Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome
Abstract We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of pro...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Petek, Erwin [verfasserIn] Schwarzbraun, Thomas [verfasserIn] Noor, Abdul [verfasserIn] Patel, Megha [verfasserIn] Nakabayashi, Kazuhiko [verfasserIn] Choufani, Sanaa [verfasserIn] Windpassinger, Christian [verfasserIn] Stamenkovic, Mara [verfasserIn] Robertson, Mary M. [verfasserIn] Aschauer, Harald N. [verfasserIn] Gurling, Hugh M. D. [verfasserIn] Kroisel, Peter M. [verfasserIn] Wagner, Klaus [verfasserIn] Scherer, Stephen W. [verfasserIn] Vincent, John B. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2006 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Molecular genetics and genomics - Berlin : Springer, 1908, 277(2006), 1 vom: 17. Okt., Seite 71-81 |
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| Übergeordnetes Werk: |
volume:277 ; year:2006 ; number:1 ; day:17 ; month:10 ; pages:71-81 |
| Links: |
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| DOI / URN: |
10.1007/s00438-006-0173-1 |
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| Katalog-ID: |
SPR005976758 |
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| 245 | 1 | 0 | |a Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome |
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| 520 | |a Abstract We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder. | ||
| 650 | 4 | |a Autism |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Tourette |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Chromosome 7 |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Inner mitochondrial peptidase 2-like |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Schwarzbraun, Thomas |e verfasserin |4 aut | |
| 700 | 1 | |a Noor, Abdul |e verfasserin |4 aut | |
| 700 | 1 | |a Patel, Megha |e verfasserin |4 aut | |
| 700 | 1 | |a Nakabayashi, Kazuhiko |e verfasserin |4 aut | |
| 700 | 1 | |a Choufani, Sanaa |e verfasserin |4 aut | |
| 700 | 1 | |a Windpassinger, Christian |e verfasserin |4 aut | |
| 700 | 1 | |a Stamenkovic, Mara |e verfasserin |4 aut | |
| 700 | 1 | |a Robertson, Mary M. |e verfasserin |4 aut | |
| 700 | 1 | |a Aschauer, Harald N. |e verfasserin |4 aut | |
| 700 | 1 | |a Gurling, Hugh M. D. |e verfasserin |4 aut | |
| 700 | 1 | |a Kroisel, Peter M. |e verfasserin |4 aut | |
| 700 | 1 | |a Wagner, Klaus |e verfasserin |4 aut | |
| 700 | 1 | |a Scherer, Stephen W. |e verfasserin |4 aut | |
| 700 | 1 | |a Vincent, John B. |e verfasserin |4 aut | |
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10.1007/s00438-006-0173-1 doi (DE-627)SPR005976758 (SPR)s00438-006-0173-1-e DE-627 ger DE-627 rakwb eng 570 ASE 42.13 bkl 42.20 bkl Petek, Erwin verfasserin aut Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder. Autism (dpeaa)DE-He213 Tourette (dpeaa)DE-He213 Chromosome 7 (dpeaa)DE-He213 Inner mitochondrial peptidase 2-like (dpeaa)DE-He213 Schwarzbraun, Thomas verfasserin aut Noor, Abdul verfasserin aut Patel, Megha verfasserin aut Nakabayashi, Kazuhiko verfasserin aut Choufani, Sanaa verfasserin aut Windpassinger, Christian verfasserin aut Stamenkovic, Mara verfasserin aut Robertson, Mary M. verfasserin aut Aschauer, Harald N. verfasserin aut Gurling, Hugh M. D. verfasserin aut Kroisel, Peter M. verfasserin aut Wagner, Klaus verfasserin aut Scherer, Stephen W. verfasserin aut Vincent, John B. verfasserin aut Enthalten in Molecular genetics and genomics Berlin : Springer, 1908 277(2006), 1 vom: 17. Okt., Seite 71-81 (DE-627)254630243 (DE-600)1462070-4 1432-1874 nnns volume:277 year:2006 number:1 day:17 month:10 pages:71-81 https://dx.doi.org/10.1007/s00438-006-0173-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 ASE 42.20 ASE AR 277 2006 1 17 10 71-81 |
| spelling |
