Results 101 to 110 of about 12,302 (171)

Alternative splicing generates isoform diversity in MEN1

Although the gene MEN1 has a long-standing association with cancer, its mechanisms of action remain incompletely understood, acting both as a tumour suppressor in neuroendocrine tumours and as an oncogene in leukaemia.
Lawrence, Ben, Pattison, Sharon, Boyle, Veronica, Ramachandran, Anassuya, Veronica Boyle, Sharon Pattison, Ben Lawrence, Print, Cris, Polona Le Quesne Stabej, Le Quesne Stabej, Polona, Anassuya Ramachandran, Cris Print, Elston, Marianne S, Marianne S Elston   +13 more
core   +1 more source

MEN1 Syndrome and Hibernoma: An Uncommonly Recognised Association?

, 2014
MEN1 syndrome is known to classically result in parathyroid, pituitary, and pancreatic islet cell tumours. However, the potential association of MEN1 syndrome with hibernoma, a benign tumour with differentiation towards brown fat, is far less well known,
Eleanor Moskovic, Khin Thway, J. Meirion Thomas, Venus Hedayati   +3 more
core   +1 more source

Case report: Comprehensive follow-up of a Colombian family carrying a novel MEN1 variant linked to a rare ACTH-producing pancreatic neuroendocrine carcinoma

Frontiers in Endocrinology
BackgroundMultiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder marked by pathogenic variants in the MEN1 tumor suppressor gene, leading to tumors in the parathyroid glands, pancreas, and pituitary. The occurrence of ACTH-producing
Julián C. Riaño-Moreno, Julián C. Riaño-Moreno, Julián C. Riaño-Moreno, Angélica María González-Clavijo, Angélica María González-Clavijo, William C. Torres J., Vilma L. Medina B., Alfredo Ernesto Romero-Rojas, Isabella Vieda-Celemin, Jordan A. Avila-Moya, Johan A. Baron-Cardona, Juan P. Bravo-Patiño, Oscar S. Torres-Zambrano, Luis Felipe Fierro Maya   +13 more
doaj   +1 more source

Glucose metabolic phenotypes and mechanisms in MEN1 mouse model [PDF]

, 2016
Ⅰ型多发性内分泌肿瘤（MEN1）是一种常染色体显性遗传综合征，以在甲状旁腺、内分泌胰腺和垂体前叶中的多种肿瘤发生为特征。最近的临床研究显示MEN1综合征和糖尿病发病风险之间具有很强的相关性；但是，潜在的机制尚不清楚。在本次研究中，杂合型Men1敲除（Men1+/-）小鼠用作MEN1模型来研究MEN1相关的葡萄糖代谢表型和机制。在12个月大的雄性小鼠中Men1的杂合型缺失能够引起空腹高血糖症，同时伴随血清胰岛素水平的增加。然而，正如肝脏组织中Akt的激活和胰岛素耐量实验证实的那样，雄性Men1 ...
高钟秀子
core  

Nuclear exclusion of menin drives functional MEN1 deficiency in non-MEN1 prolactinomas: mouse models and human biopsies

Prolactinomas, the most common secretory pituitary tumour subtype, frequently occur in patients with Multiple Endocrine Neoplasia type 1, caused by germline MEN1 mutations encoding menin.
RM Luque, D Bornancini, Á Flores-Martínez, SB Rulli, M Peña-Zanoni, Victoria Segobia, AI Abeledo Machado, G Díaz-Torga   +7 more
core   +1 more source

Novel Mutations in Serbian MEN1 Patients: Genotype-Phenotype Correlation

, 2019
Summary Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome characterized by the occurrence of primary hyperparathyroidism (PHPT), pituitary adenoma (PA) and pancreatic neuroendocrine tumor (pNET).
Tatjana Isailovic, Ivana Milicevic, Milan Petakov, Djuro Macut, Valentina Elezovic Kovacevic, Ivana Bozic Antic, Bojana Popovic, Svetozar Damjanovic, Sanja Ognjanovic, Dusan Ilic, Tamara Bogavac   +10 more
core   +1 more source

Novel MEN1-associated retroperitoneal pleomorphic liposarcoma

Rare Tumors
Soft tissue sarcomas are rarely associated with mutations of the MEN1 gene. We report a patient with a large retroperitoneal pleomorphic liposarcoma harboring a rare mutation of the MEN1 gene not previously reported to be associated with soft tissue ...
Christopher F McNicoll, Jessica Belmonte, Itzhak Nir, Benjamin D Ferguson   +3 more
doaj   +1 more source

[A combination of endogenous hypercortisolism and primary hyperparathyroidism: clinical and genetic characteristics]. [PDF]

Probl Endokrinol (Mosk)
Mamedova EO, Przhiyalkovskaya EG, Rozhinskaya LY, Yanar EA, Chugunov IS, Kolodkina AA, Vasilyev EV, Tiulpakov AN, Belaya ZE, Melnichenko GA.   +9 more
europepmc   +1 more source

Clinical features of MEN1 in children, adolescents, and young adults: a single-center study. [PDF]

Front Endocrinol (Lausanne)
Della Valentina S, Pierotti L, Pardi E, Sardella C, Dal Lago A, Michelucci A, Caligo MA, Materazzi G, Frustaci G, Kauffmann EF, Boggi U, Piaggi P, Marcocci C, Cetani F.   +13 more
europepmc   +1 more source

Pathogenic mobile element insertion in the <i>MEN1</i> gene mimicking a deletion in MLPA: characterisation by long-read sequencing. [PDF]

J Med Genet
Pfeifer A, Zebracka-Gala J, Pawlaczek A, Zajkowicz A, Abramowicz A, Tecza K, Kotecka-Blicharz A, Langer-Maciol H, Cieslicka M, Rusinek D, Porc M, Cyplinska R, Oczko-Wojciechowska M.   +12 more
europepmc   +1 more source