Results 131 to 140 of about 37,714 (305)

A Case Report of Multiple Endocrine Neoplasia Type IIa Associated with Cushing Syndrome

پزشکی بالینی ابن سینا, 2013
Introduction: Multiple endocrine neoplasia type IIa (MEN IIa) is an autosomal dominant syndrome characterized bypheochromocytoma ,medullary thyroid carcinoma and hyperparathyroidism.
Shiva Borzouei, Vida Sheikh, Seyyed Habib Allah Mosavi Bahar, Ali Yousefian, Radin Maheronnaghsh   +4 more
doaj  

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

Case Reports in Genetics, 2015
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson   +9 more
doaj   +1 more source

Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile

JIMD Reports
Three clinical entities of multiple acyl‐CoA dehydrogenase deficiency (MADD, OMIM#231680) can be differentiated: two severe neonatal forms and one later‐onset form that can manifest in adulthood. The latter typically presents with muscle‐related symptoms,
Romain Penicaud, Jean‐Baptiste Ferron, Xavier Valette, Pierrick Bauduin, Maxime Faisant, Manuel Schiff, Alexandre Nguyen, Fanny Fontaine, Stéphane Allouche   +8 more
doaj   +1 more source

EDNRB‐dependent endothelin signaling reduces proliferation and promotes proneural‐to‐mesenchymal transition in gliomas

Molecular Oncology, EarlyView.
Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau, Leonor Garcia, Hugo Arnold, Antonija Hanžek, Maialen Arrieta, Laurent R Gauthier, Christine Granotier‐Beckers, François D Boussin, Amaury Herbet, Marie Hautière, Valentin Asei‐Ceschino, Clémentin Jacques, Laura Brard, Thomas Harnois, Valérie Coronas, Bruno Constantin, Aurélien Chatelier, Jean Chemin, Serge Urbach, Martial Seveno, Szimonetta Hideg, Chantal Ripoll, Kasandra Aguilar‐Cázarez, Min Zheng, Guo‐Hao Huang, Sheng‐Qing Lv, Lei Zhang, Philippe Rondard, Laurent Prezeau, Jean‐Philippe Pin, Hugues Duffau, Luc Bauchet, Valérie Rigau, Franck Denat, Charles Truillet, Didier Boquet, Jean‐Philippe Hugnot   +36 more
wiley   +1 more source

Gender discourses and state practices in civil war: a case study of the Democratic Republic of Congo and Sierra Leone [PDF]

, 2016
The post-colonial period in many African countries was, and still is, marked by political breakdown, authoritarianism and war. African state institutions saw fragmentation, breakdown and in some cases, failure.
Sumah, Awo Yayra
core  

Engineered extracellular vesicles enriched with the miR‐214/199a cluster enhance the efficacy of chemotherapy in ovarian cancer

Molecular Oncology, EarlyView.
Loss of the miR‐214/199a cluster is associated with recurrence in ovarian cancer. Engineered small extracellular vesicles (m214‐sEVs) elevate miR‐214‐3p/miR‐199a‐5p in tumor cells, suppress β‐catenin, TLR4, and YKT6 signaling, reprogram tumor‐derived sEV cargo, reduce chemoresistance and migration, and enhance carboplatin efficacy and survival in ...
Weida Wang, Ayesha Alvero, Yi Qin, Mingjin Wang, Alexandra Fox, Yanfeng Li, Michael Millman, Amy Kemper, Gil Mor, Xian Shuang Liu, Michael Chopp, Zheng Gang Zhang, Yi Zhang   +12 more
wiley   +1 more source

IMPDH inhibition enhances cytarabine efficacy in SAMHD1‐expressing leukaemia cells via guanine nucleotide depletion

Molecular Oncology, EarlyView.
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla, Christopher Dirks, Caroline Eiden, Sonja K. Fesenmayer, Femke M. Hormann, Yolande Klootsema, Ingrid Lilienthal, Si Min Zhang, Nikolas Herold, Sean G. Rudd   +9 more
wiley   +1 more source

Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study

BMC Ophthalmology
Background Primary mitochondrial myopathies (PMM) are disorders that involve defects in oxidative phosphorylation (OXPHOS) and impair mainly, but not exclusively, skeletal muscles.
Gustavo Savino, Federico Giannuzzi, Valentina Cima, Davide Brando, Claudia Fossataro, Serenella Servidei, Maria Cristina Savastano, Guido Primiano   +7 more
doaj   +1 more source

Neurological and pulmonary adverse effects of subcutaneous methotrexate therapy

, 2008
We report the case of a patient receiving subcutaneous methotrexate (MTX) treatment for rheumatoid arthritis (RA) who developed a complex pattern of neurological and pulmonary symptoms.
Sommer, W.H., Keta, A., Abou-Hajar, A., Ganiere, V., Sommer, W H., Dudler, J., Ganiere, Vincent, Gachoud, D., Aujesky, D.   +8 more
core   +1 more source