Institution
Heidelberg University
Education•Heidelberg, Germany•
About: Heidelberg University is a education organization based out in Heidelberg, Germany. It is known for research contribution in the topics: Population & Transplantation. The organization has 62066 authors who have published 119109 publications receiving 4678423 citations. The organization is also known as: Ruprecht-Karls-Universität Heidelberg & University of Heidelberg.
Topics: Population, Transplantation, Galaxy, Cancer, Stars
Papers published on a yearly basis
Papers
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Erasmus University Rotterdam1, Emory University2, Carolinas Healthcare System3, Hackensack University Medical Center4, Harvard University5, Mayo Clinic6, Heidelberg University7, University of Navarra8, University of Barcelona9, University Hospital Heidelberg10, University of Turin11, University of Texas MD Anderson Cancer Center12
TL;DR: Based on data available today, bortezomib and carfilzomib treatment appear to improve complete response, progression-free survival, and overall survival in t(4;14) and del(17/17p), whereas lenalidomide may be associated with improved progression-based survival and progression- free survival int( 4;14), del( 17/17 p), and t(14;16), and gain(1q).
620 citations
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TL;DR: It is shown that the increased production of Aβ results from a cellular mechanism, which differs substantially from that responsible for the production of aβ from wild-type βAPP, and is explained by a competition between α and β-secretase.
Abstract: Several missense mutations causing early-onset Alzheimer's disease (AD) have been described in the gene coding for the beta-amyloid precursor protein (beta APP). A double mutation found in a Swedish family is located before the amyloid beta-peptide (A beta) region of beta APP and results in the increased production and secretion of A beta. Here we show that the increased production of A beta results from a cellular mechanism, which differs substantially from that responsible for the production of A beta from wild-type beta APP. In the latter case, A beta generation requires reinternalization and recycling of beta APP. In the case of the Swedish mutation the N-terminal beta-secretase cleavage of A beta occurs in Golgi-derived vesicles, most likely within secretory vesicles. Therefore, this cleavage occurs in the same compartment as the alpha-secretase cleavage, which normally prevents A beta production, explaining the increased A beta generation by a competition between alpha- and beta-secretase.
620 citations
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TL;DR: The mechanisms and molecular components of unconventional protein secretion are beginning to emerge, including a role for caspase 1 and for the peripheral Golgi protein GRASP, which could function as a plasma membrane tether for membrane compartments during specific stages of development.
Abstract: Most eukaryotic proteins are secreted through the conventional endoplasmic reticulum (ER)-Golgi secretory pathway. However, cytoplasmic, nuclear and signal-peptide-containing proteins have been shown to reach the cell surface by non-conventional transport pathways. The mechanisms and molecular components of unconventional protein secretion are beginning to emerge, including a role for caspase 1 and for the peripheral Golgi protein GRASP, which could function as a plasma membrane tether for membrane compartments during specific stages of development.
619 citations
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TL;DR: It is shown that reproductive factors and BMI are most clearly associated with hormone receptor-positive tumors and suggest that triple-negative or CBP tumors may have distinct etiology.
Abstract: BACKGROUND: Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors. METHODS: We pooled tumor marker and epidemiological risk factor data from 35,568 invasive breast cancer case patients from 34 studies participating in the Breast Cancer Association Consortium. Logistic regression models were used in case-case analyses to estimate associations between epidemiological risk factors and tumor subtypes, and case-control analyses to estimate associations between epidemiological risk factors and the risk of developing specific tumor subtypes in 12 population-based studies. All statistical tests were two-sided. RESULTS: In case-case analyses, of the epidemiological risk factors examined, early age at menarche (≤12 years) was less frequent in case patients with PR(-) than PR(+) tumors (P = .001). Nulliparity (P = 3 × 10(-6)) and increasing age at first birth (P = 2 × 10(-9)) were less frequent in ER(-) than in ER(+) tumors. Obesity (body mass index [BMI] ≥ 30 kg/m(2)) in younger women (≤50 years) was more frequent in ER(-)/PR(-) than in ER(+)/PR(+) tumors (P = 1 × 10(-7)), whereas obesity in older women (>50 years) was less frequent in PR(-) than in PR(+) tumors (P = 6 × 10(-4)). The triple-negative (ER(-)/PR(-)/HER2(-)) or core basal phenotype (CBP; triple-negative and cytokeratins [CK]5/6(+) and/or epidermal growth factor receptor [EGFR](+)) accounted for much of the heterogeneity in parity-related variables and BMI in younger women. Case-control analyses showed that nulliparity, increasing age at first birth, and obesity in younger women showed the expected associations with the risk of ER(+) or PR(+) tumors but not triple-negative (nulliparity vs parity, odds ratio [OR] = 0.94, 95% confidence interval [CI] = 0.75 to 1.19, P = .61; 5-year increase in age at first full-term birth, OR = 0.95, 95% CI = 0.86 to 1.05, P = .34; obesity in younger women, OR = 1.36, 95% CI = 0.95 to 1.94, P = .09) or CBP tumors. CONCLUSIONS: This study shows that reproductive factors and BMI are most clearly associated with hormone receptor-positive tumors and suggest that triple-negative or CBP tumors may have distinct etiology.
619 citations
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TL;DR: The CEP290 mutations represent one of the most frequent causes of LCA identified so far and are localized in a consanguineous LCA-affected family from Quebec and identified a splice defect in a gene encoding a centrosomal protein (CEP290).
Abstract: Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for ∼45% of LCA cases. We localized the genetic defect in a consanguineous LCA-affected family from Quebec and identified a splice defect in a gene encoding a centrosomal protein (CEP290). The defect is caused by an intronic mutation (c.2991+1655A→G) that creates a strong splice-donor site and inserts a cryptic exon in the CEP290 messenger RNA. This mutation was detected in 16 (21%) of 76 unrelated patients with LCA, either homozygously or in combination with a second deleterious mutation on the other allele. CEP290 mutations therefore represent one of the most frequent causes of LCA identified so far.
618 citations
Authors
Showing all 62427 results
Name | H-index | Papers | Citations |
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Nicholas G. Martin | 192 | 1770 | 161952 |
Jing Wang | 184 | 4046 | 202769 |
Chris Sander | 178 | 713 | 233287 |
Kenneth C. Anderson | 178 | 1138 | 126072 |
Zena Werb | 168 | 473 | 122629 |
Marc Weber | 167 | 2716 | 153502 |
Volker Springel | 165 | 746 | 123399 |
Ira Pastan | 160 | 1286 | 110069 |
Wolfgang Wagner | 156 | 2342 | 123391 |
Jovan Milosevic | 152 | 1433 | 106802 |
Hermann Brenner | 151 | 1765 | 145655 |
Robert J. Sternberg | 149 | 1066 | 89193 |
Margaret A. Pericak-Vance | 149 | 826 | 118672 |
Andreas Pfeiffer | 149 | 1756 | 131080 |
Rajesh Kumar | 149 | 4439 | 140830 |