Analyzer · Sparsifire

Analyze how specific documents activate the features of the SAE. Select a dataset, a run and a document to begin.

Dataset

SAE Model

Document

Active Features

1544

MIN ACTIVATION

0.0

Details List

#1601 Feature 1601

#902 Feature 902

#1185 Feature 1185

#1719 Feature 1719

#2052 Feature 2052

#154 Feature 154

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#1814 Feature 1814

#1715 Feature 1715

#588 Feature 588

#2150 Feature 2150

#2272 Feature 2272

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#2587 Feature 2587

#479 Feature 479

#2820 Feature 2820

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#2710 Feature 2710

#1970 Feature 1970

#2119 Feature 2119

#755 Feature 755

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#259 Feature 259

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#1962 Feature 1962

#2120 Feature 2120

#2030 Feature 2030

#270 Feature 270

#1227 Feature 1227

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#2313 Feature 2313

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#980 Feature 980

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#2871 Feature 2871

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#2570 Feature 2570

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#1354 Feature 1354

#1255 Feature 1255

#1556 Feature 1556

#1130 Feature 1130

#1712 Feature 1712

#1770 Feature 1770

#1309 Feature 1309

#1792 Metastatic Cancer

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#2658 Feature 2658

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#191 Feature 191

#118 Feature 118

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#2836 Feature 2836

#1328 Feature 1328

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#2316 Feature #2316

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#2832 Feature 2832

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#2169 Feature 2169

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#2185 Feature 2185

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#466 Feature 466

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#1260 Feature 1260

#2723 Feature 2723

#2004 Feature 2004

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#1182 Feature 1182

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#1809 Feature #1809

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#145 Feature 145

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#1847 Feature 1847

#2337 Feature 2337

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#218 Feature 218

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#2603 Instructional/Educational Content

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#913 Feature 913

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#632 Feature 632

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#426 Feature 426

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#1720 Feature 1720

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#876 Feature 876

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#1389 Feature 1389

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#432 Feature 432

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#2700 Feature 2700

#1469 Feature 1469

#1651 Feature 1651

#747 Feature 747

#2935 Feature 2935

#1137 Feature 1137

#172 Feature 172

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#668 Feature 668

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#1923 Feature 1923

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#2297 Feature 2297

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#324 Feature 324

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#2071 Feature 2071

#827 Feature 827

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#2112 Feature 2112

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#474 Surgical Procedures & Gastrointestinal Issues

#2161 Medical/Scientific Discourse with Ethical/Social Implications

#681 Feature 681

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#389 Feature 389

#2656 Feature 2656

#1149 Feature 1149

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#2201 Feature 2201

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#1040 Feature 1040

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#1525 Feature 1525

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#1440 Feature 1440

#1534 Feature 1534

#2019 Feature 2019

#2182 Feature 2182

#1248 Feature 1248

#2010 Feature 2010

#1350 Feature 1350

#3039 Feature 3039

#2007 Developmental Disparities & Intervention

#2168 Feature 2168

#1126 Feature 1126

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#3030 Feature 3030

#387 Feature 387

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#2232 Medical Case Reports & Cancer Research

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#1423 Feature 1423

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#23 Neuronal Circuitry and Cellular Processes

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#1930 Feature 1930

#2187 Feature 2187

#2922 Feature 2922

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#1188 Feature 1188

#2360 Feature 2360

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Document Content

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.
Two pathogenic mitochondrial DNA mutations, a T-to-G substitution (8993T > G) and a T-to-C substitution (8993T > C), at nucleotide 8993 have been reported. We describe 13 pedigrees with mitochondrial DNA mutations at nucleotide 8993; 10 pedigrees with the 8993T > G mutation and three with the 8993T > C mutation. Prenatal diagnosis of the nucleotide 8993 mutations is technically possible. However, there are three major concerns: (i) that there is variation in mutant loads among tissues; (ii) that the mutant load in a tissue may change over time; and (iii) that the genotype-phenotype correlation is not clearly understood. We have used the 13 pedigrees to determine specifically the extent of tissue- and age-related variation of the two mutations at nucleotide 8993 in the mitochondrial DNA. The tissue variation was investigated by analysing two or more different tissues from a total of 18 individuals. The age-related variation of the mutation was investigated by comparing the amount of both mutations in blood taken at birth and at a later age. No substantial tissue variation was found, nor was there any substantial change in the proportion of either mutation over periods of 8-23 years in the four individuals studied. In addition, we noted that two features were remarkably common in families with nucleotide 8993 mutations, namely (i) unexplained infant death (8 cases in 13 pedigrees); and (ii) de novo mutations (5 of the 10 8993T > G pedigrees).

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