| 1. |
- Sliz, E., et al.
(författare)
-
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
-
Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 2. |
- Tabassum, R, et al.
(författare)
-
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
-
Tidskriftsartikel (refereegranskat)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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| 3. |
- Heikinheimo, K, et al.
(författare)
-
The Mutational Profile of Unicystic Ameloblastoma.
- 2018
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Ingår i: Journal of Dental Research. - : Sage Publications. - 0022-0345 .- 1544-0591. ; 98:1, s. 54-60
-
Tidskriftsartikel (refereegranskat)abstract
- BRAF V600E is the most common mutation in conventional ameloblastoma (AM) of the mandible. In contrast, maxillary AMs appear to harbor more frequently RAS, FGFR2, or SMO mutations. Unicystic ameloblastoma (UAM) is considered a less aggressive variant of ameloblastoma, amenable to more conservative treatment, and classified as a distinct entity. The aim of this study was to characterize the mutation profile of UAM ( n = 39) and to compare it to conventional AM ( n = 39). The associations between mutation status and recurrence probability were also analyzed. In the mandible, 94% of UAMs (29/31, including 8/8 luminal, 6/8 intraluminal, and 15/15 mural subtypes) and 74% of AMs (28/38) revealed BRAF V600E mutations. Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM. Of the 3 maxillary UAMs, only 1 revealed a BRAF V600E mutation. Taken together, our findings demonstrate high frequency of activating BRAF V600E mutations in both UAM and AM of the mandible. In maxillary UAMs, the BRAF V600E mutation prevalence appears to be lower as was shown for AM previously. It could therefore be argued that UAM and AM are part of the spectrum of the same disease. AMs without BRAF V600E mutations were associated with an increased rate of local recurrence ( P = 0.0003), which might indicate that routine mutation testing also has an impact on prognosis.
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| 4. |
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| 5. |
- Watanabe, A, et al.
(författare)
-
Gunnar Fant 60 years
- 1979
-
Ingår i: TMH-QPSR. ; 20:2, s. 1-45
-
Tidskriftsartikel (refereegranskat)
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| 6. |
- Blomberg, Mats, et al.
(författare)
-
Speech synthesis and recognition in technical aids
- 1986
-
Ingår i: STL-QPSR. ; 27:4, s. 45-65
-
Tidskriftsartikel (refereegranskat)abstract
- A number of speech-producing technical aids arenowavailable for use by disabled individuals. One system which produces synthetic speech is described and its application in technical aids discussed. These applications inclde a communication aid, a symbol-to-speech system, talking terminals and a daily newspaper. A pattern-matching speech recognition system is also described and its future in the area of technical aids discussed.
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| 7. |
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| 8. |
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| 9. |
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| 10. |
- Arheimer, Berit, et al.
(författare)
-
The IAHS Science for Solutions decade, with Hydrology Engaging Local People IN a Global world (HELPING)
- 2024
-
Ingår i: Hydrological Sciences Journal. - 0262-6667 .- 2150-3435.
-
Tidskriftsartikel (refereegranskat)abstract
- The new scientific decade (2023-2032) of the International Association of Hydrological Sciences (IAHS) aims at searching for sustainable solutions to undesired water conditions - may it be too little, too much or too polluted. Many of the current issues originate from global change, while solutions to problems must embrace local understanding and context. The decade will explore the current water crises by searching for actionable knowledge within three themes: global and local interactions, sustainable solutions and innovative cross-cutting methods. We capitalise on previous IAHS Scientific Decades shaping a trilogy; from Hydrological Predictions (PUB) to Change and Interdisciplinarity (Panta Rhei) to Solutions (HELPING). The vision is to solve fundamental water-related environmental and societal problems by engaging with other disciplines and local stakeholders. The decade endorses mutual learning and co-creation to progress towards UN sustainable development goals. Hence, HELPING is a vehicle for putting science in action, driven by scientists working on local hydrology in coordination with local, regional, and global processes.
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| 11. |
- Bertenstam, J, et al.
(författare)
-
THE WAXHOLM APPLICATION DATABASE
- 1995
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Konferensbidrag (refereegranskat)abstract
- This paper describes an application database collected in Wizard-of-Oz experiments in a spoken dialogue system, WAXHOLM. The system provides information on boat traffic in the Stockholm archipelago. The database consists of utterance-length speech files, their corressonding transcriptions, and log files of the dialogue sessions. In addition to the spontaneous dialogue speech, the material also comprise recordings of phonetically balanced reference sentences uttered by all 66 subjects. In the paper the recording procedure is described as well as some characteristics of the speech data and the dialogue.