10.1007/s00438-006-0173-1 doi (DE-627)SPR005976758 (SPR)s00438-006-0173-1-e DE-627 ger DE-627 rakwb eng 570 ASE 42.13 bkl 42.20 bkl Petek, Erwin verfasserin aut Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder. Autism (dpeaa)DE-He213 Tourette (dpeaa)DE-He213 Chromosome 7 (dpeaa)DE-He213 Inner mitochondrial peptidase 2-like (dpeaa)DE-He213 Schwarzbraun, Thomas verfasserin aut Noor, Abdul verfasserin aut Patel, Megha verfasserin aut Nakabayashi, Kazuhiko verfasserin aut Choufani, Sanaa verfasserin aut Windpassinger, Christian verfasserin aut Stamenkovic, Mara verfasserin aut Robertson, Mary M. verfasserin aut Aschauer, Harald N. verfasserin aut Gurling, Hugh M. D. verfasserin aut Kroisel, Peter M. verfasserin aut Wagner, Klaus verfasserin aut Scherer, Stephen W. verfasserin aut Vincent, John B. verfasserin aut Enthalten in Molecular genetics and genomics Berlin : Springer, 1908 277(2006), 1 vom: 17. Okt., Seite 71-81 (DE-627)254630243 (DE-600)1462070-4 1432-1874 nnns volume:277 year:2006 number:1 day:17 month:10 pages:71-81 https://dx.doi.org/10.1007/s00438-006-0173-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 ASE 42.20 ASE AR 277 2006 1 17 10 71-81 |
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10.1007/s00438-006-0173-1 doi (DE-627)SPR005976758 (SPR)s00438-006-0173-1-e DE-627 ger DE-627 rakwb eng 570 ASE 42.13 bkl 42.20 bkl Petek, Erwin verfasserin aut Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder. Autism (dpeaa)DE-He213 Tourette (dpeaa)DE-He213 Chromosome 7 (dpeaa)DE-He213 Inner mitochondrial peptidase 2-like (dpeaa)DE-He213 Schwarzbraun, Thomas verfasserin aut Noor, Abdul verfasserin aut Patel, Megha verfasserin aut Nakabayashi, Kazuhiko verfasserin aut Choufani, Sanaa verfasserin aut Windpassinger, Christian verfasserin aut Stamenkovic, Mara verfasserin aut Robertson, Mary M. verfasserin aut Aschauer, Harald N. verfasserin aut Gurling, Hugh M. D. verfasserin aut Kroisel, Peter M. verfasserin aut Wagner, Klaus verfasserin aut Scherer, Stephen W. verfasserin aut Vincent, John B. verfasserin aut Enthalten in Molecular genetics and genomics Berlin : Springer, 1908 277(2006), 1 vom: 17. Okt., Seite 71-81 (DE-627)254630243 (DE-600)1462070-4 1432-1874 nnns volume:277 year:2006 number:1 day:17 month:10 pages:71-81 https://dx.doi.org/10.1007/s00438-006-0173-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 ASE 42.20 ASE AR 277 2006 1 17 10 71-81 |
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10.1007/s00438-006-0173-1 doi (DE-627)SPR005976758 (SPR)s00438-006-0173-1-e DE-627 ger DE-627 rakwb eng 570 ASE 42.13 bkl 42.20 bkl Petek, Erwin verfasserin aut Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder. Autism (dpeaa)DE-He213 Tourette (dpeaa)DE-He213 Chromosome 7 (dpeaa)DE-He213 Inner mitochondrial peptidase 2-like (dpeaa)DE-He213 Schwarzbraun, Thomas verfasserin aut Noor, Abdul verfasserin aut Patel, Megha verfasserin aut Nakabayashi, Kazuhiko verfasserin aut Choufani, Sanaa verfasserin aut Windpassinger, Christian verfasserin aut Stamenkovic, Mara verfasserin aut Robertson, Mary M. verfasserin aut Aschauer, Harald N. verfasserin aut Gurling, Hugh M. D. verfasserin aut Kroisel, Peter M. verfasserin aut Wagner, Klaus verfasserin aut Scherer, Stephen W. verfasserin aut Vincent, John B. verfasserin aut Enthalten in Molecular genetics and genomics Berlin : Springer, 1908 277(2006), 1 vom: 17. Okt., Seite 71-81 (DE-627)254630243 (DE-600)1462070-4 1432-1874 nnns volume:277 year:2006 number:1 day:17 month:10 pages:71-81 https://dx.doi.org/10.1007/s00438-006-0173-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 ASE 42.20 ASE AR 277 2006 1 17 10 71-81 |
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10.1007/s00438-006-0173-1 doi (DE-627)SPR005976758 (SPR)s00438-006-0173-1-e DE-627 ger DE-627 rakwb eng 570 ASE 42.13 bkl 42.20 bkl Petek, Erwin verfasserin aut Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder. Autism (dpeaa)DE-He213 Tourette (dpeaa)DE-He213 Chromosome 7 (dpeaa)DE-He213 Inner mitochondrial peptidase 2-like (dpeaa)DE-He213 Schwarzbraun, Thomas verfasserin aut Noor, Abdul verfasserin aut Patel, Megha verfasserin aut Nakabayashi, Kazuhiko verfasserin aut Choufani, Sanaa verfasserin aut Windpassinger, Christian verfasserin aut Stamenkovic, Mara verfasserin aut Robertson, Mary M. verfasserin aut Aschauer, Harald N. verfasserin aut Gurling, Hugh M. D. verfasserin aut Kroisel, Peter M. verfasserin aut Wagner, Klaus verfasserin aut Scherer, Stephen W. verfasserin aut Vincent, John B. verfasserin aut Enthalten in Molecular genetics and genomics Berlin : Springer, 1908 277(2006), 1 vom: 17. Okt., Seite 71-81 (DE-627)254630243 (DE-600)1462070-4 1432-1874 nnns volume:277 year:2006 number:1 day:17 month:10 pages:71-81 https://dx.doi.org/10.1007/s00438-006-0173-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_647 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4277 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 ASE 42.20 ASE AR 277 2006 1 17 10 71-81 |
