The Experts below are selected from a list of 5517 Experts worldwide ranked by ideXlab platform
Margaret A Tucker - One of the best experts on this subject based on the ideXlab platform.
-
further evidence for a locus for cutaneous malignant melanoma dysplastic nevus cmm dn on Chromosome 1p and evidence for genetic heterogeneity
American Journal of Human Genetics, 1993Co-Authors: Alisa M Goldstein, Nicholas C Dracopoli, E C Ho, Mary C Fraser, Kathleen S Kearns, Sherri J Bale, O W Mcbride, Wallace H Clark, Margaret A TuckerAbstract:Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to Chromosome 1p remains controversial. We examined the relationship between CMM/DN and markers D1S47, PND, and D1S160 on seven new families (set B) plus updated versions of six previously reported families (set A). Three linkage analyses were performed: (1) CMM alone--all individuals without confirmed melanoma or borderline lesions were considered unaffected (model I); (2) CMM/DN with variable age at onset and sporadics (model II); and (3) CMM/DN using the model of Bale et al. (model III). For CMM alone and D1S47, Zmax = 3.12 at theta = .10. For D1S160 and CMM alone, Zmax = 1.76 at theta = .10. PND showed no evidence for linkage to CMM alone. Models II and III showed strong evidence for linkage to D1S47, D1S160, and PND in the set A pedigrees but not in the set B families. We tested for homogeneity of CMM/DN (model II) by splitting families into two groups on the basis of (1) the proportion of CMM/DN cases and (2) the occurrence of immune-related tumors. In group 1 there was significant evidence of heterogeneity with both D1S47 and D1S160, and in group 2 there was significant evidence of heterogeneity with D1S160. Thus, diagnostic, clinical, and genetic heterogeneity are the likely reasons that previous studies have failed to confirm linkage of CMM/DN to Chromosome 1p. The results showed significant evidence for a CMM locus linked to D1S47, as well as significant evidence for heterogeneity with only a subset of the families appearing linked to Chromosome 1p.
-
Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on Chromosome 1p, and evidence for genetic heterogeneity.
American Journal of Human Genetics, 1993Co-Authors: Alisa M Goldstein, Nicholas C Dracopoli, E C Ho, Mary C Fraser, Kathleen S Kearns, Sherri J Bale, O W Mcbride, Wallace H Clark, Margaret A TuckerAbstract:Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to Chromosome 1p remains controversial. The authors examined the relationship between CMM/DN and markers D1S47, PND, and D1S160 on seven new families (set B) plus updated versions of six previously reported families (set A). Three linkage analyses were performed: (1) CMM alone - all individuals without confirmed melanoma or borderline lesions were considered unaffected (model I); (2) CMM/DN with variable age at onset and sporadics (model II); and (3) CMM/DN using the model of Bale et al. (model III). For CMM alone and D1S47, Z[sub max] = 3.12 at [theta] = .10. For D1S160 and CMM alone, Z[sub max] = 1.76 at [theta] = .10. PND showed no evidence for linkage to CMM alone. Models II and III showed strong evidence for linkage to D1S47, D1S160, and PND in the set A pedigrees but not in the set B families. The authors tested for homogeneity of CMM/DN (model II) by splitting families into two groups on the basis of (1) the proportion of CMM/DN cases and (2) the occurrence of immune-related tumors. In group 1 there was significant evidence of heterogeneity with both D1S47 and D1S160, and in groupmore » 2 there was significant evidence of heterogeneity with D1S160. Thus, diagnostic, clinical, and genetic heterogeneity are the likely reasons that previous studies have failed to confirm linkage of CMM/DN to Chromosome 1p. The results showed significant evidence for a CMM locus linked to D1S47, as well as significant evidence for heterogeneity with only a subset of the families appearing linked to Chromosome 1p. 38 refs., 1 fig., 5 tabs.« less
Reiner Benecke - One of the best experts on this subject based on the ideXlab platform.
