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Academic Journal

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

  • Authors : Cao Y; Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.; Zhang DD

Subjects: CADASIL*/CADASIL*/CADASIL*/genetics ; CADASIL*/CADASIL*/CADASIL*/diagnostic imaging ; CADASIL*/CADASIL*/CADASIL*/pathology

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 13; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 13.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.

  • Authors : Gravesteijn G; Department of Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.; Dauwerse JG

Subjects: CADASIL/CADASIL/CADASIL/*genetics ; Cysteine/Cysteine/Cysteine/*genetics ; Protein Aggregation, Pathological/Protein Aggregation, Pathological/Protein Aggregation, Pathological/*genetics

  • Source: Human molecular genetics [Hum Mol Genet] 2020 Jul 21; Vol. 29 (11), pp. 1853-1863.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations.

  • Authors : Kim H; Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Lim YM

Subjects: CADASIL/CADASIL/CADASIL/*pathology ; Cysteine/Cysteine/Cysteine/*genetics ; Receptor, Notch3/Receptor, Notch3/Receptor, Notch3/*genetics

  • Source: PloS one [PLoS One] 2020 Jun 18; Vol. 15 (6), pp. e0234797. Date of Electronic Publication: 2020 Jun 18 (Print Publication: 2020).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population.

  • Authors : Lee YC; From the Department of Neurology (Y.-C. Lee, C.-P.C., S.-J.W., Y.-C. Liao), Taipei Veterans General Hospital; Department of Neurology (Y.-C. Lee, C.-P.C., M.-H.C., S.-J.W., Y.-C. Liao) and Brain Research Center (Y.-C. Lee, S.-J.W., Y.-C. Liao), National Yang-Ming, University School of Medicine, Taipei

Subjects: Cysteine/Cysteine/Cysteine/*genetics ; Receptor, Notch3/Receptor, Notch3/Receptor, Notch3/*genetics ; Stroke/Stroke/Stroke/*epidemiology

  • Source: Neurology [Neurology] 2020 Jan 07; Vol. 94 (1), pp. e87-e96. Date of Electronic Publication: 2019 Dec 02.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.

  • Authors : Muiño E; Stroke Pharmacogenomics and Genetics, Fundació Docència i Recerca Mútua Terrassa, Hospital Mútua de Terrassa, 08221 Terrassa, Spain. .; Gallego-Fabrega C

Subjects: Mutation, Missense*; CADASIL/CADASIL/CADASIL/*genetics ; Cysteine/Cysteine/Cysteine/*genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2017 Sep 13; Vol. 18 (9). Date of Electronic Publication: 2017 Sep 13.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.

  • Authors : Mukai M; Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.; Mizuta I

Subjects: Arginine/Arginine/Arginine/*genetics ; CADASIL/CADASIL/CADASIL/*genetics ; Cysteine/Cysteine/Cysteine/*genetics

  • Source: Journal of the neurological sciences [J Neurol Sci] 2018 Nov 15; Vol. 394, pp. 38-40. Date of Electronic Publication: 2018 Aug 29.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Top-NOTCH3 Variants in the Population at Large.

  • Authors : Kalaria RN; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom (R.N.K.).; Kittner SJ

Subjects: Cysteine* ; Stroke*; Aged

  • Source: Stroke [Stroke] 2020 Dec; Vol. 51 (12), pp. 3482-3484. Date of Electronic Publication: 2020 Nov 09.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0235266 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Genotype-phenotype correlations of cysteine replacement in CADASIL.

  • Authors : Matsushima T; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.; Conedera S

Subjects: Genetic Association Studies* ; Genotype* ; Mutation*

  • Source: Neurobiology of aging [Neurobiol Aging] 2017 Feb; Vol. 50, pp. 169.e7-169.e14. Date of Electronic Publication: 2016 Nov 02.Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

  • Authors : Rutten JW; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Dauwerse HG

Subjects: CADASIL/CADASIL/CADASIL/*genetics ; Cysteine/Cysteine/Cysteine/*genetics ; Exons/Exons/Exons/*genetics

  • Source: Brain : a journal of neurology [Brain] 2016 Apr; Vol. 139 (Pt 4), pp. 1123-35. Date of Electronic Publication: 2016 Feb 19.Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.

  • Authors : Wollenweber FA; From the Institute for Stroke and Dementia Research, Klinikum der Universität München (F.A.W., P.H., A.B.-K., R.M., C.O., M.D., C.H., M.D.), Institute for Pathology (S.M.), and Center for Neuropathology and Prion Research (A.G.), Ludwig-Maximilians-University, Munich, Germany; Department of Neurology, Klinikum Stuttgart, Stuttgart, Germany (H.B.)

Subjects: Mutation*; CADASIL/CADASIL/CADASIL/*genetics ; Cysteine/Cysteine/Cysteine/*genetics

  • Source: Stroke [Stroke] 2015 Mar; Vol. 46 (3), pp. 786-92. Date of Electronic Publication: 2015 Jan 20.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0235266 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  23 results for ""Receptor, Notch3""