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Enthalten in Molecular genetics and genomics 277(2006), 1 vom: 17. Okt., Seite 71-81 volume:277 year:2006 number:1 day:17 month:10 pages:71-81 |
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Enthalten in Molecular genetics and genomics 277(2006), 1 vom: 17. Okt., Seite 71-81 volume:277 year:2006 number:1 day:17 month:10 pages:71-81 |
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Autism Tourette Chromosome 7 Inner mitochondrial peptidase 2-like |
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Molecular genetics and genomics |
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Petek, Erwin @@aut@@ Schwarzbraun, Thomas @@aut@@ Noor, Abdul @@aut@@ Patel, Megha @@aut@@ Nakabayashi, Kazuhiko @@aut@@ Choufani, Sanaa @@aut@@ Windpassinger, Christian @@aut@@ Stamenkovic, Mara @@aut@@ Robertson, Mary M. @@aut@@ Aschauer, Harald N. @@aut@@ Gurling, Hugh M. D. @@aut@@ Kroisel, Peter M. @@aut@@ Wagner, Klaus @@aut@@ Scherer, Stephen W. @@aut@@ Vincent, John B. @@aut@@ |
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In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). 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|
| author |
Petek, Erwin |
| spellingShingle |
Petek, Erwin ddc 570 bkl 42.13 bkl 42.20 misc Autism misc Tourette misc Chromosome 7 misc Inner mitochondrial peptidase 2-like Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome |
| authorStr |
Petek, Erwin |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)254630243 |
| format |
electronic Article |
| dewey-ones |
570 - Life sciences; biology |
| delete_txt_mv |
keep |
| author_role |
aut aut aut aut aut aut aut aut aut aut aut aut aut aut aut |
| collection |
springer |
| remote_str |
true |
| illustrated |
Not Illustrated |
| issn |
1432-1874 |
| topic_title |
570 ASE 42.13 bkl 42.20 bkl Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome Autism (dpeaa)DE-He213 Tourette (dpeaa)DE-He213 Chromosome 7 (dpeaa)DE-He213 Inner mitochondrial peptidase 2-like (dpeaa)DE-He213 |
| topic |
ddc 570 bkl 42.13 bkl 42.20 misc Autism misc Tourette misc Chromosome 7 misc Inner mitochondrial peptidase 2-like |
| topic_unstemmed |
ddc 570 bkl 42.13 bkl 42.20 misc Autism misc Tourette misc Chromosome 7 misc Inner mitochondrial peptidase 2-like |
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Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome |
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Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome |
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Petek, Erwin |
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Petek, Erwin Schwarzbraun, Thomas Noor, Abdul Patel, Megha Nakabayashi, Kazuhiko Choufani, Sanaa Windpassinger, Christian Stamenkovic, Mara Robertson, Mary M. Aschauer, Harald N. Gurling, Hugh M. D. Kroisel, Peter M. Wagner, Klaus Scherer, Stephen W. Vincent, John B. |
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molecular and genomic studies of immp2l and mutation screening in autism and tourette syndrome |
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Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome |
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Abstract We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder. |
| abstractGer |
Abstract We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder. |
| abstract_unstemmed |
Abstract We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder. |
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| score |
7.3998966 |