Cargando…

OR29-5 New Insights into the Genotype/Phenotype Profile of TMEM127 Germline Mutations

Abstract: Pheochromocytomas/paragangliomas (PHEOs/PGLs) are frequently heritable catecholamine-secreting, neuroendocrine tumors. More than 15 distinct genes cause PHEO/PGL predisposition, including the TMEM127 tumor suppressor gene, a transmembrane protein of unknown function. The clinical spectrum,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Armaiz-Pena, Gustavo, Flores, Shahida, Cheng, Zi-Ming, Deng, Yilun, Koops, Maureen, Bruder, Jan, Dahia, Patricia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Adrenal
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555071/ http://dx.doi.org/10.1210/js.2019-OR29-5

Ejemplares similares

SUN-138 Functional Characterization of Tumor-Associated Germline TMEM127 Variants Reveals Novel Insights into Membrane Topology and Protein Trafficking
por: Flores, Shahida, et al.
Publicado: (2020)

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
por: Qin, Yuejuan, et al.
Publicado: (2010)

Large Invasive Adrenal Cortical Carcinoma in a Patient With Neurofibromatosis Type I
por: Sandoval, Brenda G, et al.
Publicado: (2021)

Insights into Mechanisms of Pheochromocytomas and Paragangliomas Driven by Known or New Genetic Drivers
por: Flores, Shahida K., et al.
Publicado: (2021)

Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma
por: Saitoh, Kohei, et al.
Publicado: (2017)

The tumor suppressor TMEM127 regulates insulin sensitivity in a tissue-specific manner
por: Srikantan, Subramanya, et al.
Publicado: (2019)

Novel Germline SUCLG2 Mutations in Patients With Pheochromocytoma and Paraganglioma
por: Vanova, Katerina Hadrava, et al.
Publicado: (2021)

CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype
por: Zhou, Junhua, et al.
Publicado: (2021)

RF21 | PSUN07 Germline Genetic Testing in a Cohort of Adults with Adrenocortical Carcinoma : Insights From a Clinical Care Setting
por: Mourot, Aurélie, et al.
Publicado: (2022)

OR29-1 Best of the Journal of the Endocrine Society: The Lateralizing Asymmetry of Adrenal Adenomas
por: Hao, Meng, et al.
Publicado: (2019)

MON-202 Germline SDHB Exon 1 Deletion Is Associated with Absence of (131)I-metaiodobenzylguanidine (MIBG) Uptake in Malignant Paragangliomas
por: Petenuci, Janaina, et al.
Publicado: (2020)

TMEM127 suppresses tumor development by promoting RET ubiquitination, positioning, and degradation
por: Guo, Qianjin, et al.
Publicado: (2023)

OR29-4 Pregnancy Outcomes in Women with Pheochromocytoma and Paraganglioma: An International Multi-Center Study
por: Bancos, Irina, et al.
Publicado: (2019)

RF09 | PSUN29 Evidence for a Founder Effect of SDHB Exon 1 Complete Deletion in Brazilian Patients with Paraganglioma
por: Fagundes, Gustavo F, et al.
Publicado: (2022)

OR29-6 Brown Adipose Tissue Activation in SDHx-Related Pheochromocytoma and Paraganglioma: An Ominous Sign?
por: Abdul Sater, Zahraa, et al.
Publicado: (2019)

Simultaneous Occurrence of Germline Pathogenic Allele Variants of TMEM127 and TP53 in a Brazilian Family With Li-Fraumeni Syndrome
por: Lima, Jose Viana, et al.
Publicado: (2021)

SAT-183 Right Adrenal Mass: An Unusual Presentation
por: Gondin-Hernandez, Lyan, et al.
Publicado: (2020)

OR29-3 Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical Carcinoma
por: Mohan, Dipika, et al.
Publicado: (2019)

SAT-155 High Prevalence Alterations on DNA Mismatch Repair Genes Related to Lynch Syndrome in Pediatric Patients with Adrenocortical Tumor Carried of the Germline Mutation on TP53
por: Brondani, Vânia Balderrama, et al.
Publicado: (2020)

