Literature DB >> 21115960

A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.

M Mendioroz1, I Fernández-Cadenas, A Del Río-Espinola, A Rovira, E Solé, M T Fernández-Figueras, V García-Patos, J Sastre-Garriga, S Domingues-Montanari, J Alvarez-Sabín, J Montaner.   

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Year:  2010        PMID： 21115960     DOI： 10.1212/WNL.0b013e3181ff96ac

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  23 in total

1.  The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: An atypical clinico-radiological presentation.

Authors:  Anastasia Bougea; George Velonakis; Nikolaos Spantideas; Evangelos Anagnostou; George Paraskevas; Elisabeth Kapaki; Evangelia Kararizou
Journal:  Neuroradiol J       Date:  2017-04-12

Review 2.  Genetic susceptibility to ischemic stroke.

Authors:  James F Meschia; Bradford B Worrall; Stephen S Rich
Journal:  Nat Rev Neurol       Date:  2011-05-31       Impact factor: 42.937

Review 3.  Monogenic causes of stroke: now and the future.

Authors:  Rhea Y Y Tan; Hugh S Markus
Journal:  J Neurol       Date:  2015-06-03       Impact factor: 4.849

4.  A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.

Authors:  Xiao-Ling Wang; Chuan-Fen Li; Hong-Wei Guo; Bing-Zhen Cao
Journal:  CNS Neurosci Ther       Date:  2012-08-20       Impact factor: 5.243

5.  Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.

Authors:  Ilaria Di Donato; Silvia Bianchi; Gian Nicola Gallus; Alfonso Cerase; Ilaria Taglia; Francesca Pescini; Serena Nannucci; Carla Battisti; Domenico Inzitari; Leonardo Pantoni; Andrea Zini; Antonio Federico; Maria Teresa Dotti
Journal:  CNS Neurosci Ther       Date:  2017-08-06       Impact factor: 5.243

Review 6.  Genetic factors in cerebral small vessel disease and their impact on stroke and dementia.

Authors:  Christof Haffner; Rainer Malik; Martin Dichgans
Journal:  J Cereb Blood Flow Metab       Date:  2016-01       Impact factor: 6.200

7.  A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.

Authors:  Bin Cai; Jiabin Zeng; Yi Lin; Yu Lin; WenPing Lin; Wei Lin; Zhiwen Li; Ning Wang
Journal:  Neurol Sci       Date:  2015-03-13       Impact factor: 3.307

8.  Age-related macular degeneration-associated silent polymorphisms in HtrA1 impair its ability to antagonize insulin-like growth factor 1.

Authors:  Sarah Melissa P Jacobo; Margaret M Deangelis; Ivana K Kim; Andrius Kazlauskas
Journal:  Mol Cell Biol       Date:  2013-03-11       Impact factor: 4.272

9.  A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.

Authors:  Zhaleh Khaleeli; Zane Jaunmuktane; Nathalie Beaufort; Henry Houlden; Christof Haffner; Sebastian Brandner; Martin Dichgans; David Werring
Journal:  J Neurol       Date:  2015-05-10       Impact factor: 4.849

10.  Overexpression of HTRA1 leads to ultrastructural changes in the elastic layer of Bruch's membrane via cleavage of extracellular matrix components.

Authors:  Sarah Vierkotten; Philipp S Muether; Sascha Fauser
Journal:  PLoS One       Date:  2011-08-02       Impact factor: 3.240
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