نتائج البحث - "2a" :: Library Catalog

1

Unraveling the mystery around viral 2AH/NC proteins from Picornaviruses: A structural and functional approach

المؤلفون: Pichon, Marion, 1992

المساهمون: von Castelmur, Eleonore, Associate Professor, 1981, Hammarström, Per, Professor, 1972, Sunnerhagen, Maria, Professor, 1964, Mårtensson, Lars-Göran, Associate Professor, 1964, Tuthill, Tobias J., PhD

المصدر: Linköping Studies in Science and Technology. Dissertations.

مصطلحات موضوعية: Picornavirus, PLAAT3, 2A protein, Viral evolution

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-211254
https://doi.org/10.3384/9789180753135
https://liu.diva-portal.org/smash/get/diva2:1932923/FULLTEXT01.pdf
https://liu.diva-portal.org/smash/get/diva2:1932923/PREVIEW01.png

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2

Academic Journal

Differential Downregulation of β1‐Adrenergic Receptor Signaling in the Heart

المؤلفون: Xu, Bing, Bahriz, Sherif, Salemme, Victoria R, Wang, Ying, Zhu, Chaoqun, Zhao, Meimi, Xiang, Yang K

المصدر: Journal of the American Heart Association. 13(12)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Cardiovascular, Heart Disease, 2.1 Biological and endogenous factors, Animals, Receptors, Adrenergic, beta-1, Male, Down-Regulation, Signal Transduction, Ryanodine Receptor Calcium Release Channel, Mice, Inbred C57BL, Isoproterenol, Cyclic AMP-Dependent Protein Kinases, Myocytes, Cardiac, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Calcium Channels, L-Type, Disease Models, Animal, Mice, Heart Failure, Cardiomyopathies, Fluorescence Resonance Energy Transfer, (Sarco)endoplasmic reticulum calcium ATPase 2a, cardiac contractility, F & ouml, rster resonance energy transfer, phosphodiesterase, protein kinase a, ryanodine receptor, beta(1) adrenergic receptor, Förster resonance energy transfer, β1 adrenergic receptor, Cardiorespiratory Medicine and Haematology, Cardiovascular medicine and haematology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3xx768f0
https://escholarship.org/content/qt3xx768f0/qt3xx768f0.pdf

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3

Academic Journal

Lysine (K)-specific methyltransferase 2A (KMT2A) rearrangements among Iraqi de novo acute myeloid leukemia

المؤلفون: Riyam Qusay Al Jadir, Saba Abdulmahdi Abdulameer, Jaffar Nouri Alalsaidissa, Ali AlJabban

المصدر: Iraqi Journal of Hematology, Vol 13, Iss 2, Pp 269-274 (2024)

مصطلحات موضوعية: acute myeloid leukemia, iraqi acute myeloid leukemia, lysine (k)-specific methyltransferase 2a, lysine (k)-specific methyltransferase 2a rearrangements, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://journals.lww.com/10.4103/ijh.ijh_86_24; https://doaj.org/toc/2072-8069; https://doaj.org/toc/2543-2702

URL الوصول: https://doaj.org/article/d85b9cc8bf8b4672a0e60dbc015ff952

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4

Report

Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients

المؤلفون: Instituto Mexicano del Seguro Social, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran

المساهمون: Laura Cristina Hernández Ramírez, Associate Researcher C

المصدر: Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
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Asa SL, Mete O, Cusimano MD, McCutcheon IE, Perry A, Yamada S, Nishioka H, Casar-Borota O, Uccella S, La Rosa S, Grossman AB, Ezzat S; Attendees of the 15th Meeting of the International Pituitary Pathology Club, Istanbul October 2019. Pituitary neuroendocrine tumors: a model for neuroendocrine tumor classification. Mod Pathol. 2021 Sep;34(9):1634-1650. doi: 10.1038/s41379-021-00820-y. Epub 2021 May 21.
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Crona J, Skogseid B. GEP- NETS UPDATE: Genetics of neuroendocrine tumors. Eur J Endocrinol. 2016 Jun;174(6):R275-90. doi: 10.1530/EJE-15-0972.
Furlan A, Dyachuk V, Kastriti ME, Calvo-Enrique L, Abdo H, Hadjab S, Chontorotzea T, Akkuratova N, Usoskin D, Kamenev D, Petersen J, Sunadome K, Memic F, Marklund U, Fried K, Topilko P, Lallemend F, Kharchenko PV, Ernfors P, Adameyko I. Multipotent peripheral glial cells generate neuroendocrine cells of the adrenal medulla. Science. 2017 Jul 7;357(6346):eaal3753. doi: 10.1126/science.aal3753.
Kastriti ME, Kameneva P, Kamenev D, Dyachuk V, Furlan A, Hampl M, Memic F, Marklund U, Lallemend F, Hadjab S, Calvo-Enrique L, Ernfors P, Fried K, Adameyko I. Schwann Cell Precursors Generate the Majority of Chromaffin Cells in Zuckerkandl Organ and Some Sympathetic Neurons in Paraganglia. Front Mol Neurosci. 2019 Jan 25;12:6. doi: 10.3389/fnmol.2019.00006. eCollection 2019.
Zandee WT, Kamp K, van Adrichem RC, Feelders RA, de Herder WW. Effect of hormone secretory syndromes on neuroendocrine tumor prognosis. Endocr Relat Cancer. 2017 Jul;24(7):R261-R274. doi: 10.1530/ERC-16-0538. Epub 2017 May 8.
Melmed S. Pituitary-Tumor Endocrinopathies. N Engl J Med. 2020 Mar 5;382(10):937-950. doi: 10.1056/NEJMra1810772. No abstract available.
Yao JC, Hassan M, Phan A, Dagohoy C, Leary C, Mares JE, Abdalla EK, Fleming JB, Vauthey JN, Rashid A, Evans DB. One hundred years after "carcinoid": epidemiology of and prognostic factors for neuroendocrine tumors in 35,825 cases in the United States. J Clin Oncol. 2008 Jun 20;26(18):3063-72. doi: 10.1200/JCO.2007.15.4377.
Capdevila J, Casanovas O, Salazar R, Castellano D, Segura A, Fuster P, Aller J, Garcia-Carbonero R, Jimenez-Fonseca P, Grande E, Castano JP. Translational research in neuroendocrine tumors: pitfalls and opportunities. Oncogene. 2017 Apr 6;36(14):1899-1907. doi: 10.1038/onc.2016.316. Epub 2016 Sep 19.
Buffet A, Burnichon N, Favier J, Gimenez-Roqueplo AP. An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab. 2020 Mar;34(2):101416. doi: 10.1016/j.beem.2020.101416. Epub 2020 Mar 10.
McDonnell JE, Gild ML, Clifton-Bligh RJ, Robinson BG. Multiple endocrine neoplasia: an update. Intern Med J. 2019 Aug;49(8):954-961. doi: 10.1111/imj.14394.
Chevalier B, Dupuis H, Jannin A, Lemaitre M, Do Cao C, Cardot-Bauters C, Espiard S, Vantyghem MC. Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations. Front Endocrinol (Lausanne). 2021 May 6;12:678869. doi: 10.3389/fendo.2021.678869. eCollection 2021.
Denes J, Korbonits M. The clinical aspects of pituitary tumour genetics. Endocrine. 2021 Mar;71(3):663-674. doi: 10.1007/s12020-021-02633-0. Epub 2021 Feb 4.