-
a gene for autosomal dominant paroxysmal choreoathetosis spasticity cse maps to the vicinity of a potassium channel gene cluster on Chromosome 1p probably within 2 cm between d1s443 and d1s197
Genomics, 1996Co-Authors: Georg Auburger, Tim Ratzlaff, Astrid Lunkes, H W Nelles, Barbara Leube, F Binkofski, H Kugel, W Heindel, R J Seitz, Reiner BeneckeAbstract:Abstract Paroxysmal choreoathetosis/episodic ataxia is a heterogeneous neurological syndrome usually inherited in an autosomal dominant manner. Recently, the association of one form of episodic ataxia (defined by the presence of additional myokymia) with point mutations in the potassium channel gene KCNA1 was described. This gene locus on Chromosome 12p (HGMW-approved symbol CSE) was excluded in a large pedigree with paroxysmal choreoathetosis and additional spasticity. Linkage to Chromosome 1p where a cluster of related potassium channel genes is located, was demonstrated. Genotyping of 18 affected and 11 unaffected family members with 28 microsatellites over a region of 45 cM proved linkage with a lod score of 7.2 at a recombination fraction θ = 0 to D1S451/421/447/GGAT4C11. Crossing-over events in 9 patients and 4 unaffected offspring suggested a probable assignment of the gene to a region of 2 cM between D1S443 and D1S197.
-
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on Chromosome 1p, probably within 2 cM between D1S443 and D1S197
Genomics, 1996Co-Authors: Georg Auburger, Tim Ratzlaff, Astrid Lunkes, H W Nelles, Barbara Leube, F Binkofski, H Kugel, W Heindel, R J Seitz, Reiner BeneckeAbstract:Abstract Paroxysmal choreoathetosis/episodic ataxia is a heterogeneous neurological syndrome usually inherited in an autosomal dominant manner. Recently, the association of one form of episodic ataxia (defined by the presence of additional myokymia) with point mutations in the potassium channel gene KCNA1 was described. This gene locus on Chromosome 12p (HGMW-approved symbol CSE) was excluded in a large pedigree with paroxysmal choreoathetosis and additional spasticity. Linkage to Chromosome 1p where a cluster of related potassium channel genes is located, was demonstrated. Genotyping of 18 affected and 11 unaffected family members with 28 microsatellites over a region of 45 cM proved linkage with a lod score of 7.2 at a recombination fraction θ = 0 to D1S451/421/447/GGAT4C11. Crossing-over events in 9 patients and 4 unaffected offspring suggested a probable assignment of the gene to a region of 2 cM between D1S443 and D1S197.
Jie Tian - One of the best experts on this subject based on the ideXlab platform.
-
non invasive genotype prediction of Chromosome 1p 19q co deletion by development and validation of an mri based radiomics signature in lower grade gliomas
Journal of Neuro-oncology, 2018Co-Authors: Yali Zang, Shuaitong Zhang, Dongsheng Gu, Mu Zhou, Olivier Gevaert, Chao Li, Hongyan Chen, Jiang Du, Di Dong, Jie TianAbstract:To perform radiomics analysis for non-invasively predicting Chromosome 1p/19q co-deletion in World Health Organization grade II and III (lower-grade) gliomas. This retrospective study included 277 patients histopathologically diagnosed with lower-grade glioma. Clinical parameters were recorded for each patient. We performed a radiomics analysis by extracting 647 MRI-based features and applied the random forest algorithm to generate a radiomics signature for predicting 1p/19q co-deletion in the training cohort (n = 184). The clinical model consisted of pertinent clinical factors, and was built using a logistic regression algorithm. A combined model, incorporating both the radiomics signature and related clinical factors, was also constructed. The receiver operating characteristics curve was used to evaluate the predictive performance. We further validated the predictability of the three developed models using a time-independent validation cohort (n = 93). The radiomics signature was constructed as an independent predictor for differentiating 1p/19q co-deletion genotypes, which demonstrated superior performance on both the training and validation cohorts with areas under curve (AUCs) of 0.887 and 0.760, respectively. These results outperformed the clinical model (AUCs of 0.580 and 0.627 on training and validation cohorts). The AUCs of the combined model were 0.885 and 0.753 on training and validation cohorts, respectively, which indicated that clinical factors did not present additional improvement for the prediction. Our study highlighted that an MRI-based radiomics signature can effectively identify the 1p/19q co-deletion in histopathologically diagnosed lower-grade gliomas, thereby offering the potential to facilitate non-invasive molecular subtype prediction of gliomas.
