Výsledky vyhledávání - "Shodimu-Emmanuel Olufemi"

Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

Autor: Ralf Krahe, Anna Vihola, Shodimu Emmanuel Olufemi, Mario Sirito, Yi-Ping Li, Jeanette Holmlund-Hampf, Hannu Haapasalo, Bjarne Udd, Linda L. Bachinski, Olayinka Raheem

Publikováno v: The American Journal of Pathology. 177:3025-3036

The mutation that underlies myotonic dystrophy type 2 (DM2) is a (CCTG)n expansion in intron 1 of zinc finger protein 9 (ZNF9). It has been suggested that ZNF9 is of no consequence for disease pathogenesis. We determined the expression levels of ZNF9

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3dcc9625779201744b2a36fa20c795
https://doi.org/10.2353/ajpath.2010.100179

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Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

Autor: Olayinka Raheem, Anna Vihola, Anders Paetau, Jeanette Holmlund-Hampf, Shodimu-Emmanuel Olufemi, Giovanni Meola, Ralf Krahe, Lars Edström, Shohrae Hajibashi, Hannu Haapasalo, Bjarne Udd, Tiina Suominen, Keith A. Baggerly, Linda L. Bachinski, Rosanna Cardani, Hannu Kalimo, Mario Sirito

Publikováno v: Acta Neuropathologica. 119:465-479

Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of-function has been suggested to cause the complex phenotype in myotonic dystrophies type 1 and 2 (DM1 and DM2). However, the molecular basis of muscle weakn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3e9188c53005d71eb5d4f37486d4fc
https://doi.org/10.1007/s00401-010-0637-6

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Intestinal Ischemic Preconditioning After Ischemia/Reperfusion Injury in Rat Intestine: Profiling Global Gene Expression Patterns

Autor: Rosemary A. Kozar, Steven T. Lott, Bruce C. Kone, Ravi S. Radhakrishnan, Stacey D. Moore-Olufemi, Shodimu Emmanuel Olufemi, Shinil K. Shah, Frederick A. Moore, Norio Sato, Fernando Jimenez, Charles S. Cox

Publikováno v: Digestive Diseases and Sciences. 55:1866-1877

Intestinal ischemia/reperfusion (IR) injury involves activation of inflammatory mediators, mucosal necrosis, ileus, and alteration in a variety of gene products. Ischemic preconditioning (IPC) reduced all the effects of intestinal injury seen in IR.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c02d84306ee33e962327a119cba61ff1
https://doi.org/10.1007/s10620-009-0980-4

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Intestinal Edema: Effect of Enteral Feeding on Motility and Gene Expression

Autor: Stacey D. Moore-Olufemi, Hasen Xue, Glen A. Laine, Frederick A. Moore, Randy Stewart, S.J. Allen, Dwight H Oliver, Charles S. Cox, Ravi S. Radhakrishnan, Shodimu Emmanuel Olufemi, Jeff Padalecki

Publikováno v: Journal of Surgical Research. 155:283-292

Objective Edema formation, inflammation, and ileus in the intestine are commonly seen in conditions like gastroschisis, inflammatory bowel disease, and cirrhosis. We hypothesized that early enteral feeding would improve intestinal transit. We also wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e504ce1dd9f659969b626b69a65c97cb
https://doi.org/10.1016/j.jss.2008.08.040

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Common ancestral mutations in theMEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland

Autor: Shodimu Emmanuel Olufemi, Allen M. Spiegel, Francis S. Collins, Sunita K. Agarwal, Settara C. Chandrasekharappa, Stephen J. Marx, A. Lee Burns, Jane Green, Qihan Dong, Siradanahalli C. Guru, Mary Beth Kester, Pachiappan Manickam

Publikováno v: Human Mutation. 11:264-269

Familial multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with affected individuals developing parathyroid, gastrointestinal (GI) endocrine, and anterior pituitary tumors. Four large kindreds from the Burin peninsula/Fortu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a7e7af38a19a28642c201bf2a7f14ad6
https://doi.org/10.1002/(sici)1098-1004(1998)11:4<264::aid-humu2>3.0.co

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A Transcript Map for the 2.8-Mb Region Containing the Multiple Endocrine Neoplasia Type 1 Locus

Autor: Lance A. Liotta, Francis S. Collins, Burns Lee, Bruce A. Roe, Settara C. Chandrasekharappa, Pachiappan Manickam, Siradanahalli C. Guru, Yingping Wang, Shodimu Emmanuel Olufemi, Allen M. Spiegel, Jane M. Weisemann, Sunita K. Agarwal, Young Sik Kim, Mark S. Boguski, Michael R. Emmert-Buck, Stephen J. Marx, Mary Beth Kester, Judy S. Crabtree

Publikováno v: Genome Research. 7:725-735

Multiple endocrine neoplasia type 1 (MEN 1) is an inherited cancer syndrome in which affected individuals develop multiple parathyroid, enteropancreatic, and pituitary tumors. The locus for MEN1 is tightly linked to the marker PYGM on chromosome 11q1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11274901a4963f813892ce7a1709a3fc
https://doi.org/10.1101/gr.7.7.725

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Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23

Autor: Linda L. Bachinski, Shodimu-Emmanuel Olufemi, Xiaojun Zhou, Chih-Chieh Wu, Linwah Yip, Sanjay Shete, Guillermina Lozano, Christopher I. Amos, Louise C. Strong, Ralf Krahe

Publikováno v: Cancer research. 65(2)

Li-Fraumeni syndrome (LFS) is a clinically and genetically heterogeneous inherited cancer syndrome. Most cases (∼70%) identified and characterized to date are associated with dominantly inherited germ line mutations in the tumor suppressor gene TP5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::239a9ea90555bd0016fafb27841d8c14
https://pubmed.ncbi.nlm.nih.gov/15695383

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11q13 allelotype analysis in 27 northern American MEN1 kindreds identifies two distinct founder chromosomes

Autor: Sunita K. Agarwal, Stephen J. Marx, Larisa V. Debelenko, Mary Beth Kester, A. Lee Burns, Michael R. Emmert-Buck, Irina A. Lubensky, Shodimu Emmanuel Olufemi, Allen M. Spiegel, Lance A. Liotta, Francis S. Collins, Zhengping Zhuang, Siradanahalli C. Guru, Settara C. Chandrasekharappa, Monica C. Skarulis, Pachiappan Manickam

Publikováno v: Molecular genetics and metabolism. 63(2)

We analyzed constitutional and tumor DNA from 27 MEN1 kindreds not known to be related to each other. Disease allele haplotypes were constructed for each pedigree based on shared alleles from two or more affected members and from determination of all

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a493ff5c9ea7b50631d356c5cec71eeb
https://pubmed.ncbi.nlm.nih.gov/9562970

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