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hpa002868

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Nelly Burnichon et al.
European journal of endocrinology, 164(1), 141-145 (2010-10-07)
In this report, we describe a new patient with unexplained familial bilateral pheochromocytoma. Following the recent description of TMEM127 as a new pheochromocytoma susceptibility gene, the aim of this study was to test the hypothesis of a causative TMEM127 gene
Arjen H G Cleven et al.
Clinical sarcoma research, 7, 8-8 (2017-05-10)
Mutations in isocitrate dehydrogenase (IDH)1 or -2 are found in ~50% of conventional central chondrosarcomas and in up to 87% of their assumed benign precursors enchondromas. The mutant enzyme acquires the activity to convert α-ketoglutarate into the oncometabolite d-2-hydroxyglutarate (d-2-HG), which
B E Baysal et al.
Journal of molecular medicine (Berlin, Germany), 79(9), 495-503 (2001-11-03)
This review presents our current knowledge on the genetic and phenotypic aspects of mitochondrial complex II gene defects. The mutations of the complex II subunits cause two strikingly different group of disorders, revealing a phenotypic dichotomy. Genetic disorders of the
Francien H van Nederveen et al.
The Lancet. Oncology, 10(8), 764-771 (2009-07-07)
Phaeochromocytomas and paragangliomas are neuro-endocrine tumours that occur sporadically and in several hereditary tumour syndromes, including the phaeochromocytoma-paraganglioma syndrome. This syndrome is caused by germline mutations in succinate dehydrogenase B (SDHB), C (SDHC), or D (SDHD) genes. Clinically, the phaeochromocytoma-paraganglioma
Charlotte Lussey-Lepoutre et al.
Clinical cancer research : an official journal of the American Association for Cancer Research, 22(5), 1120-1129 (2015-10-23)
Germline mutations in genes encoding mitochondrial succinate dehydrogenase (SDH) are found in patients with paragangliomas, pheochromocytomas, gastrointestinal stromal tumors, and renal cancers. SDH inactivation leads to a massive accumulation of succinate, acting as an oncometabolite and which levels, assessed on
Florian Haller et al.
Endocrine-related cancer, 21(4), 567-577 (2014-05-27)
Carney triad (CT) is a rare condition with synchronous or metachronous occurrence of gastrointestinal stromal tumors (GISTs), paragangliomas (PGLs), and pulmonary chondromas in a patient. In contrast to Carney-Stratakis syndrome (CSS) and familial PGL syndromes, no germline or somatic mutations
Grégory Mougel et al.
European journal of endocrinology, 183(4), 369-379 (2020-07-06)
The '3PAs' syndrome, associating pituitary adenoma (PA) and pheochromocytoma/paraganglioma (PPGL), is sometimes associated with mutations in PPGL-predisposing genes, such as SDHx or MAX. In '3PAs' syndrome, PAs can occur before PPGL, suggesting a new gateway into SDHx/MAX-related diseases. To determine
K Kita et al.
Biochemical and biophysical research communications, 166(1), 101-108 (1990-01-15)
Complex II (succinate-ubiquinone oxidoreductase) is an important enzyme complex of both the tricarboxylic acid cycle and of the aerobic respiratory chains of mitochondria in eukaryotic cell and prokaryotic organisms. In this study, the amino acid sequence of iron sulfur-subunit in
S Marchiani et al.
International journal of andrology, 34(6 Pt 1), 581-593 (2010-11-03)
Sumoylation is a post-translational modification involved in the regulation of several cell functions. Recent studies suggest its involvement in spermatogenesis, but occurrence and function of SUMO (small ubiquitin-like modifier) in mature spermatozoa remain unknown. We report the occurrence of several
Cécile Nozières et al.
European journal of endocrinology, 166(6), 1107-1111 (2012-03-21)
Ten percent of paragangliomas are malignant and one-third occurs in a genetic background. We report a case of succinate dehydrogenase subunit B (SDHB)-related malignant paraganglioma with dramatic response to temozolomide and capecitabine regimen (decrease in tumor size of 70% with
Alexandre Buffet et al.
The Journal of clinical endocrinology and metabolism, 106(2), 459-471 (2020-11-13)
Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors in which altered central metabolism appears to be a major driver of tumorigenesis, and many PPGL genes encode proteins involved in the tricarboxylic acid (TCA) cycle. While about 40% of PPGL cases carry
Nidia Y Cerecer-Gil et al.
Clinical cancer research : an official journal of the American Association for Cancer Research, 16(16), 4148-4154 (2010-07-02)
Paragangliomas of the head and neck are neuroendocrine tumors and are associated with germ line mutations of the tricarboxylic acid cycle-related genes SDHB, SDHC, SDHD, and SDHAF2. Hypoxia is important in most solid tumors, and was directly implicated in tumorigenesis
A novel succinate dehydrogenase type B mutation in an Iranian family. Its genetic and clinical evaluation
Ghazi AA, et al.
Hormones (Athens, Greece), 13(4), 568-573 (2014)
Paraskevi Xekouki et al.
