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Lucas Etienne - One of the best experts on this subject based on the ideXlab platform.

  • pseudotachylyte in the monte maggiore ophiolitic unit alpine corsica a possible lateral extension of the cima di gratera intermediate depth wadati benioff paleo seismic zone
    Bulletin De La Societe Geologique De France, 2018
    Co-Authors: Olivier Fabbri, Remi Magott, Marc Fournier, Lucas Etienne
    Abstract:

    At the northern end of the Cap Corse peninsula, several Klippes of ultramafic rocks (peridotite and serpentinite), among which the Monte Maggiore Klippe is the least serpentinized one, rest upon continental-crust derived rocks (Centuri gneisses) and basic or metasedimentary schists (Schistes Lustres). The Monte Maggiore ophiolitic Klippe shares several characteristics with the Cima di Gratera Klippe located 30 km further south. First, the two units are composed of a lherzolitic peridotite. Second, they record the same succession of metamorphic events. Third, in the Cap Corse tectonic pile, the two units occupy the highest structural position. Several differences are also observed. First, mafic rocks are significantly less abundant in the Monte Maggiore unit, where they are restricted to dykes cross-cutting the peridotite, than in the Cima di Gratera unit, where they constitute an entire sub-unit. Second, pyroxenite layers are more common at Monte Maggiore than at Cima di Gratera. Despite these differences, the Monte Maggiore and Cima di Gratera Klippes can be considered as possible lateral equivalents of a single ophiolitic unit having covered the entire Cap Corse before subsequent erosion. Pseudotachylyte of seismic origin is newly discovered in the Monte Maggiore Klippe. The host rock is a cataclastic serpentinized peridotite affected by a cataclastic foliation that is either flat-lying or steeply dipping. Pseudotachylyte fault veins are parallel to the host rock cataclastic foliation. The small lateral extension and the small thickness of fault veins along with frequent cross-cutting relationships suggest that the exposed pseudotachylyte most likely results from numerous small magnitude seismic events such as swarms or aftershocks rather than from large magnitude shocks. All these characteristics are also observed at the Cima di Gratera Klippe where they are interpreted as the testimonies of a fossil intermediate-depth Wadati-Benioff zone at the time of subduction of the Ligurian Tethys oceanic lithosphere. Mineral assemblages that could constrain the depth of formation of the pseudotachylyte lack in the Monte Maggiore area. Despite this uncertainty, and given the similarities with the Cima di Gratera occurrences, the pseudotachylyte veins newly discovered at Monte Maggiore are tentatively related to the seismic activity linked with the subduction of the Piemonte-Ligurian oceanic lithosphere in Eocene times. This interpretation suggests that the fossil Wadati-Benioff zone could be traced further south in Alpine Corsica and further north in the Piemontese zone of the western Alps.

  • Pseudotachylyte in the Monte Maggiore ophiolitic unit (Alpine Corsica): a possible lateral extension of the Cima di Gratera intermediate-depth Wadati-Benioff paleo-seismic zone
    Bulletin de la Société Géologique de France, 2018
    Co-Authors: Olivier Fabbri, Remi Magott, Marc Fournier, Lucas Etienne
    Abstract:

    At the northern end of the Cap Corse peninsula, several Klippes of ultramafic rocks (peridotite and serpentinite), among which the Monte Maggiore Klippe is the least serpentinized one, rest upon continental-crust derived rocks (Centuri gneisses) and basic or metasedimentary schists (Schistes Lustrés). The Monte Maggiore ophiolitic Klippe shares several characteristics with the Cima di Gratera Klippe located 30 km further south. First, the two units are composed of a lherzolitic peridotite. Second, they record the same succession of metamorphic events. Third, in the Cap Corse tectonic pile, the two units occupy the highest structural position. Several differences are also observed. First, mafic rocks are significantly less abundant in the Monte Maggiore unit, where they are restricted to dykes cross-cutting the peridotite, than in the Cima di Gratera unit, where they constitute an entire sub-unit. Second, pyroxenite layers are more common at Monte Maggiore than at Cima di Gratera. Despite these differences, the Monte Maggiore and Cima di Gratera Klippes can be considered as possible lateral equivalents of a single ophiolitic unit having covered the entire Cap Corse before subsequent erosion. Pseudotachylyte of seismic origin is newly discovered in the Monte Maggiore Klippe. The host rock is a cataclastic serpentinized peridotite affected by a cataclastic foliation that is either flat-lying or steeply dipping. Pseudotachylyte fault veins are parallel to the host rock cataclastic foliation. The small lateral extension and the small thickness of fault veins along with frequent cross-cutting relationships suggest that the exposed pseudotachylyte most likely results from numerous small magnitude seismic events such as swarms or aftershocks rather than from large magnitude shocks. All these characteristics are also observed at the Cima di Gratera Klippe where they are interpreted as the testimonies of a fossil intermediate-depth Wadati-Benioff zone at the time of subduction of the Ligurian Tethys oceanic lithosphere. Mineral assemblages that could constrain the depth of formation of the pseudotachylyte lack in the Monte Maggiore area. Despite this uncertainty, and given the similarities with the Cima di Gratera occurrences, the pseudotachylyte veins newly discovered at Monte Maggiore are tentatively related to the seismic activity linked with the subduction of the Piemonte-Ligurian oceanic lithosphere in Eocene times. This interpretation suggests that the fossil Wadati-Benioff zone could be traced further south in Alpine Corsica and further north in the Piemontese zone of the western Alps.

