SI c.505_507delinsTGT ;(p.R169C)

Variant ID: 3-164785256-TCT-ACA

NM_001041.3(SI):c.505_507delinsTGT;(p.R169C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Severe white matter astrocytopathy in CADASIL.

Brain Pathology (Zurich, Switzerland)
Hase, Yoshiki Y; Chen, Aiqing A; Bates, Letitia L LL; Craggs, Lucinda J L LJL; Yamamoto, Yumi Y; Gemmell, Elizabeth E; Oakley, Arthur E AE; Korolchuk, Viktor I VI; Kalaria, Raj N RN
Publication Date: 2018-11

Variant appearance in text: SI: Arg169Cys
PubMed Link: 29757481
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clusterin/Apolipoprotein J immunoreactivity is associated with white matter damage in cerebral small vessel diseases.

Neuropathology And Applied Neurobiology
Craggs, Lucinda L; Taylor, Julie J; Slade, Janet Y JY; Chen, Aiqing A; Hagel, Christian C; Kuhlenbaeumer, Gregor G; Borjesson-Hanson, Anne A; Viitanen, Matti M; Kalimo, Hannu H; Deramecourt, Vincent V; Oakley, Arthur E AE; Kalaria, Raj N RN
Publication Date: 2016-02

Variant appearance in text: SI: R169C
PubMed Link: 25940137
Variant Present in the following documents:
  • NAN-42-194.pdf
View BVdb publication page



CADASIL and CARASIL.

Brain Pathology (Zurich, Switzerland)
Tikka, Saara S; Baumann, Marc M; Siitonen, Maija M; Pasanen, Petra P; Pöyhönen, Minna M; Myllykangas, Liisa L; Viitanen, Matti M; Fukutake, Toshio T; Cognat, Emmanuel E; Joutel, Anne A; Kalimo, Hannu H
Publication Date: 2014-09

Variant appearance in text: SI: Arg169Cys
PubMed Link: 25323668
Variant Present in the following documents:
  • Main text
  • BPA-24-525.pdf
View BVdb publication page



White matter pathology and disconnection in the frontal lobe in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Neuropathology And Applied Neurobiology
Craggs, Lucinda J L LJ; Yamamoto, Yumi Y; Ihara, Masafumi M; Fenwick, Richard R; Burke, Matthew M; Oakley, Arthur E AE; Roeber, Sigrun S; Duering, Marco M; Kretzschmar, Hans H; Kalaria, Raj N RN
Publication Date: 2014-08

Variant appearance in text: SI: Arg169Cys
PubMed Link: 23844775
Variant Present in the following documents:
  • Main text
  • nan0040-0591.pdf
View BVdb publication page



An MRI-histological study of white matter in stroke-free SHRSP.

Journal Of Cerebral Blood Flow And Metabolism : Official Journal Of The International Society Of Cerebral Blood Flow And Metabolism
Brittain, John F JF; McCabe, Christopher C; Khatun, Halima H; Kaushal, Nitika N; Bridges, Leslie R LR; Holmes, William M WM; Barrick, Thomas R TR; Graham, Delyth D; Dominiczak, Anna F AF; Mhairi Macrae, I I; Hainsworth, Atticus H AH
Publication Date: 2013-05

Variant appearance in text: SI: R169C
PubMed Link: 23403376
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuropathological correlates of temporal pole white matter hyperintensities in CADASIL.

Stroke
Yamamoto, Yumi Y; Ihara, Masafumi M; Tham, Carina C; Low, Roger W C RW; Slade, Janet Y JY; Moss, Tim T; Oakley, Arthur E AE; Polvikoski, Tuomo T; Kalaria, Raj N RN
Publication Date: 2009-06

Variant appearance in text: SI: Arg169Cys
PubMed Link: 19359623
Variant Present in the following documents:
  • Main text
View BVdb publication page