Charcot–Marie–Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of... more Charcot–Marie–Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN‐Lom (MIM 601455), HMSN‐Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168). We have carried out genetic analyses in a series of 20 Spanish Gypsy families diagnosed with a demyelinating CMT disease compatible with an autosomal recessive trait. We found the p.R148X mutation in the N‐myc downstream‐regulated gene 1 gene to be responsible for the HMSN‐Lom in four families and also possible linkage to the HMSN‐Russe locus in three others. We have also studied the CMT4C locus because of the clinical similarities and showed that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH...
We reviewed current knowledge of the molecular and genetic bases of hereditary peripheral neuropa... more We reviewed current knowledge of the molecular and genetic bases of hereditary peripheral neuropathies, with special emphasis on the senso motor neuropathies and their different clinical phenotypes. The peripheral neuropathies show great clinical variability and genetic heterogeneity. To date 12 genes and over 20 genetic loci have been described in relation to Charcot Marie Tooth disease and related neuropathies. The commonest form is the type 1A Charcot Marie Tooth disease (CMT1A) caused by tandem duplication of a monomer of 1.5 megabases (Mb) on chromosome 17q11.2. The CMT 1A duplication is found in 70% of the patients with CMT 1. The deletion of 1.5 Mb is the most prevalent mutation (85%) in hereditary neuropathy with susceptibility to paralysis due to pressure. This monomer includes the PMP22 gene which is affected by a genetic dose effect. The different proteins encoded by the genes described are well expressed in the Schwann cell and in the nerve axon. They have different functions. There are the structural proteins of myelin, transcription factors, cytoskeleton components, molecular motors of the microtubules, proteins involved in growth and cellular differentiation or with presumed enzyme activity. Diagnosis of molecular pathology is important for genetic counselling. The development of new treatment for hereditary neuropathies is based on the generation of animal models for the different genes and on understanding the role of the proteins involved in axon Schwann cell interaction.
Sodalites are tridimensional alumino-silicate materials containing cages where loosely bonded ani... more Sodalites are tridimensional alumino-silicate materials containing cages where loosely bonded anions are located. Yeelimite, Ca-4[Al6O12]SO4, is outstanding as an aluminate sodalite with a flexible framework accepting several type of dopants with important structural consequences. Moreover, yeelimite is also important from an applied perspective as it is the most relevant phase in calcium sulfoaluminate cements. The crystal structure of stoichiometric yeelimite has recently been unraveled, but the structure of dopant-containing yeelimite, which is present in cements, is not well studied. Here, we report the pseudocubic crystal structure of doped yeelimite, Ca3.8Na0.2Al5.6Fe0.2Si0.2O12SO4, from high-resolution synchrotron powder diffraction data. The powder pattern is indexed with a cubic cell, and a structural model is reported based on the I (4) over bar (3)m space group. However, this compound displays diffraction peak narrowing on heating. Furthermore, some high-angle split peaks...
Belite-rich cements hold promise for reduced energy consumption and CO2 emissions, but their use ... more Belite-rich cements hold promise for reduced energy consumption and CO2 emissions, but their use is hindered by the slow hydration rates of ordinary belites. This drawback may be overcome by activation of belite by doping. Here, the doping mechanism of B and Na/B in belites is reported. For B-doping, three solid solutions have been tested: Ca2-x/2□x/2(SiO4)1-x(BO3)x, Ca2(SiO4)1-x(BO3)xOx/2 and Ca2-xBx(SiO4)1-x(BO4)x. The experimental results support the substitution of silicate groups by tetrahedral borate groups with the concomitant substitution of calcium by boron for charge compensation, Ca2-xBx(SiO4)1-x(BO4)x. Otherwise, the coupled Na/B-doping of belite has also been investigated and Ca2-xNax(SiO4)1-x(BO3)x series is confirmed to exist for a large range of x values. Along this series, α'H-C2S is the main phase (for x ≥ 0.10) and is single phase for x = 0.25. Finally, a new structural description for borax doping in belite has been developed for α'H-Ca1.85Na0.15(SiO4)0.8...
Stoichiometric dicalcium silicate, Ca2SiO4, displays a well-known polymorphism with temperature. ... more Stoichiometric dicalcium silicate, Ca2SiO4, displays a well-known polymorphism with temperature. When this phase is doped by a range of elements, belite, one of the main phases of cements, is generated. Here, we thoroughly study the aluminum doping of dicalcium silicate. This type of study is important for cement characterization and also from a basic point of view. Ca2Si1-2xAl2xO4-x□x (x = 0, 0.010, 0.014, 0.03) has been prepared and studied by X-ray powder diffraction and the Rietveld method. The limiting composition has been established as Ca2Si0.972Al0.028O3.986□0.014. The (27)Al MAS NMR band located close to ∼-70 ppm is ascribed to tetrahedral environments, in agreement with the proposed aliovalent Si/Al atomic substitution mechanism. Thermal analysis measurements under a wet atmosphere indirectly confirm the increase of oxygen vacancies as the amount of incorporated protons increases with the aluminium content. A thorough electrical characterization has been carried out includ...