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| 12. |
- Blomberg, Mats, et al.
(författare)
-
A device for automatic speech recognition
- 1982
-
Konferensbidrag (refereegranskat)abstract
- This paper is a translation of a paper originally published in the proceedings of the 1982 meeting of "Nordiska akustistka sällskapet" (The Nordic Acoustical Society), pp. 383-386. 2 DESCRIPTION OF THE RECOGNITION SYSTEM
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| 13. |
- Blomberg, Mats, et al.
(författare)
-
An experimental dialog system: WAXHOLM
- 1993
-
Konferensbidrag (refereegranskat)abstract
- Recently we have begun to build the basic tools for a generic speech-dialogue system, WAXHOLM. The main modules, their function and internal communication have been specified. The different components are connected through a computer network. A preliminary version of the system has been tested, using simplified versions of the modules. We will give a general overview of the system and describe some of the components in more detail. Application specific data are collected with the help of Wizard-of-Oz techniques. The dialogue system is used during the data collection and the wizard only replaces the speechrecognition module.
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| 14. |
- Blomberg, Mats, et al.
(författare)
-
Auditory models and isolated word recognition
- 1983
-
Ingår i: STL-QPSR. ; 24:4, s. 1-15
-
Tidskriftsartikel (refereegranskat)abstract
- A straightforward isolated word recognition system has been used to test different auditory models in acoustic front end processing. The models include BARK, PHON and SONE. The PHONTEMP model is based on PHON but also includes temporal forward masking. We also introduce a model, DOMIN, which is intended to measure the dominating frequency at each point along the 'basilar membrane.' All the above models were derived from an FFT-analysis, and the FFT processing is also used as a reference model. One male and one female speaker were used to test the recognition performance of the different models on a difficult vocabulary consisting of 18 Swedish consonants and 9 Swedish vowels. The results indicate that the performance of the models decreases as they become more complex. The overall recognition accuracy of FFT is 97% while it is 87% for SONE. However, the DOMIN model which is sensitive to dominant frequencies (formants) performs very well for vowels.
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| 15. |
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| 16. |
- Blomberg, Mats, et al.
(författare)
-
Auditory models in isolated word recognition
- 1984
-
Konferensbidrag (refereegranskat)abstract
- A straightforward isolated word recognition system has been used to test different auditory models in acoustic front end processing. The models include BARK, PHON and SONE. The PHONTEMP model is based on PHON but also includes temporal forward masking. We also introduce a model, DOMIN, which is intended to measure the dominating frequency at each point along the 'basilar membrane.' All the above models were derived from an FFT-analysis, and the FFT processing is also used as a reference model. One male and one female speaker were used to test the recognition performance of the different models on a difficult vocabulary consisting of 18 Swedish consonants and 9 Swedish vowels. The results indicate that the performance of the models decreases as they become more complex. The overall recognition accuracy of FFT is 97% while it is 87% for SONE. However, the DOMIN model which is sensitive to dominant frequencies (formants) performs very well for vowels.
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| 17. |
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| 18. |
- Blomberg, Mats, et al.
(författare)
-
Creation of unseen triphones from diphones and monophones using a speech production approach
- 1996
-
Konferensbidrag (refereegranskat)abstract
- With limited training data, infrequent triphone models for speech recognition will not be observed in sufficient number. In this report, a speech production approach is used to predict the characteristics of unseen triphones by concatenating diphones and/or monophones in the parametric representation of a formant speech synthesiser. The parameter trajectories are estimated by interpolation between the endpoints of the original units. The spectral states of the created triphone are generated by the speech synthesiser. Evaluation of the proposed technique has been performed using spectral error measurements and recognition candidate rescoring of N-best lists. In both cases, the created triphones are shown to perform better than the shorter units from which they were constructed. 1. INTRODUCTION The triphone unit is the basic phone model in many current phonetic speech recognition systems. The reason for this is that triphones capture the coarticulation effect caused by the immediate pr...
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| 19. |
- Blomberg, Mats, et al.
(författare)
-
Effects of emphasizing transitional or stationary parts of the speech signal in a discrete utterance recognition system
- 1982
-
Konferensbidrag (refereegranskat)abstract
- A pattern matching word recognition system has been modified in order to emphasize the transient parts of speech in the similarity mesure. The technique is to weight the word distances with a normalized spectral change function. A small positive effect is measured. Emphasizing the stationary parts is shown to substantially decrease the performance. Adding the time derivative of the speech parameters to the word patterns improves performance significantly. This is probaly a consequence of an improvement in the description of the transient segments.
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| 20. |
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| 21. |
- Blomberg, Mats, et al.