Yavuz Bayram - One of the best experts on this subject based on the ideXlab platform.

  • rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel feil syndrome
    American Journal of Medical Genetics Part A, 2015
    Co-Authors: Ender Karaca, Ozge Ozalp Yuregir, Sevcan Tug Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N Jhangiani, Zeynep Coban Akdemir, Tomasz Gambin, Yavuz Bayram
    Abstract:

    Klippel–Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel–Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel–Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. Heterotaxy arises from defects in proteins that function in the development of left–right asymmetry of the developing embryo. We describe a consanguineous family with a male proband who presents with classical Klippel–Feil syndrome together with heterotaxy (situs inversus totalis). The present patient also had Sprengel’s deformity, deformity of the sternum, and a solitary kidney. Using exome sequencing, we identified a homozygous frameshift mutation (c.299delT; p.L100fs) in RIPPLY2, a gene shown to play a crucial role in somitogenesis and participate in the Notch signaling pathway via negatively regulating Tbx6. Our data confirm RIPPLY2 as a novel gene for autosomal recessive Klippel–Feil syndrome, and in addition—from a mechanistic standpoint—suggest the possibility that mutations in RIPPLY2 could also lead to heterotaxy.

  • rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel feil syndrome
    American Journal of Medical Genetics Part A, 2015
    Co-Authors: Ender Karaca, Ozge Ozalp Yuregir, Sevcan Tug Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N Jhangiani, Zeynep Coban Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M Atik
    Abstract:

    Klippel-Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel-Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. Heterotaxy arises from defects in proteins that function in the development of left-right asymmetry of the developing embryo. We describe a consanguineous family with a male proband who presents with classical Klippel-Feil syndrome together with heterotaxy (situs inversus totalis). The present patient also had Sprengel's deformity, deformity of the sternum, and a solitary kidney. Using exome sequencing, we identified a homozygous frameshift mutation (c.299delT; p.L100fs) in RIPPLY2, a gene shown to play a crucial role in somitogenesis and participate in the Notch signaling pathway via negatively regulating Tbx6. Our data confirm RIPPLY2 as a novel gene for autosomal recessive Klippel-Feil syndrome, and in addition-from a mechanistic standpoint-suggest the possibility that mutations in RIPPLY2 could also lead to heterotaxy. © 2015 Wiley Periodicals, Inc.

Shalini N Jhangiani - One of the best experts on this subject based on the ideXlab platform.

  • rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel feil syndrome
    American Journal of Medical Genetics Part A, 2015
    Co-Authors: Ender Karaca, Ozge Ozalp Yuregir, Sevcan Tug Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N Jhangiani, Zeynep Coban Akdemir, Tomasz Gambin, Yavuz Bayram
    Abstract:

    Klippel–Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel–Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel–Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. Heterotaxy arises from defects in proteins that function in the development of left–right asymmetry of the developing embryo. We describe a consanguineous family with a male proband who presents with classical Klippel–Feil syndrome together with heterotaxy (situs inversus totalis). The present patient also had Sprengel’s deformity, deformity of the sternum, and a solitary kidney. Using exome sequencing, we identified a homozygous frameshift mutation (c.299delT; p.L100fs) in RIPPLY2, a gene shown to play a crucial role in somitogenesis and participate in the Notch signaling pathway via negatively regulating Tbx6. Our data confirm RIPPLY2 as a novel gene for autosomal recessive Klippel–Feil syndrome, and in addition—from a mechanistic standpoint—suggest the possibility that mutations in RIPPLY2 could also lead to heterotaxy.

  • rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel feil syndrome
    American Journal of Medical Genetics Part A, 2015
    Co-Authors: Ender Karaca, Ozge Ozalp Yuregir, Sevcan Tug Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N Jhangiani, Zeynep Coban Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M Atik
    Abstract:

    Klippel-Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel-Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. Heterotaxy arises from defects in proteins that function in the development of left-right asymmetry of the developing embryo. We describe a consanguineous family with a male proband who presents with classical Klippel-Feil syndrome together with heterotaxy (situs inversus totalis). The present patient also had Sprengel's deformity, deformity of the sternum, and a solitary kidney. Using exome sequencing, we identified a homozygous frameshift mutation (c.299delT; p.L100fs) in RIPPLY2, a gene shown to play a crucial role in somitogenesis and participate in the Notch signaling pathway via negatively regulating Tbx6. Our data confirm RIPPLY2 as a novel gene for autosomal recessive Klippel-Feil syndrome, and in addition-from a mechanistic standpoint-suggest the possibility that mutations in RIPPLY2 could also lead to heterotaxy. © 2015 Wiley Periodicals, Inc.

Ender Karaca - One of the best experts on this subject based on the ideXlab platform.

  • rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel feil syndrome
    American Journal of Medical Genetics Part A, 2015
    Co-Authors: Ender Karaca, Ozge Ozalp Yuregir, Sevcan Tug Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N Jhangiani, Zeynep Coban Akdemir, Tomasz Gambin, Yavuz Bayram
    Abstract:

    Klippel–Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel–Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel–Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. Heterotaxy arises from defects in proteins that function in the development of left–right asymmetry of the developing embryo. We describe a consanguineous family with a male proband who presents with classical Klippel–Feil syndrome together with heterotaxy (situs inversus totalis). The present patient also had Sprengel’s deformity, deformity of the sternum, and a solitary kidney. Using exome sequencing, we identified a homozygous frameshift mutation (c.299delT; p.L100fs) in RIPPLY2, a gene shown to play a crucial role in somitogenesis and participate in the Notch signaling pathway via negatively regulating Tbx6. Our data confirm RIPPLY2 as a novel gene for autosomal recessive Klippel–Feil syndrome, and in addition—from a mechanistic standpoint—suggest the possibility that mutations in RIPPLY2 could also lead to heterotaxy.

  • rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel feil syndrome
    American Journal of Medical Genetics Part A, 2015
    Co-Authors: Ender Karaca, Ozge Ozalp Yuregir, Sevcan Tug Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N Jhangiani, Zeynep Coban Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M Atik
    Abstract:

    Klippel-Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel-Feil. Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. Heterotaxy arises from defects in proteins that function in the development of left-right asymmetry of the developing embryo. We describe a consanguineous family with a male proband who presents with classical Klippel-Feil syndrome together with heterotaxy (situs inversus totalis). The present patient also had Sprengel's deformity, deformity of the sternum, and a solitary kidney. Using exome sequencing, we identified a homozygous frameshift mutation (c.299delT; p.L100fs) in RIPPLY2, a gene shown to play a crucial role in somitogenesis and participate in the Notch signaling pathway via negatively regulating Tbx6. Our data confirm RIPPLY2 as a novel gene for autosomal recessive Klippel-Feil syndrome, and in addition-from a mechanistic standpoint-suggest the possibility that mutations in RIPPLY2 could also lead to heterotaxy. © 2015 Wiley Periodicals, Inc.

Olivier Fabbri - One of the best experts on this subject based on the ideXlab platform.

  • pseudotachylyte in the monte maggiore ophiolitic unit alpine corsica a possible lateral extension of the cima di gratera intermediate depth wadati benioff paleo seismic zone
    Bulletin De La Societe Geologique De France, 2018
    Co-Authors: Olivier Fabbri, Remi Magott, Marc Fournier, Lucas Etienne
    Abstract:

