Published in J Clin Endocrinol Metab on December 28, 2004
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
The nuclear envelope environment and its cancer connections. Nat Rev Cancer (2012) 1.68
SUMO Losing Balance: SUMO Proteases Disrupt SUMO Homeostasis to Facilitate Cancer Development and Progression. Genes Cancer (2010) 1.42
Sumoylation and human disease pathogenesis. Trends Biochem Sci (2009) 1.29
SENP1 induces prostatic intraepithelial neoplasia through multiple mechanisms. J Biol Chem (2010) 1.29
Repression of the SUMO-specific protease Senp1 induces p53-dependent premature senescence in normal human fibroblasts. Aging Cell (2008) 1.09
Relevance of mitochondrial genetics and metabolism in cancer development. Cold Spring Harb Perspect Biol (2013) 1.08
Small ubiquitin-related modifier (SUMO)-1 promotes glycolysis in hypoxia. J Biol Chem (2010) 0.95
A multi-gene approach to differentiate papillary thyroid carcinoma from benign lesions: gene selection using support vector machines with bootstrapping. Endocr Relat Cancer (2007) 0.95
Control of progesterone receptor transcriptional synergy by SUMOylation and deSUMOylation. BMC Mol Biol (2012) 0.94
Small cell ovarian carcinoma: genomic stability and responsiveness to therapeutics. Orphanet J Rare Dis (2013) 0.93
Expression of matrix metalloproteinases 2 and 9 in human gastric cancer and superficial gastritis. World J Gastroenterol (2010) 0.92
SENP1 deSUMOylates and regulates Pin1 protein activity and cellular function. Cancer Res (2013) 0.90
It takes two to tango: Ubiquitin and SUMO in the DNA damage response. Front Genet (2013) 0.90
Post-translational modifications of the progesterone receptors. J Steroid Biochem Mol Biol (2013) 0.88
Advances in the development of SUMO specific protease (SENP) inhibitors. Comput Struct Biotechnol J (2015) 0.88
Starting and stopping SUMOylation. What regulates the regulator? Chromosoma (2013) 0.88
Death-associated protein 3 is overexpressed in human thyroid oncocytic tumours. Br J Cancer (2009) 0.87
AF1q is a novel TCF7 co-factor which activates CD44 and promotes breast cancer metastasis. Oncotarget (2015) 0.83
A SUMOylation Motif in Aurora-A: Implications for Spindle Dynamics and Oncogenesis. Front Oncol (2011) 0.82
Transcriptional repression of estrogen receptor α signaling by SENP2 in breast cancer cells. Mol Endocrinol (2013) 0.82
Mitochondria and cancer. Virchows Arch (2009) 0.81
AF1q: a novel mediator of basal and 4-HPR-induced apoptosis in ovarian cancer cells. PLoS One (2012) 0.81
Overexpression of SENP3 in oral squamous cell carcinoma and its association with differentiation. Oncol Rep (2013) 0.79
ADM3, TFF3 and LGALS3 are discriminative molecular markers in fine-needle aspiration biopsies of benign and malignant thyroid tumours. Br J Cancer (2012) 0.77
RE1 silencing transcription factor (REST) negatively regulates ALL1-fused from chromosome 1q (AF1q) gene transcription. BMC Mol Biol (2015) 0.75
Involvement of AF1q/MLLT11 in the progression of ovarian cancer. Oncotarget (2017) 0.75
Genetic Polymorphism of SUMO-Specific Cysteine Proteases - SENP1 and SENP2 in Breast Cancer. Pathol Oncol Res (2016) 0.75
SUMO and the robustness of cancer. Nat Rev Cancer (2017) 0.75
Chaperone-mediated autophagy substrate proteins in cancer. Oncotarget (2017) 0.75
Genome-wide screening of indicator genes for assessing the potential carcinogenic risk of Nanjing city drinking water. Ecotoxicology (2011) 0.75
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab (2005) 4.07
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol (2005) 3.20
Influence of preoperative chemotherapy on the risk of major hepatectomy for colorectal liver metastases. Ann Surg (2006) 3.05
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet (2004) 2.98
Survival improvement in patients with medullary thyroid carcinoma who undergo pretargeted anti-carcinoembryonic-antigen radioimmunotherapy: a collaborative study with the French Endocrine Tumor Group. J Clin Oncol (2006) 2.79