The Journal of clinical endocrinology and metabolism, 97(3), E357-E366 (2011-12-16)
Mutations in the subunits B, C, and D of succinate dehydrogenase (SDH) mitochondrial complex II have been associated with the development of paragangliomas (PGL), gastrointestinal stromal tumors, papillary thyroid and renal carcinoma (SDHB), and testicular seminoma (SDHD). Our aim was
Succinate dehydrogenase B (SDHB) immunohistochemistry for the evaluation of muscle biopsies
Punsoni M, et al.
Applied Immunohistochemistry & Molecular Morphology, 25(9), 645-650 (2017)
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E Rapizzi et al.
Endocrine-related cancer, 19(3), 261-269 (2012-02-11)
To date, the consequences of succinate dehydrogenase (SDH) impairment on overall mitochondrial functions are still obscure. In this study, we evaluated SDH activity and expression and mitochondrial homeostasis in 57 tissue samples of pheochromocytoma (PHEO)/paraganglioma (PGL) obtained from patients genotyped
Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation.
Santi, et al.
Anticancer Research, 37, 805-812 (2017)
Alessio Giubellino et al.
The American journal of surgical pathology, 39(11), 1488-1492 (2015-10-13)
Urinary bladder paraganglioma (paraganglioma) is a rare tumor of chromaffin cells of the sympathetic system of the urinary bladder wall. We studied 14 cases of this entity and investigated the usefulness of SDHB protein staining by immunohistochemistry (IHC) as a
Clarissa A Cassol et al.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 27(8), 1050-1062 (2014-01-07)
Pheochromocytomas and paragangliomas are neuroendocrine tumors shown to be responsive to multitargeted tyrosine kinase inhibitor (TKI) treatment. Despite growing knowledge regarding their genetic basis, the ability to predict behavior in these tumors remains challenging. There is also limited knowledge of
Xiao-Hui Zou et al.
Virology, 468-470, 388-396 (2014-09-23)
The human adenovirus (HAdV) early protein E1B55K interacts with E4orf6 to form an E3 ubiquitin ligase complex, which plays key roles in virus replication. To illustrate the reason for the fastidiousness of HAdV-41 in 293 cells, interaction between heterotypic E1B55K
Nelly Burnichon et al.
Human molecular genetics, 19(15), 3011-3020 (2010-05-21)
Mitochondrial succinate-coenzyme Q reductase (complex II) consists of four subunits, SDHA, SDHB, SDHC and SDHD. Heterozygous germline mutations in SDHB, SDHC, SDHD and SDHAF2 [encoding for succinate dehydrogenase (SDH) complex assembly factor 2] cause hereditary paragangliomas and pheochromocytomas. Surprisingly, no
Thomas G Papathomas et al.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 28(6), 807-821 (2015-02-28)
Despite the established role of SDHB/SDHA immunohistochemistry as a valuable tool to identify patients at risk for familial succinate dehydrogenase-related pheochromocytoma/paraganglioma syndromes, the reproducibility of the assessment methods has not as yet been determined. The aim of this study was
Laura Remacha et al.
Clinical cancer research : an official journal of the American Association for Cancer Research, 23(20), 6315-6324 (2017-07-20)
Purpose: Mutations in Krebs cycle genes are frequently found in patients with pheochromocytomas/paragangliomas. Disruption of SDH, FH or MDH2 enzymatic activities lead to accumulation of specific metabolites, which give rise to epigenetic changes in the genome that cause a characteristic
Jingnan Sun et al.
Nucleic acids research, 42(15), 9588-9601 (2014-08-06)
Dysregulation of the insulin-like growth factor type I receptor (IGF1R) has been implicated in the progression and therapeutic resistance of malignancies. In acute myeloid leukemia (AML) cells, IGF1R is one of the most abundantly phosphorylated receptor tyrosine kinases, promoting cell
Succinate dehydrogenase in Plasmodium falciparum mitochondria: molecular characterization of the SDHA and SDHB genes for the catalytic subunits, the flavoprotein (Fp) and iron-sulfur (Ip) subunits
Takeo S, et al.
Molecular and Biochemical Parasitology, 107(2), 191-205 (2000)
Laurène Ben Aim et al.
Journal of medical genetics, 56(8), 513-520 (2019-03-17)
Knowing the genetic status of patients affected by paragangliomas and pheochromocytomas (PPGL) is important for the guidance of their management and their relatives. Our objective was to improve the diagnostic performances of PPGL genetic testing by next-generation sequencing (NGS). We
Esther Korpershoek et al.
The Journal of clinical endocrinology and metabolism, 96(9), E1472-E1476 (2011-07-15)
Pheochromocytoma-paraganglioma syndrome is caused by mutations in SDHB, SDHC, and SDHD, encoding subunits of succinate dehydrogenase (SDH), and in SDHAF2, required for flavination of SDHA. A recent report described a patient with an abdominal paraganglioma, immunohistochemically negative for SDHA, and
A Novel SDHB IVS2-2A> C Mutation Is Responsible for Hereditary Pheochromocytoma/Paraganglioma Syndrome
Yamanaka M, et al.
The Tohoku Journal of Experimental Medicine, 245(2), 99-105 (2018)
Nelly Burnichon et al.
Human molecular genetics, 20(20), 3974-3985 (2011-07-26)
Pheochromocytomas and paragangliomas are neuroendocrine tumors that occur in the context of inherited cancer syndromes in ∼30% of cases and are linked to germline mutations in the VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2 and TMEM127 genes. Although genome-wide
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