Belite sulfoaluminate (BSA) cements have been proposed as environmentally friendly building mater... more Belite sulfoaluminate (BSA) cements have been proposed as environmentally friendly building materials, as their production may release up to 35% less CO(2) into the atmosphere when compared with ordinary Portland cement fabrication. However, their formation mechanism has not been studied in detail so far. Here, an in situ high-temperature high-resolution synchrotron X-ray powder diffraction study is reported. Two types of BSA clinkers have been characterized, both containing 50-60 wt% C(2)S and 20-30 wt% C(4)A(3)\underline{\rm S} as main phases. One type is iron-rich and a second type (with different phase assemblage) is aluminium-rich. Furthermore, the C(2)S phase reacts slowly with water, thus activation of this compound is desirable in order to enhance the mechanical strength development of the resulting cements. To do so, iron-rich BSA clinkers have been doped with minor amounts of B(2)O(3) and Na(2)O to promote stabilization of α-forms of C(2)S, which are more reactive with wat...
Page 1. Energy & Fuels 1993, 7, 1141-1145 1141 Correlation between Arrhenius Kinetic Para... more Page 1. Energy & Fuels 1993, 7, 1141-1145 1141 Correlation between Arrhenius Kinetic Parameters in the Reaction of Different Carbon Materials with Oxygen Ana Cuesta, Amelia Martfnez-Alonso, and Juan M. D. Tasc6n' Instituto ...
Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of... more Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN-Lom (MIM 601455), HMSN-Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168). We have carried out genetic analyses in a series of 20 Spanish Gypsy families diagnosed with a demyelinating CMT disease compatible with an autosomal recessive trait. We found the p.R148X mutation in the N-myc downstream-regulated gene 1 gene to be responsible for the HMSN-Lom in four families and also possible linkage to the HMSN-Russe locus in three others. We have also studied the CMT4C locus because of the clinical similarities and showed that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene: p.R1109X in 20 out of 21 chromosomes and p.C737_P738delinsX in only one chromosome. Moreover, the SH3TC2 p.R1109X mutation is associated with a conserved haplotype and, therefore, may be a private founder mutation for the Gypsy population. Estimation of the allelic age revealed that the SH3TC2 p.R1109X mutation may have arisen about 225 years ago, probably as the consequence of a bottleneck.
Charcot–Marie–Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of... more Charcot–Marie–Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN‐Lom (MIM 601455), HMSN‐Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168). We have carried out genetic analyses in a series of 20 Spanish Gypsy families diagnosed with a demyelinating CMT disease compatible with an autosomal recessive trait. We found the p.R148X mutation in the N‐myc downstream‐regulated gene 1 gene to be responsible for the HMSN‐Lom in four families and also possible linkage to the HMSN‐Russe locus in three others. We have also studied the CMT4C locus because of the clinical similarities and showed that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH...
We reviewed current knowledge of the molecular and genetic bases of hereditary peripheral neuropa... more We reviewed current knowledge of the molecular and genetic bases of hereditary peripheral neuropathies, with special emphasis on the senso motor neuropathies and their different clinical phenotypes. The peripheral neuropathies show great clinical variability and genetic heterogeneity. To date 12 genes and over 20 genetic loci have been described in relation to Charcot Marie Tooth disease and related neuropathies. The commonest form is the type 1A Charcot Marie Tooth disease (CMT1A) caused by tandem duplication of a monomer of 1.5 megabases (Mb) on chromosome 17q11.2. The CMT 1A duplication is found in 70% of the patients with CMT 1. The deletion of 1.5 Mb is the most prevalent mutation (85%) in hereditary neuropathy with susceptibility to paralysis due to pressure. This monomer includes the PMP22 gene which is affected by a genetic dose effect. The different proteins encoded by the genes described are well expressed in the Schwann cell and in the nerve axon. They have different functions. There are the structural proteins of myelin, transcription factors, cytoskeleton components, molecular motors of the microtubules, proteins involved in growth and cellular differentiation or with presumed enzyme activity. Diagnosis of molecular pathology is important for genetic counselling. The development of new treatment for hereditary neuropathies is based on the generation of animal models for the different genes and on understanding the role of the proteins involved in axon Schwann cell interaction.
