Institution
University of Tübingen
Education•Tübingen, Germany•
About: University of Tübingen is a education organization based out in Tübingen, Germany. It is known for research contribution in the topics: Population & Transplantation. The organization has 40555 authors who have published 84108 publications receiving 3015320 citations. The organization is also known as: Eberhard Karls University & Eberhard-Karls-Universität Tübingen.
Topics: Population, Transplantation, Immune system, Antigen, T cell
Papers published on a yearly basis
Papers
More filters
••
TL;DR: Evidence is provided suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya disease, and a founder haplotype transmitted in 42 families is revealed.
Abstract: Background
Moyamoya disease is an idiopathic vascular disorder of intracranial arteries Its susceptibility locus has been mapped to 17q253 in Japanese families, but the susceptibility gene is unknown
Methodology/Principal Findings
Genome-wide linkage analysis in eight three-generation families with moyamoya disease revealed linkage to 17q253 (P<10-4) Fine mapping demonstrated a 15-Mb disease locus bounded by D17S1806 and rs2280147 We conducted exome analysis of the eight index cases in these families, with results filtered through Ng criteria There was a variant of pN321S in PCMTD1 and pR4810K in RNF213 in the 15-Mb locus of the eight index cases The pN321S variant in PCMTD1 could not be confirmed by the Sanger method Sequencing RNF213 in 42 index cases confirmed pR4810K and revealed it to be the only unregistered variant Genotyping 39 SNPs around RNF213 revealed a founder haplotype transmitted in 42 families Sequencing the 260-kb region covering the founder haplotype in one index case did not show any coding variants except pR4810K A case-control study demonstrated strong association of pR4810K with moyamoya disease in East Asian populations (251 cases and 707 controls) with an odds ratio of 1118 (P = 10−119) Sequencing of RNF213 in East Asian cases revealed additional novel variants: pD4863N, pE4950D, pA5021V, pD5160E, and pE5176G Among Caucasian cases, variants pN3962D, pD4013N, pR4062Q and pP4608S were identified RNF213 encodes a 591-kDa cytosolic protein that possesses two functional domains: a Walker motif and a RING finger domain These exhibit ATPase and ubiquitin ligase activities Although the mutant alleles (pR4810K or pD4013N in the RING domain) did not affect transcription levels or ubiquitination activity, knockdown of RNF213 in zebrafish caused irregular wall formation in trunk arteries and abnormal sprouting vessels
Conclusions/Significance
We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya disease
522 citations
••
Stig E. Bojesen1, Stig E. Bojesen2, Karen A. Pooley3, Sharon E. Johnatty4 +452 more•Institutions (129)
TL;DR: Using the Illumina custom genotyping array iCOGs, SNPs at the TERT locus in breast, ovarian and BRCA1 mutation carrier cancer cases and controls and leukocyte telomere measurements are analyzed to find associations cluster into three independent peaks.
Abstract: TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOG, we analyzed similar to 480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 x 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 x 10(-8)) and BRCA1 mutation carrier (P = 1.1 x 10(-5)) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 x 10(-14)), higher risk of low-malignant-potential ovarian cancer (P = 1.3 x 10(-15)) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 x 10(-12)) and BRCA1 mutation carrier (P = 1.6 x 10-14) breast and invasive ovarian (P = 1.3 x 10(-11)) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.
522 citations
••
TL;DR: The functional characteristics of c-Jun offer a model for the ability of a single molecule to serve as pivotal regulator for death or survival, not only in the response of the cell body to axonal lesions but also following neurodegenerative disorders.
521 citations
••
TL;DR: It is reported that leukemia cells from patients variously express MIC and ULBP molecules on the cell surface with MICA most frequently detected, and determination of sMICA and sMICB levels may be implemented as a prognostic parameter in patients with hematopoietic malignancies.
521 citations
••
TL;DR: Using microarrays, de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation are identified, further link common genes between ASD and intellectual disability.
Abstract: Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. Our findings further link common genes between ASD and intellectual disability.
520 citations
Authors
Showing all 41039 results
Name | H-index | Papers | Citations |
---|---|---|---|
John Q. Trojanowski | 226 | 1467 | 213948 |
Lily Yeh Jan | 162 | 467 | 73655 |
Monique M.B. Breteler | 159 | 546 | 93762 |
Wolfgang Wagner | 156 | 2342 | 123391 |
Thomas Meitinger | 155 | 716 | 108491 |
Hermann Brenner | 151 | 1765 | 145655 |
Amartya Sen | 149 | 689 | 141907 |
Bernhard Schölkopf | 148 | 1092 | 149492 |
Niels Birbaumer | 142 | 835 | 77853 |
Detlef Weigel | 142 | 516 | 84670 |
Peter Lang | 140 | 1136 | 98592 |
Marco Colonna | 139 | 512 | 71166 |
António Amorim | 136 | 1477 | 96519 |
Alexis Brice | 135 | 870 | 83466 |
Elias Campo | 135 | 761 | 85160 |