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RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance

Qian Zhang, Yaping Liu, Dong Zhang, Rong Wang, Yan Zhang, Shuo Wang, Lanbing Yu, Chaoxia Lu, Fang Liu, Jian Zhou, Xue Zhang, and Jizong Zhao

(moyamoya disease 6) had been reported as susceptibility or causative genes in MMD or MMS patients and were selected as target genes. A panel was designed to identify disease-causing mutations in the exons and exonintron boundaries (± 50 bp) of these genes. The descriptions of these genes ( RNF213 ACTA2 , BRCC3 , and GUCY1A3 ) in this paper are primarily based on the longest isoforms (NM_001256071, NM_001141945, NM_024332, and NM_000856, respectively). Exon sequencing was conducted according to the manufacturer's protocol. The details are shown in the Supplemental

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Genetic basis of Parkinson disease

Georgia Xiromerisiou, Efthimios Dardiotis, Vaïa Tsimourtou, Persa Maria Kountra, Konstantinos N. Paterakis, Eftychia Z. Kapsalaki, Kostas N. Fountas, and Georgios M. Hadjigeorgiou

factors. Genetic variations may be susceptibility factors for disease that also affect penetrance, age at onset, severity, the appearance of certain clinical features, and also the disease progression. In this paper, a concise summary of the main genes responsible for monogenic forms of PD ( Table 1 ), and some of the common genetic variants that may play a role in the disease, is provided. TABLE 1: Genetic loci and genes associated with monogenic forms of PD * Locus Gene Inheritance & Comments OMIM No. PARK1 SNCA AD; 1st PD gene

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Variation in the BRCA2 gene in a child with medulloblastoma and a family history of breast cancer

Case report

Fatih Bayrakli, Bekir Akgun, Burcak Soylemez, Metin Kaplan, and Mustafa Gurelik

medulloblastoma brain tumors. 3 , 4 The BRCA2 gene functions as an important tumor suppressor, and its loss confers susceptibility to breast, ovarian, and brain tumors. Biallelic hypomorphic mutations of BRCA2 are also responsible for some cases of Fanconi anemia and these individuals exhibit a predisposition to medulloblastoma brain tumors. 1 , 4 , 6 , 7 A family from Eastern Turkey with a history of cancer based on radiological and medical records was identified and referred to our department. A 13-year-old male patient who had medulloblastoma was part of this family

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Role of histocompatibility antigen gene and proto-oncogene expressions in intracerebral tumorigenicity of mouse neuroblastoma

Toshiki Yamasaki, George Klein, Hans-Gustaf Ljunggren, Klas Kärre, Kouzo Moritake, Jonathan T. Paine, and Haruhiko Kikuchi

modulation and relationship between N- myc and HLA class I RNA steady-state levels in human neuroblastoma cells. Cancer Res 50: 7532–7536, 1990 19. Harel-Bellan A , Quillet A , Marchiol C , et al : Natural killer susceptibility of human cells may be regulated by genes in the HLA region on chromosome 6. Proc Natl Acad Sci USA 83 : 5688 – 5692 , 1986 Harel-Bellan A, Quillet A, Marchiol C, et al: Natural killer susceptibility of human cells may be regulated by genes in the HLA region on chromosome 6. Proc Natl Acad Sci USA

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Presence of matrix metalloproteinase–2 and tissue inhibitor matrix metalloproteinase–2 gene polymorphisms and immunohistochemical expressions in intracranial meningiomas

Laboratory investigation

İlker Coven, Ozge Ozer, Ozlem Ozen, Feride İffet Şahin, and Nur Altinors

19 : 2C 1589 – 1592 , 1999 8 Kumar R , Malik N , Tungaria A , Kawal P : Matrix metalloproteinase-2 gene polymorphism is not associated with increased glioblastoma multiforme susceptibility: an Indian institutional experience . Neurol India 59 : 236 – 240 , 2011 10.4103/0028-3886.79131 9 Maes L , Lippens E , Kalala JPO , de Ridder L : The hTERT-protein and Ki-67 labelling index in recurrent and non-recurrent meningiomas . Cell Prolif 38 : 3 – 12 , 2005 10.1111/j.1365-2184.2005.00325.x 10 Miyake H , Hara I , Gohji K