-
preoperative and non invasive prediction of Chromosome arm 1p 19q codeletion in oligodendroglial tumors using mri based radiomics
Journal of Clinical Oncology, 2018Co-Authors: Dongsheng Gu, Jie TianAbstract:2049Background: Oligodendroglial tumor (OT) is a main subtype of gliomas, carrying poor prognosis. Fortunately, part of OT patients with Chromosome 1p/19q codeletion show favorable response to chem...
-
radiomics method to predict loss of heterozygosity on Chromosome 1p 19q of oligodendroglial tumor
Journal of Clinical Oncology, 2017Co-Authors: Jie TianAbstract:2043Background: Oligodendroglial tumor (OT) is one of the main types of gliomas, which is incurable in current situation. As a tumor-specific genetic alteration of OTs, loss of heterozygosity (LOH) on Chromosome 1p/19q indicates a preferable response to chemo/radiotherapy and a better survial, which could be used as a key molecular signature for personalized treatment decision making. However, 1p/19q LOH status is now commonly obtained by fluorescence in situ hybridization after the tumor resection, which is highly likely to lead functin deficit with tumor locating on eloquent area. Thus, a noninvasive predicition on 1p/19q LOH is required. Here, we used a "Radiomics" method to achieve the prediction based on magnetic resonance imaging in this study. Methods: A cohort of 113 OT patients was collected from Beijing Tiantan Hospital. 593 three-dimensional imaging features were extracted on T2-weighted images including textural and non-textural features. We used "minimum redundancy maximum relevance" and "ite...
Alisa M Goldstein - One of the best experts on this subject based on the ideXlab platform.
-
further evidence for a locus for cutaneous malignant melanoma dysplastic nevus cmm dn on Chromosome 1p and evidence for genetic heterogeneity
American Journal of Human Genetics, 1993Co-Authors: Alisa M Goldstein, Nicholas C Dracopoli, E C Ho, Mary C Fraser, Kathleen S Kearns, Sherri J Bale, O W Mcbride, Wallace H Clark, Margaret A TuckerAbstract:Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to Chromosome 1p remains controversial. We examined the relationship between CMM/DN and markers D1S47, PND, and D1S160 on seven new families (set B) plus updated versions of six previously reported families (set A). Three linkage analyses were performed: (1) CMM alone--all individuals without confirmed melanoma or borderline lesions were considered unaffected (model I); (2) CMM/DN with variable age at onset and sporadics (model II); and (3) CMM/DN using the model of Bale et al. (model III). For CMM alone and D1S47, Zmax = 3.12 at theta = .10. For D1S160 and CMM alone, Zmax = 1.76 at theta = .10. PND showed no evidence for linkage to CMM alone. Models II and III showed strong evidence for linkage to D1S47, D1S160, and PND in the set A pedigrees but not in the set B families. We tested for homogeneity of CMM/DN (model II) by splitting families into two groups on the basis of (1) the proportion of CMM/DN cases and (2) the occurrence of immune-related tumors. In group 1 there was significant evidence of heterogeneity with both D1S47 and D1S160, and in group 2 there was significant evidence of heterogeneity with D1S160. Thus, diagnostic, clinical, and genetic heterogeneity are the likely reasons that previous studies have failed to confirm linkage of CMM/DN to Chromosome 1p. The results showed significant evidence for a CMM locus linked to D1S47, as well as significant evidence for heterogeneity with only a subset of the families appearing linked to Chromosome 1p.
-
Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on Chromosome 1p, and evidence for genetic heterogeneity.
