Condition: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy


rs113993969 in HTRA1 gene and Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy PMID 19387015 2009 Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

PMID 24535794 2014 C to T transition at position 1108 (c.1108 C > T) in exon 6, causing stop codon formation (R370X) was seen in the HTRA1 gene in a homozygous state in the CARASIL patient whereas it was heterozygous in other healthy family members.

PMID 21482952 2011 A novel mutation in the HTRA1 gene causes CARASIL without alopecia.

PMID 22900900 2012 A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.

PMID 21115960 2010 A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.

rs113993968 in LOC105378526;HTRA1 gene and Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy PMID 11889251 2002 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.

PMID 19387015 2009 Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

PMID 25772074 2015 A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.

PMID 26063658 2015 Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

PMID 25770224 2015 Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis.

PMID 25957642 2015 A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.

PMID 27164673 2016 Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.