Pitsava G, Settas N, Faucz FR, Stratakis CA. Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency. Front Endocrinol (Lausanne). 2021 May 3;12:680609. doi: 10.3389/fendo.2021.680609. eCollection 2021.
Halperin R, Tirosh A. Non-Interventional Management of Advanced Pancreatic Neuroendocrine Neoplasms in Patients with von Hippel-Lindau Disease. Cancers (Basel). 2023 Mar 13;15(6):1739. doi: 10.3390/cancers15061739.
WILLIAMS ED. A REVIEW OF 17 CASES OF CARCINOMA OF THE THYROID AND PHAEOCHROMOCYTOMA. J Clin Pathol. 1965 May;18(3):288-92. doi: 10.1136/jcp.18.3.288.
Chong GC, Beahrs OH, Sizemore GW, Woolner LH. Medullary carcinoma of the thyroid gland. Cancer. 1975 Mar;35(3):695-704. doi: 10.1002/1097-0142(197503)35:33.0.co;2-w.
Fountain JW, Wallace MR, Brereton AM, O'Connell P, White RL, Rich DC, Ledbetter DH, Leach RJ, Fournier RE, Menon AG, et al. Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet. 1989 Jan;44(1):58-67.
Ledbetter DH, Rich DC, O'Connell P, Leppert M, Carey JC. Precise localization of NF1 to 17q11.2 by balanced translocation. Am J Hum Genet. 1989 Jan;44(1):20-4.
Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993 May 28;260(5112):1317-20. doi: 10.1126/science.8493574.
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 1997 Apr 18;276(5311):404-7. doi: 10.1126/science.276.5311.404.
Wells SA Jr, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF, Lee N, Machens A, Moley JF, Pacini F, Raue F, Frank-Raue K, Robinson B, Rosenthal MS, Santoro M, Schlumberger M, Shah M, Waguespack SG; American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015 Jun;25(6):567-610. doi: 10.1089/thy.2014.0335.
Iacovazzo D, Hernandez-Ramirez LC, Korbonits M. Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening. Expert Rev Endocrinol Metab. 2017 Mar;12(2):143-153. doi: 10.1080/17446651.2017.1306439.
Papathomas TG, Suurd DPD, Pacak K, Tischler AS, Vriens MR, Lam AK, de Krijger RR. What Have We Learned from Molecular Biology of Paragangliomas and Pheochromocytomas? Endocr Pathol. 2021 Mar;32(1):134-153. doi: 10.1007/s12022-020-09658-7. Epub 2021 Jan 12.
Jha S, Simonds WF. Molecular and Clinical Spectrum of Primary Hyperparathyroidism. Endocr Rev. 2023 Sep 15;44(5):779-818. doi: 10.1210/endrev/bnad009.
Perez-Rivas LG, Simon J, Albani A, Tang S, Roeber S, Assie G, Deutschbein T, Fassnacht M, Gadelha MR, Hermus AR, Stalla GK, Tichomirowa MA, Rotermund R, Flitsch J, Buchfelder M, Nasi-Kordhishti I, Honegger J, Thorsteinsdottir J, Saeger W, Herms J, Reincke M, Theodoropoulou M. TP53 mutations in functional corticotroph tumors are linked to invasion and worse clinical outcome. Acta Neuropathol Commun. 2022 Sep 19;10(1):139. doi: 10.1186/s40478-022-01437-1.
Lin AL, Rudneva VA, Richards AL, Zhang Y, Woo HJ, Cohen M, Tisnado J, Majd N, Wardlaw SL, Page-Wilson G, Sengupta S, Chow F, Goichot B, Ozer BH, Dietrich J, Nachtigall L, Desai A, Alano T, Ogilive S, Solit DB, Bale TA, Rosenblum M, Donoghue MTA, Geer EB, Tabar V. Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors. Acta Neuropathol. 2024 May 17;147(1):85. doi: 10.1007/s00401-024-02736-8.
Webster AP, Thirlwell C. The Molecular Biology of Midgut Neuroendocrine Neoplasms. Endocr Rev. 2024 May 7;45(3):343-350. doi: 10.1210/endrev/bnad034.