MON-209 Identification of a New Heterozygous Germline ARMC5 Deletion in a Familial Case of Primary Bilateral Macronodular Adrenal Hyperplasia Co-Secreting Cortisol and Aldosterone
por: Salle, Stefanie Parisien-La, et al.
Publicado: (2020)

OR29-2 Mild Autonomous Cortisol Excess (MACE) in Adrenal Incidentalomas - Metabolic Risk Profile and Urinary Steroid Metabolome Analysis in 1208 Prospectively Recruited Patients
por: Prete, Alessandro, et al.
Publicado: (2019)

MON-212 Genetic Spectrum Of A Canadian Cohort Of Sporadic Pheochromocytomas And Paragangliomas: Higher Prevalence Of Germline Mutations In PGL And NGS Assay With A Multigene Panel Increases The Mutation Rate
por: Salle, Stefanie Parisien-La, et al.
Publicado: (2020)

OR29-2 Comprehensive Steroid and Global Metabolome Analysis by Mass Spectrometry and Machine Learning to Understand Metabolic Risk in Benign Adrenal Tumours With Mild Autonomous Cortisol Secretion
por: Prete, Alessandro
Publicado: (2022)

Pheochromocytomatosis associated with a novel TMEM127 mutation
por: Yu, Run, et al.
Publicado: (2017)

SUN-373 Small Adrenal Incidentaloma Stable in Size Becoming a Stage IV Adrenocortical Carcinoma 10 Years Later in a Young Patient Carrying a Germline APC Variant of Uncertain Significance (VUS)
por: Boily, Pascale, et al.
Publicado: (2019)

Intracellular Cholesterol Metabolism in Aldosterone-Producing Adenoma.~A Possible Association With Cellular Morphometry and Genotype~
por: Harashima, Shogo, et al.
Publicado: (2021)

Loss of Tumour Suppressor TMEM127 Drives RET-mediated Transformation Through Disrupted Membrane Dynamics
por: Walker, Timothy J., et al.
Publicado: (2023)

SAT-222 Aggressive Phenotype Pheochromocytoma Associated with NF-1 and BRCA Mutation
por: Chaidarun, Tanyawan, et al.
Publicado: (2020)

SUN-198 Metastatic Progression of Adrenocortical Carcinoma: Phenotypic Transformation to ACTH-Independent Cushing’s Syndrome
por: Ocampo, Javier, et al.
Publicado: (2020)

Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
por: Fernández-Pombo, Antía, et al.
Publicado: (2019)

SAT-214 Steroid Induced Pheochromocytoma Crisis
por: Eagan, Danielle, et al.
Publicado: (2020)

MON-369 Treatment of Nonclassic 11-Hydroxylase Deficiency with "Hair, Skin, and Nails," an Over-the-Counter, Insulin Sensitizing Vitamin/Mineral Supplement
por: Fox, Nicholette, et al.
Publicado: (2019)

Identification of a TMEM127 variant in a patient with paraganglioma and acromegaly
por: Stütz, Beryl, et al.
Publicado: (2020)

“Relieving the Pressure” With Unilateral Adrenalectomy in a Case of Chronic Resistant Hypertension From Primary Aldosteronism
por: Brooks, Danielle, et al.
Publicado: (2021)

ODP053 Serum Free Cortisol and Free Cortisol-to-Cortisone Ratio Increase After 10 Days of Overfeeding and After 10 Days of Fasting
por: Colling, Caitlin, et al.
Publicado: (2022)

Adrenal Cushing’s in Pregnancy, Managed with Metyrapone to Optimize for Adrenalectomy at 27 Weeks Gestation
por: Shah, Leena, et al.
Publicado: (2021)

Insights From Targeted Genetic Analysis of 364 Adrenocortical Carcinomas
por: Pozdeyev, Nikita, et al.
Publicado: (2021)

A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With anSDHC Germline Mutation
por: Ong, Raquel Kristin S, et al.
Publicado: (2018)

OR03-03 New Insights into the Functional Human Adrenal Cortex Zonation
por: Camponova, Paméla, et al.
Publicado: (2020)

MON-357 Recurrent Adrenal Crises in a Cytochrome P450 Ultra-Rapid Metabolizer
por: Meyreles Chaljub, Gustavo, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_gg646ck36r5tqmcpiv56hucav1