Literature DB >> 21482952

A novel mutation in the HTRA1 gene causes CARASIL without alopecia.

Y Nishimoto1, M Shibata, M Nihonmatsu, H Nozaki, A Shiga, A Shirata, K Yamane, A Kosakai, K Takahashi, M Nishizawa, O Onodera, N Suzuki.   

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Year:  2011        PMID： 21482952     DOI： 10.1212/WNL.0b013e318215281d

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


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  12 in total

1.  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

2.  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

3.  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

4.  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

5.  Protoporphyrins enhance oligomerization and enzymatic activity of HtrA1 serine protease.

Authors:  Hakryul Jo; Victoria Patterson; Sean Stoessel; Chia-Yi Kuan; Josephine Hoh
Journal:  PLoS One       Date:  2014-12-15       Impact factor: 3.240

6.  Heterozygous HTRA1 missense mutation in CADASIL-like family disease.

Authors:  Xiaowei Wu; Changxin Li; Jinming Mao; Ling Li; Yan Liu; Yao Hou
Journal:  Braz J Med Biol Res       Date:  2018-03-15       Impact factor: 2.590

7.  Updates on Prevention of Hemorrhagic and Lacunar Strokes.

Authors:  Hsin-Hsi Tsai; Jong S Kim; Eric Jouvent; M Edip Gurol
Journal:  J Stroke       Date:  2018-05-31       Impact factor: 6.967

Review 8.  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

9.  Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features.

Authors:  Amin Ziaei; Xiaohong Xu; Leila Dehghani; Carine Bonnard; Andreas Zellner; Alvin Yu Jin Ng; Sumanty Tohari; Byrappa Venkatesh; Christof Haffner; Bruno Reversade; Vahid Shaygannejad; Mahmoud A Pouladi
Journal:  Neurol Genet       Date:  2019-07-08

Review 10.  Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.

Authors:  Vo Van Giau; Eva Bagyinszky; Young Chul Youn; Seong Soo A An; Sang Yun Kim
Journal:  Int J Mol Sci       Date:  2019-09-03       Impact factor: 5.923
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