Denes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, Fersht N, Baldeweg SE, Morris D, Lightman S, Agha A, Rees A, Grieve J, Powell M, Boguszewski CL, Dutta P, Thakker RV, Srirangalingam U, Thompson CJ, Druce M, Higham C, Davis J, Eeles R, Stevenson M, O'Sullivan B, Taniere P, Skordilis K, Gabrovska P, Barlier A, Webb SM, Aulinas A, Drake WM, Bevan JS, Preda C, Dalantaeva N, Ribeiro-Oliveira A Jr, Garcia IT, Yordanova G, Iotova V, Evanson J, Grossman AB, Trouillas J, Ellard S, Stratakis CA, Maher ER, Roncaroli F, Korbonits M. Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. doi: 10.1210/jc.2014-3399. Epub 2014 Dec 12.
Xekouki P, Szarek E, Bullova P, Giubellino A, Quezado M, Mastroyannis SA, Mastorakos P, Wassif CA, Raygada M, Rentia N, Dye L, Cougnoux A, Koziol D, Sierra Mde L, Lyssikatos C, Belyavskaya E, Malchoff C, Moline J, Eng C, Maher LJ 3rd, Pacak K, Lodish M, Stratakis CA. Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. J Clin Endocrinol Metab. 2015 May;100(5):E710-9. doi: 10.1210/jc.2014-4297. Epub 2015 Feb 19.
Persani L, de Filippis T, Colombo C, Gentilini D. GENETICS IN ENDOCRINOLOGY: Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks. Eur J Endocrinol. 2018 Sep;179(3):R111-R123. doi: 10.1530/EJE-18-0379. Epub 2018 Jun 7.
Seabrook AJ, Harris JE, Velosa SB, Kim E, McInerney-Leo AM, Dwight T, Hockings JI, Hockings NG, Kirk J, Leo PJ, Love AJ, Luxford C, Marshall M, Mete O, Pennisi DJ, Brown MA, Gill AJ, Hockings GI, Clifton-Bligh RJ, Duncan EL. Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5? J Clin Endocrinol Metab. 2021 Mar 25;106(4):1163-1182. doi: 10.1210/clinem/dgaa957.
Seabrook A, Wijewardene A, De Sousa S, Wong T, Sheriff N, Gill AJ, Iyer R, Field M, Luxford C, Clifton-Bligh R, McCormack A, Tucker K. MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations. J Clin Endocrinol Metab. 2022 Jul 14;107(8):2339-2349. doi: 10.1210/clinem/dgac162.
Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML; Endocrine Society. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011. doi: 10.1210/jc.2012-1230. Epub 2012 Jun 20.
Hernandez-Ramirez LC, Gabrovska P, Denes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54. doi: 10.1210/jc.2015-1869.
Silva-Zolezzi I, Hidalgo-Miranda A, Estrada-Gil J, Fernandez-Lopez JC, Uribe-Figueroa L, Contreras A, Balam-Ortiz E, del Bosque-Plata L, Velazquez-Fernandez D, Lara C, Goya R, Hernandez-Lemus E, Davila C, Barrientos E, March S, Jimenez-Sanchez G. Analysis of genomic diversity in Mexican Mestizo populations to develop genomic medicine in Mexico. Proc Natl Acad Sci U S A. 2009 May 26;106(21):8611-6. doi: 10.1073/pnas.0903045106. Epub 2009 May 11.
Ziyatdinov A, Torres J, Alegre-Diaz J, Backman J, Mbatchou J, Turner M, Gaynor SM, Joseph T, Zou Y, Liu D, Wade R, Staples J, Panea R, Popov A, Bai X, Balasubramanian S, Habegger L, Lanche R, Lopez A, Maxwell E, Jones M, Garcia-Ortiz H, Ramirez-Reyes R, Santacruz-Benitez R, Nag A, Smith KR, Damask A, Lin N, Paulding C, Reppell M, Zollner S, Jorgenson E, Salerno W, Petrovski S, Overton J, Reid J, Thornton TA, Abecasis G, Berumen J, Orozco-Orozco L, Collins R; Regeneron Genetics Center; Mexico City Prospective Study; Baras A, Hill MR, Emberson JR, Marchini J, Kuri-Morales P, Tapia-Conyer R. Genotyping, sequencing and analysis of 140,000 adults from Mexico City. Nature. 2023 Oct;622(7984):784-793. doi: 10.1038/s41586-023-06595-3. Epub 2023 Oct 11. Erratum In: Nature. 2024 Feb;626(8001):E18. doi: 10.1038/s41586-024-07051-6.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

