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nemaline myopathy
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Thyroid cancer
Homo sapiens (human)
one gene
Clinical Trials
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External
Molecular and Genetic Studies of Congenital Myopathies
Cancer Gene Census
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TPM3
Somatic tumors
papillary thyroid, ALCL, NSCLC, Spitzoid tumour
Tumor types germline
Cancer Syndrom
Translocation partner
NTRK1, ALK, ROS1
Name
tropomyosin 3
Chromosome banding
1q22-q23
Cancer molecular gen.
Dom
Mutation type
T
Other syndrome disease
PubMed Links
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TPM3
Localization of the TRK proto-oncogene to human chromosome bands 1q23-1q24
ACTA1
Recruitment of the androgen receptor via serum response factor facilitates expression of a myogenic gene.
TPM2
Sarcomeric protein isoform transitions in cardiac muscle: a journey to heart failure
Beta-tropomyosin overexpression induces severe cardiac abnormalities
Protooncogene induction and reprogramming of cardiac gene expression produced by pressure overload
Functional analysis of human cardiac troponin by the in vitro motility assay: comparison of adult, foetal and failing hearts
New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations
Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)
TNNT1
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
Adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish
CFL2
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
Definition
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