Stage II colon cancer prognosis prediction by tumor gene expression profiling. J Clin Oncol (2006) 2.49
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab (2009) 2.22
Adenine nucleotide translocase 2 is a key mitochondrial protein in cancer metabolism. Biochim Biophys Acta (2010) 1.79
A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome. N Engl J Med (2003) 1.69
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
Methyl donor deficiency induces cardiomyopathy through altered methylation/acetylation of PGC-1α by PRMT1 and SIRT1. J Pathol (2011) 1.61
High-intensity focused ultrasound ablation of thyroid nodules: first human feasibility study. Thyroid (2011) 1.58
Heterozygous OPA1 mutations in Behr syndrome. Brain (2010) 1.57
Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment. Blood (2006) 1.56
High levels of antibodies against merkel cell polyomavirus identify a subset of patients with merkel cell carcinoma with better clinical outcome. J Clin Oncol (2011) 1.53
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab (2007) 1.53
Activation of the cAMP pathway by the TSH receptor involves switching of the ectodomain from a tethered inverse agonist to an agonist. Mol Endocrinol (2002) 1.51
Human thyroid tumor cell lines derived from different tumor types present a common dedifferentiated phenotype. Cancer Res (2007) 1.50
eOPA1: an online database for OPA1 mutations. Hum Mutat (2005) 1.43
A child with resistance to thyroid hormone without thyroid hormone receptor gene mutation: a 20-year follow-up. Thyroid (2008) 1.42
Generation of Merkel cell polyomavirus (MCV)-like particles and their application to detection of MCV antibodies. J Clin Microbiol (2010) 1.40
OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol (2009) 1.40
Mitochondrial dynamics and disease, OPA1. Biochim Biophys Acta (2006) 1.35
Incidental langerhans cell histiocytosis of thyroid: case report and review of the literature. Endocr Pathol (2002) 1.34
Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol (2008) 1.33
Ectopic adrenocorticotropic hormone-syndrome in medullary carcinoma of the thyroid: a retrospective analysis and review of the literature. Thyroid (2005) 1.32
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J Cell Physiol (2007) 1.30
Structure and chromosomal distribution of human mitochondrial pseudogenes. Genomics (2002) 1.27
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. Am J Gastroenterol (2008) 1.20
Estrogen-related receptor alpha and PGC-1-related coactivator constitute a novel complex mediating the biogenesis of functional mitochondria. FEBS J (2010) 1.20
OPA1 functions in mitochondria and dysfunctions in optic nerve. Int J Biochem Cell Biol (2009) 1.19
Transcriptional profiling reveals coordinated up-regulation of oxidative metabolism genes in thyroid oncocytic tumors. J Clin Endocrinol Metab (2004) 1.19
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol (2005) 1.18
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome Res (2010) 1.17
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol (2002) 1.14
PGC-1-related coactivator and targets are upregulated in thyroid oncocytoma. Biochem Biophys Res Commun (2003) 1.14
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. Ann Neurol (2007) 1.13
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. Exp Neurol (2010) 1.12
Dominant optic atrophy. Orphanet J Rare Dis (2012) 1.11
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur J Hum Genet (2007) 1.10
Clinical characteristics and outcome of acromegaly induced by ectopic secretion of growth hormone-releasing hormone (GHRH): a French nationwide series of 21 cases. J Clin Endocrinol Metab (2012) 1.10
Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators. J Clin Endocrinol Metab (2012) 1.06
Maternal smoking is associated with mitochondrial DNA depletion and respiratory chain complex III deficiency in placenta. Am J Physiol Endocrinol Metab (2005) 1.03
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. Brain (2012) 1.03
Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications. Endocr Relat Cancer (2009) 1.03
Exploration of global gene expression in human liver steatosis by high-density oligonucleotide microarray. Lab Invest (2006) 1.02
MADGene: retrieval and processing of gene identifier lists for the analysis of heterogeneous microarray datasets. Bioinformatics (2011) 1.01
Ectopic ACTH syndrome in children and adolescents. J Clin Endocrinol Metab (2011) 1.01
Estrogen-related receptor alpha modulates lactate dehydrogenase activity in thyroid tumors. PLoS One (2013) 1.00
Ischemic preconditioning modulates the expression of several genes, leading to the overproduction of IL-1Ra, iNOS, and Bcl-2 in a human model of liver ischemia-reperfusion. FASEB J (2005) 0.99
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat (2003) 0.99
Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells. J Biol Chem (2013) 0.98
Low serum testosterone assayed by liquid chromatography-tandem mass spectrometry. Comparison with five immunoassay techniques. Clin Chim Acta (2007) 0.97
Expression of T-cadherin in tumor cells influences invasive potential of human hepatocellular carcinoma. FASEB J (2006) 0.97
Efficacy of everolimus in patients with metastatic insulinoma and refractory hypoglycemia. Eur J Endocrinol (2013) 0.97
Mitochondrial DNA in the oocyte and the developing embryo. Curr Top Dev Biol (2007) 0.97
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One (2012) 0.96
Comparison of spheroids formed by rat glioma stem cells and neural stem cells reveals differences in glucose metabolism and promising therapeutic applications. J Biol Chem (2012) 0.96
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis. Eur J Endocrinol (2013) 0.94
Overexpression of the mitochondrial T3 receptor p43 induces a shift in skeletal muscle fiber types. PLoS One (2008) 0.94
Increase of mitochondrial DNA content and transcripts in early bovine embryogenesis associated with upregulation of mtTFA and NRF1 transcription factors. Reprod Biol Endocrinol (2005) 0.94
Concurrent induction of necrosis, apoptosis, and autophagy in ischemic preconditioned human livers formerly treated by chemotherapy. J Hepatol (2009) 0.94
High-intensity focused ultrasound for localized thyroid-tissue ablation: preliminary experimental animal study. Thyroid (2004) 0.94
Methyl donor deficiency impairs fatty acid oxidation through PGC-1α hypomethylation and decreased ER-α, ERR-α, and HNF-4α in the rat liver. J Hepatol (2012) 0.93
Apolipoprotein a-I is a potential mediator of remote ischemic preconditioning. PLoS One (2013) 0.93
Reversible optic neuropathy with OPA1 exon 5b mutation. Ann Neurol (2008) 0.93
Experimental determination of organelle targeting-peptide cleavage sites using transient expression of green fluorescent protein translational fusions. Anal Biochem (2012) 0.92
Immune response and mitochondrial metabolism are commonly deregulated in DMD and aging skeletal muscle. PLoS One (2011) 0.92
Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. J Neurol Neurosurg Psychiatry (2010) 0.91
Abnormal stimulation of the thyrotrophin receptor during gestation. Hum Reprod Update (2004) 0.91
Modulation of ligand selectivity associated with activation of the transmembrane region of the human follitropin receptor. Mol Endocrinol (2004) 0.91
Gene profiling reveals specific oncogenic mechanisms and signaling pathways in oncocytic and papillary thyroid carcinoma. Oncogene (2005) 0.91
Usefulness of repeated fine-needle cytology in the follow-up of non-operated thyroid nodules. Eur J Endocrinol (2007) 0.90
Overexpression of the mitochondrial T3 receptor induces skeletal muscle atrophy during aging. PLoS One (2009) 0.90
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol (2003) 0.90
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. FASEB J (2011) 0.89
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. Neuromuscul Disord (2007) 0.89
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics (2008) 0.89