ArticleBritish journal of cancer2006
Novel germline variants identified in the inner mitochondrial membrane transporter TIMM44 and their role in predisposition to oncocytic thyroid carcinomas.
Article in British journal of cancer, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 64 citations in OpenAlex.
- Mechanistic study of TIMM44 mediating gastric carcinogenesis via the Gαi1-PI3K-AKT-mTOR signaling pathway.Scientific reports · 2026Article
- A first-in-class TIMM44 blocker inhibits bladder cancer cell growth.Cell death & disease · 2024Article
- Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.Frontiers in oncology · 2024Review
- The mitochondrial protein TIMM44 is required for angiogenesis in vitro and in vivo.Cell death & disease · 2023Article
- Clinical relevance and outcome of familial papillary thyroid cancer: a single institution study of 626 familial cases.Frontiers in endocrinology · 2023Article
- Unexpected Widespread Bone Metastases from a BRAF K601N Mutated Follicular Thyroid Carcinoma within a Previously Resected Multinodular Goiter.Endocrine pathology · 2022Article
- ncRNAs-mediated high expression of TIMM8A correlates with poor prognosis and act as an oncogene in breast cancer.Cancer cell international · 2022Article
- Genetic susceptibility to hereditary non-medullary thyroid cancer.Hereditary cancer in clinical practice · 2022Review
- Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes.Endocrine pathology · 2022Review
- TIMM44 is a potential therapeutic target of human glioma.Theranostics · 2022Article
- Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.Frontiers in endocrinology · 2022Review
- Diabetic Nephropathy - a Review of Risk Factors, Progression, Mechanism, and Dietary Management.Biomolecules & therapeutics · 2021Review
- Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.Endocrine pathology · 2021Review
- Inherited Thyroid Tumors With Oncocytic Change.Frontiers in endocrinology · 2021Review
- Article
- Mitochondrial determinants of cancer health disparities.Seminars in cancer biology · 2017Review
- Adaptation of a Genetic Screen Reveals an Inhibitor for Mitochondrial Protein Import Component Tim44.The Journal of biological chemistry · 2017Article
- Integrative DNA methylome analysis of pan-cancer biomarkers in cancer discordant monozygotic twin-pairs.Clinical epigenetics · 2016Article
- Article
- Mitochondrial dynamics protein Drp1 is overexpressed in oncocytic thyroid tumors and regulates cancer cell migration.PloS one · 2015Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Non-Medullary Thyroid Carcinoma (fNMTC) represents 3-7% of all thyroid tumours and is associated with some of the highest familial risks among all cancers, with an inheritance pattern compatible with an autosomal dominant model with reduced penetrance. We previously mapped a predisposing locus, TCO (Thyroid tumour with Cell Oxyphilia) on chromosome 19p13.2, for a particular form of thyroid tumour characterised by cells with an abnormal proliferation of mitochondria (oxyphilic or oncocytic cells). In the present work, we report the systematic screening of 14 candidate genes mapping to the region of linkage in affected TCO members, that led us to identify two novel variants respectively in exon 9 and exon 13 of TIMM44, a mitochondrial inner membrane translocase for the import in the mitochondria of nuclear-encoded proteins. These variants were co-segregating with the TCO phenotype, were not present in a large group of controls and were predicted to negatively affect the protein (exon 9 change) or the transcript (exon 13 change). Functional analysis was performed in vitro for both changes and although no dramatic loss of function effects were identified for the mutant alleles, subtler effects might still be present that could alter Timm44 function and thus promote oncocytic tumour development. Thus we suggest that TIMM44 should be considered for further studies in independent samples of affected individuals with TCO.
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