clinicopathological Characteristics in Breast Cancer

International journal of general medicine, 2024-01, Vol.17, p.59-74

2024

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Association Between TPM1 Gene Polymorphisms and Idiopathic Congenital Talipes Equinovarus Risk in a Chinese Population

Genetic testing and molecular biomarkers, 2021-05, Vol.25 (5), p.355-360

2021

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A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I

International journal of clinical and experimental pathology, 2017-01, Vol.10 (11), p.11137-11142

2017

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Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

BMC medical genetics, 2018-10, Vol.19 (1), p.179-179, Article 179

2018

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Epigenetic silencing of TPM2 contributes to colorectal cancer progression upon RhoA activation

Tumor biology, 2016-09, Vol.37 (9), p.12477-12483

2016

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Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature

Neuromuscular disorders : NMD, 2014-12, Vol.24 (12), p.1103-1110

2014

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Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome

Genes, 2022-09, Vol.13 (10), p.1748

2022

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Smad4 SUMOylation is essential for memory formation through upregulation of the skeletal myopathy gene TPM2

BMC biology, 2017-11, Vol.15 (1), p.112-112, Article 112

2017

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An adult with a rare form of congenital fiber type disproportion

Muscle & nerve, 2018-01, Vol.57 (1), p.E97-E99

2018

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A novel heterozygous TPM2 gene mutation (c.456G>C; p.Lys152Asn) in an Iranian family affected by distal arthrogryposis type 1: a case report

Egyptian Journal of Medical Human Genetics, 2022-03, Vol.23 (1), p.49, Article 49

2022

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Expression of tropomyosin 2 gene isoforms in human breast cancer cell lines

Oncology reports, 2016-06, Vol.35 (6), p.3143-3150

2016

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Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.550-555

2013

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Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

Neuromuscular disorders : NMD, 2012-10, Vol.22, p.S137-S147

2012

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Long-read proteogenomics to connect disease-associated sQTLs to the protein isoform effectors of disease

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia

HOXA9 rs3801776 G>A polymorphism increases congenital talipes equinovarus risk in a Chinese population

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Abnormal TPM2 expression is involved in regulation of atherosclerosis progression via mediating RhoA signaling in vitro

A Traditional Chinese Medicine, Maoto, Suppresses Hepatitis B Virus Production

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders

Identification of TPM2 and CNN1 as Novel Prognostic Markers in Functionally Characterized Human Colon Cancer-Associated Stromal Cells

TPM2 attenuates progression of prostate cancer by blocking PDLIM7-mediated nuclear translocation of YAP1

Hypoxia-Induced TPM2 Methylation is Associated with Chemoresistance and Poor Prognosis in Breast Cancer

Relevance Analysis of TPM2 and Clinicopathological Characteristics in Breast Cancer

Association Between TPM1 Gene Polymorphisms and Idiopathic Congenital Talipes Equinovarus Risk in a Chinese Population

A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I

Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

Epigenetic silencing of TPM2 contributes to colorectal cancer progression upon RhoA activation

Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature

Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome

Smad4 SUMOylation is essential for memory formation through upregulation of the skeletal myopathy gene TPM2

An adult with a rare form of congenital fiber type disproportion

A novel heterozygous TPM2 gene mutation (c.456G>C; p.Lys152Asn) in an Iranian family affected by distal arthrogryposis type 1: a case report

Expression of tropomyosin 2 gene isoforms in human breast cancer cell lines

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

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