(författare)
-
Let your voice do the dialing
- 1983
-
Ingår i: Telephony. - 0040-2656 .- 2161-8690. ; , s. 68-74
-
Tidskriftsartikel (refereegranskat)
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| 22. |
- Blomberg, Mats, et al.
(författare)
-
Nonlinear Frequency Warp for Speech Recognition
- 1986
-
Konferensbidrag (refereegranskat)abstract
- A technique of nonlinear frequency warping has been investigated for recognition of Swedish vowels. A frequency warp between two spectra is computed using a standard dynamic programming algorithm. The frequency distance, defined as the area between the obtained warping function and the diagonal, is contributing to the spectral distance. The distance between two spectra is a weighted sum of the warped amplitude distance and the frequency distance. By changing two weights, we get a gradual shift between non-warped amplitude distance, warped amplitude distance, and frequency distance. In recognition experiments on natural and synthetic vowel spectra, a metric combining the frequency and amplitude distances gave better results than using only amplitude or frequency deviation. Analysis of the results of the synthetic vowels show a reduced sensitivity to voice source and pitch variation. For the natural vowels, the recognition improvement is larger for the male and female speakers separately than for the combined groups.
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| 23. |
- Blomberg, Mats, et al.
(författare)
-
Optimizing some parameters of a word recognizer used in car noise
- 1990
-
Ingår i: STL-QPSR. ; 31:4, s. 43-52
-
Tidskriftsartikel (refereegranskat)abstract
- A speaker-dependent word recognition system has been modified to improve the performance in noise. Problems with word detection and noise compensation have been addressed by using a close-talk microphone and a "noise addition" method. The reference templates are recorded in relative silence. The additional environmental noise during the recognition phase is measured and is "added" to the reference templates before using them for template matching. The recognition performance has been tested in moving cars with references recorded in parked cars. Recordings of six male speakers have been used in this report to rest the sensitivity of the recognition system to some essential parameters. The results from six male speakers and a twenty word vocabulary show that adapting the endpoint detection threshold to the noise level is essential for good performance and that noise compensation is imponant at signal-to-noise ratios below 15 dB.
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| 24. |
- Blomberg, Mats, et al.
(författare)
-
Some current projects at KTH related to speech recognition
- 1986
-
Konferensbidrag (refereegranskat)abstract
- Understanding and modelling the human speech understanding process requires knowledge in several domains, from auditory analysis of speech to higher linguistic processes. Integrating this knowledge into a coherent model is not the scope of this paper. Rather we want to present some projects that may add to the understanding of some components that eventually could be built into a knowledge-based speech recognition system. One project is concerned with a framework to formulate and experiment w i t h the earlier levels of speech analysis. Others deal with different kindsof auditory representationsand methods for comparing speech sounds. S t i l l another project studies the p h e t i c and ortbgraphic properties of different European languages.
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| 25. |
- Blomberg, Mats, et al.
(författare)
-
Speech recognition based on a text-to-speech synthesis system
- 1987
-
Konferensbidrag (refereegranskat)abstract
- A major problem in large-vocabulary speech recognition is the collection of reference data and speaker normalization. In this paper we propose the use of synthetic speech as a means of handling this problem. An experimental scheme for such a system will be described.
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| 26. |
- Blomberg, Mats, et al.
(författare)
-
Speech recognition in the Waxholm dialog system
- 1994
-
Konferensbidrag (refereegranskat)abstract
- The speech recognition component in the KTH "Waxholm" dialog system is described. It will handle continuous speech with a vocabulary of about 1000 words. The output of the recogniser is fed to a probabilistic, knowledge-based parser, that contains a context-free grammar compiled into an augmented transition network.
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| 27. |
|
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| 28. |
- Blomberg, Mats, et al.
(författare)
-
Statistical analysis of speech signals
- 1970
-
Ingår i: STL-QPSR. ; 11:4, s. 1-8
-
Tidskriftsartikel (refereegranskat)abstract
- This is a condensed report of a thesis study carried out at the Department of Speech Communication in 1970, The purpose was to determine, for continuous speech, peakfactor, formfactor, long-time average spcctrum of voiced and voiceless sections separately, spectral density at different voice intensity level s r dist r ib~l t iono f the speech-wave amplitude, statistics on pause lengths and long-time average RMS of the speech wave. All tasks have been solved using the CDC computer of the Department.
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| 29. |
|
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| 30. |
- Blomberg, Mats, et al.