American Journal of Human Genetics, 1993Co-Authors: Alisa M Goldstein, Nicholas C Dracopoli, E C Ho, Mary C Fraser, Kathleen S Kearns, Sherri J Bale, O W Mcbride, Wallace H Clark, Margaret A TuckerAbstract:Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to Chromosome 1p remains controversial. The authors examined the relationship between CMM/DN and markers D1S47, PND, and D1S160 on seven new families (set B) plus updated versions of six previously reported families (set A). Three linkage analyses were performed: (1) CMM alone - all individuals without confirmed melanoma or borderline lesions were considered unaffected (model I); (2) CMM/DN with variable age at onset and sporadics (model II); and (3) CMM/DN using the model of Bale et al. (model III). For CMM alone and D1S47, Z[sub max] = 3.12 at [theta] = .10. For D1S160 and CMM alone, Z[sub max] = 1.76 at [theta] = .10. PND showed no evidence for linkage to CMM alone. Models II and III showed strong evidence for linkage to D1S47, D1S160, and PND in the set A pedigrees but not in the set B families. The authors tested for homogeneity of CMM/DN (model II) by splitting families into two groups on the basis of (1) the proportion of CMM/DN cases and (2) the occurrence of immune-related tumors. In group 1 there was significant evidence of heterogeneity with both D1S47 and D1S160, and in groupmore » 2 there was significant evidence of heterogeneity with D1S160. Thus, diagnostic, clinical, and genetic heterogeneity are the likely reasons that previous studies have failed to confirm linkage of CMM/DN to Chromosome 1p. The results showed significant evidence for a CMM locus linked to D1S47, as well as significant evidence for heterogeneity with only a subset of the families appearing linked to Chromosome 1p. 38 refs., 1 fig., 5 tabs.« less
Georg Auburger - One of the best experts on this subject based on the ideXlab platform.
-
a gene for autosomal dominant paroxysmal choreoathetosis spasticity cse maps to the vicinity of a potassium channel gene cluster on Chromosome 1p probably within 2 cm between d1s443 and d1s197
Genomics, 1996Co-Authors: Georg Auburger, Tim Ratzlaff, Astrid Lunkes, H W Nelles, Barbara Leube, F Binkofski, H Kugel, W Heindel, R J Seitz, Reiner BeneckeAbstract:Abstract Paroxysmal choreoathetosis/episodic ataxia is a heterogeneous neurological syndrome usually inherited in an autosomal dominant manner. Recently, the association of one form of episodic ataxia (defined by the presence of additional myokymia) with point mutations in the potassium channel gene KCNA1 was described. This gene locus on Chromosome 12p (HGMW-approved symbol CSE) was excluded in a large pedigree with paroxysmal choreoathetosis and additional spasticity. Linkage to Chromosome 1p where a cluster of related potassium channel genes is located, was demonstrated. Genotyping of 18 affected and 11 unaffected family members with 28 microsatellites over a region of 45 cM proved linkage with a lod score of 7.2 at a recombination fraction θ = 0 to D1S451/421/447/GGAT4C11. Crossing-over events in 9 patients and 4 unaffected offspring suggested a probable assignment of the gene to a region of 2 cM between D1S443 and D1S197.
-
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on Chromosome 1p, probably within 2 cM between D1S443 and D1S197
Genomics, 1996Co-Authors: Georg Auburger, Tim Ratzlaff, Astrid Lunkes, H W Nelles, Barbara Leube, F Binkofski, H Kugel, W Heindel, R J Seitz, Reiner BeneckeAbstract:Abstract Paroxysmal choreoathetosis/episodic ataxia is a heterogeneous neurological syndrome usually inherited in an autosomal dominant manner. Recently, the association of one form of episodic ataxia (defined by the presence of additional myokymia) with point mutations in the potassium channel gene KCNA1 was described. This gene locus on Chromosome 12p (HGMW-approved symbol CSE) was excluded in a large pedigree with paroxysmal choreoathetosis and additional spasticity. Linkage to Chromosome 1p where a cluster of related potassium channel genes is located, was demonstrated. Genotyping of 18 affected and 11 unaffected family members with 28 microsatellites over a region of 45 cM proved linkage with a lod score of 7.2 at a recombination fraction θ = 0 to D1S451/421/447/GGAT4C11. Crossing-over events in 9 patients and 4 unaffected offspring suggested a probable assignment of the gene to a region of 2 cM between D1S443 and D1S197.