Search Results

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Authors: Nyström, AM; Ekvall, S; Allanson, J; Edeby, C; Elinder, M; Holmström, G; Bondeson, ML; Annerén, G

Source: Clinical Genetics, Volume 76, Number 6, December 2009 , pp. 524-534(11)

Publisher: Blackwell Publishing

An F-box gene, CPR30, functions as a negative regulator of the defense response in Arabidopsis

Authors: Gou, Mingyue; Su, Nan; Zheng, Jun; Huai, Junling; Wu, Guangheng; Zhao, Jinfeng; He, Junguang; Tang, Dingzhong; Yang, Shuhua; Wang, Guoying

Source: The Plant Journal, Volume 60, Number 5, December 2009 , pp. 757-770(14)

Publisher: Blackwell Publishing

Hypoxia-inducible factor-1α blocks differentiation of malignant gliomas

Authors: Lu, Huimin; Li, Yan; Shu, Minfeng; Tang, Jianjun; Huang, Yijun; Zhou, Yuxi; Liang, Yingjie; Yan, Guangmei

Source: FEBS Journal, Volume 276, Number 24, December 2009 , pp. 7291-7304(14)

Publisher: Blackwell Publishing

Syndactyly lethal: New mutation with multiple malformations occurring in Sprague Dawley rats

Authors: Fujii, Sakiko; Yabe, Kaoru; Kimura, Yuki; Ito, Yukie; Rokukawa, Masumi; Furukawa, Masatoshi; Ito, Kouta; Matsuura, Masao; Kiguchi, Masao

Source: Congenital Anomalies, Volume 49, Number 4, December 2009 , pp. 262-268(7)

Publisher: Blackwell Publishing

Role of inflammation in the pathogenesis of age-related macular degeneration

Authors: Scholl, Stefan; Kirchhof, Janna; Augustin, Albert J

Source: Expert Review of Ophthalmology, Volume 4, Number 6, December 2009 , pp. 617-625(9)

Publisher: Expert Reviews

Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young

Authors: Beijers, H. J. B. H.; Losekoot, M.; Odink, R. J.; Bravenboer, B.

Source: Diabetic Medicine, Volume 26, Number 11, November 2009 , pp. 1172-1174(3)

Publisher: Blackwell Publishing

Paroxysmal nocturnal haemoglobinuria: diagnostic tests, advantages, & limitations

Authors: Madkaikar, Manisha; Gupta, Maya; Jijina, Farah; Ghosh, Kanjaksha

Source: European Journal of Haematology, Volume 83, Number 6, December 2009 , pp. 503-511(9)

Publisher: Blackwell Publishing

Rhes, a protein with selective expression in the striatum, plays a major role in Huntington's disease pathogenesis

Authors: Galvan, Laurie; Brouillet, Emmanuel

Source: Future Neurology, Volume 4, Number 6, November 2009 , pp. 697-701(5)

Publisher: Future Medicine

A Role for the Karyopherin Kap123p in Microtubule Stability

Authors: Ptak, Christopher; Anderson, Andrea M.; Scott, Robert J.; Van de Vosse, David; Rogers, Richard S.; Sydorskyy, Yaroslav; Aitchison, John D.; Wozniak, Richard W.

Source: Traffic, Volume 10, Number 11, November 2009 , pp. 1619-1634(16)

Publisher: Blackwell Publishing

Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia

Authors: KANNAN, M.; AHMAD, F.; YADAV, B. K.; KUMAR, R.; CHOUDHRY, V. P.; SAXENA, R.

Source: Journal of Thrombosis and Haemostasis, Volume 7, Number 11, November 2009 , pp. 1878-1885(8)

Publisher: Blackwell Publishing

NF-κB regulates the transcription of protein tyrosine kinase Tec

Authors: Yu, Liang; Simonson, Oscar E.; Mohamed, Abdalla J.; Smith, C. I. Edvard

Source: FEBS Journal, Volume 276, Number 22, November 2009 , pp. 6714-6724(11)

Publisher: Blackwell Publishing

SWAP-70-like adapter of T cells: a novel Lck-regulated guanine nucleotide exchange factor coordinating actin cytoskeleton reorganization and Ca²⁺ signaling in T cells

Authors: Bécart, Stéphane; Altman, Amnon

Source: Immunological Reviews, Volume 232, Number 1, November 2009 , pp. 319-333(15)

Publisher: Blackwell Publishing

Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree

Authors: YU, T.; WANG, X.; DING, Q.; FU, Q.; DAI, J.; LU, Y.; XI, X.; WANG, H.

Source: Haemophilia, Volume 15, Number 6, November 2009 , pp. 1262-1266(5)

Publisher: Blackwell Publishing

Profiling of factor VIII mutations in Korean haemophilia A

Authors: HWANG, S. H.; KIM, M. J.; LIM, J. A.; KIM, H. C.; KIM, H. S.

Source: Haemophilia, Volume 15, Number 6, November 2009 , pp. 1311-1317(7)

Publisher: Blackwell Publishing

Multiple endocrine neoplasia type 2

Authors: Lips, Cornelis JM; van Veelen, Wendy; Links, Thera P; Höppener, Jo WM

Source: Expert Review of Endocrinology and Metabolism, Volume 4, Number 5, September 2009 , pp. 443-465(23)

Publisher: Expert Reviews

An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution

Authors: BERBER, E.; JAMES, P. D.; HOUGH, C.; LILLICRAP, D.

Source: Journal of Thrombosis and Haemostasis, Volume 7, Number 10, October 2009 , pp. 1672-1679(8)

Publisher: Blackwell Publishing

Short Telomeres Resulting from Heritable Mutations in the Telomerase Reverse Transcriptase Gene Predispose for a Variety of Malignancies

Authors: Hills, Mark; Lansdorp, Peter M.

Source: Annals of the New York Academy of Sciences, Volume 1176, Number 1, September 2009 , pp. 178-190(13)

Publisher: Blackwell Publishing

Downregulation of oxytocin and natriuretic peptides in diabetes: possible implications in cardiomyopathy

Authors: Gutkowska, Jolanta; Broderick, Tom L.; Bogdan, Danalache; Wang, Donghao; Lavoie, Jean-Marc; Jankowski, Marek

Source: The Journal of Physiology, Volume 587, Number 19, October 2009 , pp. 4725-4736(12)

Publisher: Blackwell Publishing

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

Authors: Marsh, Eric; Fulp, Carl; Gomez, Ernest; Nasrallah, Ilya; Minarcik, Jeremy; Sudi, Jyotsna; Christian, Susan L.; Mancini, Grazia; Labosky, Patricia; Dobyns, William; Brooks-Kayal, Amy; Golden, Jeffrey A.

Source: Brain, Volume 132, Number 6, 30 June 2009 , pp. 1563-1576(14)

Publisher: Oxford University Press

The Influence of Brain Injury or Peripheral Nerve Injury on Calcitonin Gene-Related Peptide Concentration Variation and Fractures Healing Process

Authors: Zhang, Dianying; Zhang, Peixun; Wang, Yanhua; Han, Na; Tang, Chi; Jiang, Baoguo

Source: Artificial Cells, Blood Substitutes, and Biotechnology (formerly known as Artif, Volume 37, Number 2, February 2009 , pp. 85-91(7)

Publisher: Taylor and Francis Ltd