Literature DB >> 25957642

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

Zhaleh Khaleeli1, Zane Jaunmuktane, Nathalie Beaufort, Henry Houlden, Christof Haffner, Sebastian Brandner, Martin Dichgans, David Werring.   

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Year:  2015        PMID： 25957642     DOI： 10.1007/s00415-015-7769-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  10 in total

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

Authors:  M Mendioroz; 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
Journal:  Neurology       Date:  2010-11-30       Impact factor: 9.910

2.  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

3.  Two novel HTRA1 mutations in a European CARASIL patient.

Authors:  Silvia Bianchi; Chiara Di Palma; Gian Nicola Gallus; Ilaria Taglia; Antonella Poggiani; Francesca Rosini; Alessandra Rufa; Dafin Fior Muresanu; Alfonso Cerase; Maria Teresa Dotti; Antonio Federico
Journal:  Neurology       Date:  2014-02-05       Impact factor: 9.910

Review 4.  Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification.

Authors:  Toshio Fukutake
Journal:  J Stroke Cerebrovasc Dis       Date:  2011-01-07       Impact factor: 2.136

5.  Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

Authors:  Kenju Hara; Atsushi Shiga; Toshio Fukutake; Hiroaki Nozaki; Akinori Miyashita; Akio Yokoseki; Hirotoshi Kawata; Akihide Koyama; Kunimasa Arima; Toshiaki Takahashi; Mari Ikeda; Hiroshi Shiota; Masato Tamura; Yutaka Shimoe; Mikio Hirayama; Takayo Arisato; Sohei Yanagawa; Akira Tanaka; Imaharu Nakano; Shu-ichi Ikeda; Yutaka Yoshida; Tadashi Yamamoto; Takeshi Ikeuchi; Ryozo Kuwano; Masatoyo Nishizawa; Shoji Tsuji; Osamu Onodera
Journal:  N Engl J Med       Date:  2009-04-23       Impact factor: 91.245

6.  A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).

Authors:  Yan Chen; Zhiyi He; Su Meng; Lei Li; Hua Yang; Xiaotang Zhang
Journal:  J Int Med Res       Date:  2013-08-20       Impact factor: 1.671

7.  Inhibition of serotonin reuptake by antidepressants and cerebral microbleeds in the general population.

Authors:  Nikkie Aarts; Saloua Akoudad; Raymond Noordam; Albert Hofman; M Arfan Ikram; Bruno H Stricker; Loes E Visser; Meike W Vernooij
Journal:  Stroke       Date:  2014-05-29       Impact factor: 7.914

8.  Mutation in the HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome.

Authors:  Fatih Bayrakli; Hatice Balaban; Mustafa Gurelik; Sami Hizmetli; Suat Topaktas
Journal:  Turk Neurosurg       Date:  2014       Impact factor: 1.003

Review 9.  Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.

Authors:  Y Yamamoto; L Craggs; M Baumann; H Kalimo; R N Kalaria
Journal:  Neuropathol Appl Neurobiol       Date:  2011-02       Impact factor: 8.090

10.  Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling.

Authors:  Nathalie Beaufort; Eva Scharrer; Elisabeth Kremmer; Vanda Lux; Michael Ehrmann; Robert Huber; Henry Houlden; David Werring; Christof Haffner; Martin Dichgans
Journal:  Proc Natl Acad Sci U S A       Date:  2014-11-04       Impact factor: 11.205
  10 in total
  2 in total

Review 1.  HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.

Authors:  Masahiro Uemura; Hiroaki Nozaki; Taisuke Kato; Akihide Koyama; Naoko Sakai; Shoichiro Ando; Masato Kanazawa; Nozomi Hishikawa; Yoshinori Nishimoto; Kiran Polavarapu; Atchayaram Nalini; Akira Hanazono; Daisuke Kuzume; Akihiro Shindo; Mohammad El-Ghanem; Arata Abe; Aki Sato; Mari Yoshida; Takeshi Ikeuchi; Ikuko Mizuta; Toshiki Mizuno; Osamu Onodera
Journal:  Front Neurol       Date:  2020-07-03       Impact factor: 4.003

Review 2.  Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.

Authors:  Hui Zhou; Bin Jiao; Ziyu Ouyang; Qihui Wu; Lu Shen; Liangjuan Fang
Journal:  Mol Genet Genomic Med       Date:  2022-08-10       Impact factor: 2.473
  2 in total

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