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5

Academic Journal

Advances in synaptic PET imaging and intervention with synapse-targeted small-molecular drugs for dementia diagnosis and therapy

المؤلفون: Xiuhong Lu, Bin Ji, Gang Huang, Hong Ding

المصدر: Fundamental Research, Vol 5, Iss 1, Pp 63-71 (2025)

مصطلحات موضوعية: Synaptic density imaging, Synaptic vesicle protein 2A, Dementia, Multimodal imaging, UCB-J, Positron emission tomography, Science (General), Q1-390

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667325824001596; https://doaj.org/toc/2667-3258

URL الوصول: https://doaj.org/article/9400209e363541139fa81dc3ba11563f

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6

Academic Journal

Developing polycistronic expression tool in Yarrowia lipolytica

المؤلفون: Donghan Li, Jianhui Liu, Lingxuan Sun, Jin Zhang, Jin Hou

المصدر: Synthetic and Systems Biotechnology, Vol 10, Iss 1, Pp 127-132 (2025)

مصطلحات موضوعية: Yarrowia lipolytica, 2A peptides, Multi-gene expression tools, Canthaxanthin, Biotechnology, TP248.13-248.65, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405805X24001297; https://doaj.org/toc/2405-805X

URL الوصول: https://doaj.org/article/0e38262297c847a289c7a2921f7e3029

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7

Academic Journal

SV2A PET imaging in human neurodegenerative diseases.

المؤلفون: Bavarsad, Mahsa, Grinberg, Lea

مصطلحات موضوعية: 11C-UCB-J, SV2A PET, neurodegeneration, synaptic loss, synaptic vesicle glycoprotein 2A (SV2A)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9jd0562q
https://escholarship.org/content/qt9jd0562q/qt9jd0562q.pdf

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8

Report

Familial Investigations of Childhood Cancer Predisposition (SJFAMILY)

المصدر: Familial Investigations of Childhood Cancer Predisposition

View record in ClinicalTrials.gov

9

Report

Early Check: Expanded Screening in Newborns

المؤلفون: University of North Carolina, Chapel Hill, The John Merck Fund, Duke University, Wake Forest University, North Carolina Department of Health and Human Services, National Center for Advancing Translational Sciences (NCATS), Cure SMA, The National Fragile X Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Asuragen, Inc., Sarepta Therapeutics, Inc., Muscular Dystrophy Association, The Leona M. and Harry B. Helmsley Charitable Trust, Juvenile Diabetes Research Foundation, Janssen Pharmaceuticals, GeneDx, Illumina, Inc.

المصدر: Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns
Finkel, Mercuri, Darras, Kuntz, Kirschner et al, 2017
Birnkrant, et al, 2018
Winarni, Schneider, Borodyanskara, & Hagerman, 2012
Bailey, Raspa, Bishop & Holiday, 2009
Gehtland LM, Paquin RS, Andrews SM, Lee AM, Gwaltney A, Duparc M, Pfaff ER, Bailey DB Jr. Using a Patient Portal to Increase Enrollment in a Newborn Screening Research Study: Observational Study. JMIR Pediatr Parent. 2022 Feb 10;5(1):e30941. doi: 10.2196/30941.
Bailey DB Jr, Gehtland LM, Lewis MA, Peay H, Raspa M, Shone SM, Taylor JL, Wheeler AC, Cotten M, King NMP, Powell CM, Biesecker B, Bishop CE, Boyea BL, Duparc M, Harper BA, Kemper AR, Lee SN, Moultrie R, Okoniewski KC, Paquin RS, Pettit D, Porter KA, Zimmerman SJ. Early Check: translational science at the intersection of public health and newborn screening. BMC Pediatr. 2019 Jul 17;19(1):238. doi: 10.1186/s12887-019-1606-4.

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