Literature DB >> 22900900

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

Xiao-Ling Wang, Chuan-Fen Li, Hong-Wei Guo, Bing-Zhen Cao.   

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Year:  2012        PMID： 22900900      PMCID： PMC6493480          DOI： 10.1111/j.1755-5949.2012.00373.x

Source DB:  PubMed          Journal:  CNS Neurosci Ther        ISSN： 1755-5930            Impact factor:   5.243


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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 causes CARASIL without alopecia.

Authors:  Y Nishimoto; M Shibata; M Nihonmatsu; H Nozaki; A Shiga; A Shirata; K Yamane; A Kosakai; K Takahashi; M Nishizawa; O Onodera; N Suzuki
Journal:  Neurology       Date:  2011-04-12       Impact factor: 9.910

Review 3.  [Molecular pathogenesis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy].

Authors:  Atsushi Shiga; Hiroaki Nozaki; Masatoyo Nishizawa; Osamu Onodera
Journal:  Brain Nerve       Date:  2010-06

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

Review 5.  The structural basis of mode of activation and functional diversity: a case study with HtrA family of serine proteases.

Authors:  Nitu Singh; Raja R Kuppili; Kakoli Bose
Journal:  Arch Biochem Biophys       Date:  2011-10-18       Impact factor: 4.013

6.  A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): clinical and radiological features.

Authors:  D M Zheng; F F Xu; Y Gao; H Zhang; S C Han; G R Bi
Journal:  J Clin Neurosci       Date:  2009-03-18       Impact factor: 1.961

7.  Familial unusual encephalopathy of Binswanger's type without hypertension.

Authors:  S Maeda; H Nakayama; K Isaka; Y Aihara; S Nemoto
Journal:  Folia Psychiatr Neurol Jpn       Date:  1976

8.  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

Review 9.  Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome).

Authors:  Kunimasa Arima; Sohei Yanagawa; Nobuo Ito; Shu-ichi Ikeda
Journal:  Neuropathology       Date:  2003-12       Impact factor: 1.906

Review 10.  Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension.

Authors:  T Fukutake; K Hirayama
Journal:  Eur Neurol       Date:  1995       Impact factor: 1.710
  10 in total
  10 in total

1.  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

2.  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

3.  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

4.  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

Review 5.  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

6.  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 7.  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

8.  HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF-β/Smad signaling pathway in CARASIL model mice.

Authors:  Li Chuanfen; Wang Xiaoling; Jing Wen; Cao Bingzhen; Wang Min
Journal:  Brain Behav       Date:  2022-07-15       Impact factor: 3.405

Review 9.  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

10.  Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man.

Authors:  Olusegun John Oluwole; Heba Ibrahim; Debora Garozzo; Karim Ben Hamouda; Saly Ismail Mostafa Hassan; Ahmed Metwaly Hegazy; Abdul Karim Msaddi
Journal:  Neurol Genet       Date:  2019-12-26
  10 in total

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