(författare)
-
Testing some essential parameters of a word recogniser used in car noise
- 1989
-
Konferensbidrag (refereegranskat)abstract
- A speaker-dependent word recognition system has been modified to improve the performance in noise. Problems with word detection and noise compensation have been addressed by using a close-talk microphone and a "noise addition" method. The reference templates are recorded in relative silence. The additional environmental noise during the recognition phase is measured and is "added" to the reference templates before using them for template matching. The recognition performance has been tested in moving cars with references recorded in parked cars. Recordings of six male speakers have been used in this report to rest the sensitivity of the recognition system to some essential parameters. The results from six male speakers and a twenty word vocabulary show that adapting the endpoint detection threshold to the noise level is essential for good performance and that noise compensation is imponant at signal-to-noise ratios below 15 dB.
|
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| 31. |
- Blomberg, Mats, et al.
(författare)
-
Word recognition using synthesized reference templates
- 1988
-
Konferensbidrag (refereegranskat)abstract
- A major problem in large‐vocabulary speech recognition is the collection of reference data and speaker normalization. In this paper, the use of synthetic speech is proposed as a means of handling this problem. An experimental scheme for such a speech recognition system will be described. A rule‐based speech synthesis procedure is used for generating the reference data. Ten male subjects participated in an experiment using a 26‐word test vocabulary recorded in a normal office room. The subjects were asked to read the words from a list with little instruction except to pronounce each word separately. The synthesis was used to build the references. No adjustments were done to the synthesis in this first stage. All the human speakers served better as reference than the synthesis. Differences between natural and synthetic speech have been analyzed in detail at the segmental level. Methods for updating the synthetic speech parameters from natural speech templates will be described. [This work has been supported by the Swedish Board of Technical Development.]
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| 32. |
- Blomberg, Mats, et al.
(författare)
-
Word recognition using synthesized templates
- 1988
-
Ingår i: STL-QPSR. ; 29:2-3, s. 069-081
-
Tidskriftsartikel (refereegranskat)abstract
- With the ultimate aim of creating a knowledge based speech understanding system, we have set up a conceptual framework named NEBULA. In this paper we briefly describe some of the components of this framework and also report on some experiments where we use a production component for generating reference data for the recognition. The production component in the form of a speech synthesis system will ideally make the collection of training data unnecessary. Preliminary results of an isolated word recognition experiment will be presented and discussed. Several methods of interfacing the production component to the recognition/evaluation component have been pursued.
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| 33. |
- Crosnier, S, et al.
(författare)
-
Speech recogniser sensitivity to the variation of different control parameters in synthetic speech
- 1989
-
Konferensbidrag (refereegranskat)abstract
- Knowledge of a speech recognizer's sensitivity to different speech production parameters can be used to improve the system or to predict its behaviour in a given application. In this report, a speech recognition system has been tested using manipulated synthetic speech. A text-to-speech system was used for producing words with the 9 Swedish long vowels in CVC context. A "normal" production of each word served as reference template for the recognition system. The test set consisted of the same words where the value of one control parameter at a time was changed from its original position. The mel cepstrum distance between the reference and the manipulated word was measured. Modifying the pitch, voice source spectral slope and the first four formant frequencies had large influence on the distance, while varying formant bandwiths resulted in small effects. The relation between individual formants is different to results from experiments using natural listeners. The results indicate that the sensitivity to pitch and voice source spectrum variation will degrade the recognizer's performance in speaker-independent applications and during stress and that some form of normalisation is needed.
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| 34. |
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| 35. |
- Elenius, K, et al.
(författare)
-
Comparing phoneme and feature based speech recognition using artificial neural networks
- 1992
-
Konferensbidrag (refereegranskat)abstract
- An artificial neural network has been trained by the error backpropagation technique to recognise phonemes and words. The speech material was recorded by a male Swedish talker and was labelled by a phonetician. There were 38 output nodes corresponding to Swedish phonemes. The training algorithm was somewhat modified to increase the training speed. Introducing coarticulation information by adding simple recurrency to the net is shown to more effective than expanding the size of the input spectral window. The phoneme recognition network was used with dynamic programming for time alignment to recognise connected digits. It was compared to a similar recogniser based on nine quasi-phonetic features instead of 38 phonemes. The phoneme based system performed better than the feature based one. I.
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| 36. |
- Elenius, K.O.E, et al.
(författare)
-
Effects of emphasizing transitional or stationary parts of the speech signal in a discrete utterance recognition system
- 1981
-
Ingår i: STL-QPSR. ; 22:4, s. 39-48
-
Tidskriftsartikel (refereegranskat)abstract
- A pattern matching word recognition system has been modified in order to emphasize the transient parts of speech in the similarity mesure. The technique is to weight the word distances with a normalized spectral change function. A small positive effect is measured. Emphasizing the stationary parts is shown to substantially decrease the performance. Adding the time derivative of the speech parameters to the word patterns improves performance significantly. This is probaly a consequence of an improvement in the description of the transient segments.
|
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| 37. |
- Elenius, K.O.E., et al.