    At the northern end of the Cap Corse peninsula, several Klippes of ultramafic rocks (peridotite and serpentinite), among which the Monte Maggiore Klippe is the least serpentinized one, rest upon continental-crust derived rocks (Centuri gneisses) and basic or metasedimentary schists (Schistes Lustres). The Monte Maggiore ophiolitic Klippe shares several characteristics with the Cima di Gratera Klippe located 30 km further south. First, the two units are composed of a lherzolitic peridotite. Second, they record the same succession of metamorphic events. Third, in the Cap Corse tectonic pile, the two units occupy the highest structural position. Several differences are also observed. First, mafic rocks are significantly less abundant in the Monte Maggiore unit, where they are restricted to dykes cross-cutting the peridotite, than in the Cima di Gratera unit, where they constitute an entire sub-unit. Second, pyroxenite layers are more common at Monte Maggiore than at Cima di Gratera. Despite these differences, the Monte Maggiore and Cima di Gratera Klippes can be considered as possible lateral equivalents of a single ophiolitic unit having covered the entire Cap Corse before subsequent erosion. Pseudotachylyte of seismic origin is newly discovered in the Monte Maggiore Klippe. The host rock is a cataclastic serpentinized peridotite affected by a cataclastic foliation that is either flat-lying or steeply dipping. Pseudotachylyte fault veins are parallel to the host rock cataclastic foliation. The small lateral extension and the small thickness of fault veins along with frequent cross-cutting relationships suggest that the exposed pseudotachylyte most likely results from numerous small magnitude seismic events such as swarms or aftershocks rather than from large magnitude shocks. All these characteristics are also observed at the Cima di Gratera Klippe where they are interpreted as the testimonies of a fossil intermediate-depth Wadati-Benioff zone at the time of subduction of the Ligurian Tethys oceanic lithosphere. Mineral assemblages that could constrain the depth of formation of the pseudotachylyte lack in the Monte Maggiore area. Despite this uncertainty, and given the similarities with the Cima di Gratera occurrences, the pseudotachylyte veins newly discovered at Monte Maggiore are tentatively related to the seismic activity linked with the subduction of the Piemonte-Ligurian oceanic lithosphere in Eocene times. This interpretation suggests that the fossil Wadati-Benioff zone could be traced further south in Alpine Corsica and further north in the Piemontese zone of the western Alps.

  • Pseudotachylyte in the Monte Maggiore ophiolitic unit (Alpine Corsica): a possible lateral extension of the Cima di Gratera intermediate-depth Wadati-Benioff paleo-seismic zone
    Bulletin de la Société Géologique de France, 2018
    Co-Authors: Olivier Fabbri, Remi Magott, Marc Fournier, Lucas Etienne
    Abstract:

    At the northern end of the Cap Corse peninsula, several Klippes of ultramafic rocks (peridotite and serpentinite), among which the Monte Maggiore Klippe is the least serpentinized one, rest upon continental-crust derived rocks (Centuri gneisses) and basic or metasedimentary schists (Schistes Lustrés). The Monte Maggiore ophiolitic Klippe shares several characteristics with the Cima di Gratera Klippe located 30 km further south. First, the two units are composed of a lherzolitic peridotite. Second, they record the same succession of metamorphic events. Third, in the Cap Corse tectonic pile, the two units occupy the highest structural position. Several differences are also observed. First, mafic rocks are significantly less abundant in the Monte Maggiore unit, where they are restricted to dykes cross-cutting the peridotite, than in the Cima di Gratera unit, where they constitute an entire sub-unit. Second, pyroxenite layers are more common at Monte Maggiore than at Cima di Gratera. Despite these differences, the Monte Maggiore and Cima di Gratera Klippes can be considered as possible lateral equivalents of a single ophiolitic unit having covered the entire Cap Corse before subsequent erosion. Pseudotachylyte of seismic origin is newly discovered in the Monte Maggiore Klippe. The host rock is a cataclastic serpentinized peridotite affected by a cataclastic foliation that is either flat-lying or steeply dipping. Pseudotachylyte fault veins are parallel to the host rock cataclastic foliation. The small lateral extension and the small thickness of fault veins along with frequent cross-cutting relationships suggest that the exposed pseudotachylyte most likely results from numerous small magnitude seismic events such as swarms or aftershocks rather than from large magnitude shocks. All these characteristics are also observed at the Cima di Gratera Klippe where they are interpreted as the testimonies of a fossil intermediate-depth Wadati-Benioff zone at the time of subduction of the Ligurian Tethys oceanic lithosphere. Mineral assemblages that could constrain the depth of formation of the pseudotachylyte lack in the Monte Maggiore area. Despite this uncertainty, and given the similarities with the Cima di Gratera occurrences, the pseudotachylyte veins newly discovered at Monte Maggiore are tentatively related to the seismic activity linked with the subduction of the Piemonte-Ligurian oceanic lithosphere in Eocene times. This interpretation suggests that the fossil Wadati-Benioff zone could be traced further south in Alpine Corsica and further north in the Piemontese zone of the western Alps.