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Association of apolipoprotein E gene polymorphism with small-vessel lesions and stroke type in moyamoya disease: a preliminary study

Dong-Kyu Jang, Pil Woo Huh, and Kwan-Sung Lee

hemorrhagic onset type in patients with MMD. 20 Kikuta et al. 12 identified the presence of multiple microbleeds as a predictor of subsequent hemorrhages in patients with MMD. To date, apolipoprotein E ( APOE) gene polymorphisms have been reported to be associated with lobar microbleeds, vascular Ab deposition, loss of smooth muscle, and vessel wall thickening. 19 , 25 , 28 In contrast to cerebral amyloid angiopathy, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and Alzheimer’s disease, the associations between APOE gene

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ADAMTS genes and the risk of cerebral aneurysm

Astrid Arning, Astrid Jeibmann, Stephan Köhnemann, Benjamin Brokinkel, Christian Ewelt, Klaus Berger, Jürgen Wellmann, Ulrike Nowak-Göttl, Walter Stummer, Monika Stoll, and Markus Holling

CA formation and rupture mechanisms. Extensive genetic association studies are urgently needed to elucidate the molecular pathogenesis of CAs. 46 In recent years, candidate gene association studies have been the most common approach to identify susceptibility genes for complex diseases such as CA. However, our ability to identify relevant candidates is generally restricted by our understanding of disease pathophysiology, which in many cases is limited. For CA, several physiological pathways, including inflammation, 5 , 15 , 33 , 36 disruption of the

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Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1

Ji Hoon Phi, Jung Won Choi, Moon-Woo Seong, Tackeun Kim, Youn Joo Moon, Joongyub Lee, Eun Jung Koh, Seul Ki Ryu, Tae Hee Kang, Jae Seung Bang, Chang Wan Oh, Sung Sup Park, Ji Yeoun Lee, Kyu-Chang Wang, and Seung-Ki Kim

aggressive phenotypes of this disease with earlier onsets and cerebral infarctions. 9 Interestingly, the RNF213 c.14576G>A variant is also associated with non-moyamoya cerebrovascular disease. 10 , 11 Therefore, it is possible that RNF213 functions as a common susceptibility gene not only for moyamoya disease, in which the effect of the genetic variation is most powerful, but also for other vascular diseases. We hypothesized that MMS develops in some susceptible individuals in NF-1 populations and that the RNF213 c.14576G>A variant might be a susceptibility gene

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A review of the pathogenesis of ankylosing spondylitis

Elias Dakwar, Jaypal Reddy, Fernando L. Vale, and Juan S. Uribe

-B allele of the MHC Class I molecules and is the most established genetic susceptibility marker for AS. The genes of the HLA locus are located on the short arm of chromosome 6. The HLA-B27 gene designates a family of at least 31 closely related alleles, known as subtypes. 24 , 26 Not all the subtypes are associated with AS; HLA-B*2705 is found in all populations, as is the parent HLA-B27 molecule. Most of the subtypes are a result of one or more amino acid substitutions mostly resulting from changes in exons 2 and 3 which encode the alpha-1 and alpha-2 domains of the

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Toxicity studies of retroviral-mediated gene transfer for the treatment of brain tumors

Zvi Ram, Kenneth W. Culver, Stuart Walbridge, Joseph A. Frank, R. Michael Blaese, and Edward H. Oldfield

T he transfer of drug-susceptibility genes by retroviral vectors into malignant tumors has recently been proposed as a novel approach for the treatment of cancer. 2, 6, 7, 10–13 The potential of the herpes simplex virus thymidine kinase (HSVtk) gene to confer sensitivity to the antiviral drug ganciclovir and subsequently to lead to tumor regression has been shown in various animal tumor models. 7, 11 We have recently demonstrated the efficacy of this approach in eradicating brain tumors by direct intratumoral injection of HSVtk vector-producer cells and