(författare)
-
Experiments with artificial neural networks for phoneme and word recognit
- 1993
-
Ingår i: STL-QPSR. ; 34:1, s. 47-56
-
Tidskriftsartikel (refereegranskat)abstract
- An artificial neural network has been bained by the error back-propagation technique to recopse phonemes and words. The speech material was recorded by a male Swedish talker and was labelled by a phonetician. There were 38ou put nodes corresponding to Swedish phonemes. Introducing coarticulation information by adding simple recurrency to the net is shown to be more effective than expanding the size of the input spectral window. The phoneme recognition network was used with dynamic programming for time alignment to recognise connected digits in a speakerindependent way. It was compared to a similar recogniser based on nine quasi-phonetic features instead of 38phonemes. The phoneme-based system performed better fhan the feature-based one for five out of seven speakers.
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| 38. |
- Johansson, M, et al.
(författare)
-
A phoneme recognizer for the hearing impaired
- 2002
-
Konferensbidrag (refereegranskat)abstract
- This paper describes an automatic speech recognition system designed to investigate the use of phoneme recognition as a hearing aid in telephone communication. The system was tested in two experiments. The first involved 19 normal hearing subjects with a simulated severe hearing impairment. The second involved 5 hearing impaired subjects. In both studies we used a procedure called Speech Tracking to measure the effective communication speed between two persons. A substantial improvement was found in both cases.
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| 39. |
- Junttila, T T, et al.
(författare)
-
Cleavable ErbB4 isoform in estrogen receptor-regulated growth of breast cancer cells
- 2005
-
Ingår i: Cancer Research. - 1538-7445. ; 65:4, s. 1384-1393
-
Tidskriftsartikel (refereegranskat)abstract
- ErbB1 and ErbB2 receptors are well-characterized targets for anticancer drugs, but the clinical relevance of the related ErbB4 receptor is unknown. Here, we have assessed the clinical significance of the proteolytically cleavable ErbB4 isoforms in breast cancer patients and investigated their functions in vitro. The expression of transcripts encoding the cleavable ErbB4 isoforms associated with estrogen receptor-{alpha} (ER) expression (P < 0.001) and a high histologic grade of differentiation (P ≤ 0.002) in real-time reverse transcription-PCR analysis of 62 breast cancer samples. Despite high ErbB4 mRNA expression levels in a subset of samples, ErbB4 gene amplification was not observed. High ErbB4 protein expression levels, as assessed by immunohistochemistry, associated with a favorable outcome in ER-positive cases from a series of 458 breast cancer patients (P = 0.01), whereas no association between ErbB4 expression and survival was found among women with ER-negative cancer (P = 0.86). However, nuclear ErbB4 immunoreactivity was associated with poor survival as compared with women whose cancer had membranous ErbB4 staining (P = 0.04). In vitro, overexpression of a cleavable ErbB4 isoform in ER-positive breast cancer cells resulted in translocation of a proteolytically released intracellular ErbB4 receptor fragment into the nucleus, as well as, enhanced proliferation, anchorage-independent growth, and estrogen response element–mediated transcriptional activity. These results suggest that the association of ErbB4 expression with clinical outcome is dependent on the subcellular localization of ErbB4 and that a proteinase-cleavable ErbB4 isoform promotes growth of ER-positive breast cancer and enhances ER-mediated gene transcription.
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| 40. |
- Lundin, F, et al.
(författare)
-
Voice controlled dialing in an intercom system
- 1983
-
Konferensbidrag (refereegranskat)abstract
- We will describe an experiment in which we have used speech recognition for voice-controlled dialing in an intercom system. The experimental system is described and the results of the tests are discussed. Finally we present a voice-controlled intercom exchange that may be seen as the result of our study with the presentaly available technique. It is marketed by LM Ericsson telemateriel AB
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| 41. |
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| 42. |
- Nordebo, S, et al.
(författare)
-
Noise Reduction Using an Adaptive Microphone Array for Speech Recognition in a Car
- 1993
-
Konferensbidrag (refereegranskat)abstract
- TIGS paper describes an evaluation of an adaptive microphone array with respect to speech recognition performauce in a tar. The microphone array is compared KO two conventional microphones of different rypes. The speech recognition device is aimed to be a part of a man/maehine-interface between the driver and tar information services.
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| 43. |
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