Sodalites are tridimensional alumino-silicate materials containing cages where loosely bonded ani... more Sodalites are tridimensional alumino-silicate materials containing cages where loosely bonded anions are located. Yeelimite, Ca-4[Al6O12]SO4, is outstanding as an aluminate sodalite with a flexible framework accepting several type of dopants with important structural consequences. Moreover, yeelimite is also important from an applied perspective as it is the most relevant phase in calcium sulfoaluminate cements. The crystal structure of stoichiometric yeelimite has recently been unraveled, but the structure of dopant-containing yeelimite, which is present in cements, is not well studied. Here, we report the pseudocubic crystal structure of doped yeelimite, Ca3.8Na0.2Al5.6Fe0.2Si0.2O12SO4, from high-resolution synchrotron powder diffraction data. The powder pattern is indexed with a cubic cell, and a structural model is reported based on the I (4) over bar (3)m space group. However, this compound displays diffraction peak narrowing on heating. Furthermore, some high-angle split peaks...
Belite-rich cements hold promise for reduced energy consumption and CO2 emissions, but their use ... more Belite-rich cements hold promise for reduced energy consumption and CO2 emissions, but their use is hindered by the slow hydration rates of ordinary belites. This drawback may be overcome by activation of belite by doping. Here, the doping mechanism of B and Na/B in belites is reported. For B-doping, three solid solutions have been tested: Ca2-x/2□x/2(SiO4)1-x(BO3)x, Ca2(SiO4)1-x(BO3)xOx/2 and Ca2-xBx(SiO4)1-x(BO4)x. The experimental results support the substitution of silicate groups by tetrahedral borate groups with the concomitant substitution of calcium by boron for charge compensation, Ca2-xBx(SiO4)1-x(BO4)x. Otherwise, the coupled Na/B-doping of belite has also been investigated and Ca2-xNax(SiO4)1-x(BO3)x series is confirmed to exist for a large range of x values. Along this series, α'H-C2S is the main phase (for x ≥ 0.10) and is single phase for x = 0.25. Finally, a new structural description for borax doping in belite has been developed for α'H-Ca1.85Na0.15(SiO4)0.8...
Stoichiometric dicalcium silicate, Ca2SiO4, displays a well-known polymorphism with temperature. ... more Stoichiometric dicalcium silicate, Ca2SiO4, displays a well-known polymorphism with temperature. When this phase is doped by a range of elements, belite, one of the main phases of cements, is generated. Here, we thoroughly study the aluminum doping of dicalcium silicate. This type of study is important for cement characterization and also from a basic point of view. Ca2Si1-2xAl2xO4-x□x (x = 0, 0.010, 0.014, 0.03) has been prepared and studied by X-ray powder diffraction and the Rietveld method. The limiting composition has been established as Ca2Si0.972Al0.028O3.986□0.014. The (27)Al MAS NMR band located close to ∼-70 ppm is ascribed to tetrahedral environments, in agreement with the proposed aliovalent Si/Al atomic substitution mechanism. Thermal analysis measurements under a wet atmosphere indirectly confirm the increase of oxygen vacancies as the amount of incorporated protons increases with the aluminium content. A thorough electrical characterization has been carried out includ...
Belite sulfoaluminate (BSA) cements have been proposed as environmentally friendly building mater... more Belite sulfoaluminate (BSA) cements have been proposed as environmentally friendly building materials, as their production may release up to 35% less CO(2) into the atmosphere when compared with ordinary Portland cement fabrication. However, their formation mechanism has not been studied in detail so far. Here, an in situ high-temperature high-resolution synchrotron X-ray powder diffraction study is reported. Two types of BSA clinkers have been characterized, both containing 50-60 wt% C(2)S and 20-30 wt% C(4)A(3)\underline{\rm S} as main phases. One type is iron-rich and a second type (with different phase assemblage) is aluminium-rich. Furthermore, the C(2)S phase reacts slowly with water, thus activation of this compound is desirable in order to enhance the mechanical strength development of the resulting cements. To do so, iron-rich BSA clinkers have been doped with minor amounts of B(2)O(3) and Na(2)O to promote stabilization of α-forms of C(2)S, which are more reactive with wat...
Page 1. Energy & Fuels 1993, 7, 1141-1145 1141 Correlation between Arrhenius Kinetic Para... more Page 1. Energy & Fuels 1993, 7, 1141-1145 1141 Correlation between Arrhenius Kinetic Parameters in the Reaction of Different Carbon Materials with Oxygen Ana Cuesta, Amelia Martfnez-Alonso, and Juan M. D. Tasc6n' Instituto ...
Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of... more Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN-Lom (MIM 601455), HMSN-Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168). We have carried out genetic analyses in a series of 20 Spanish Gypsy families diagnosed with a demyelinating CMT disease compatible with an autosomal recessive trait. We found the p.R148X mutation in the N-myc downstream-regulated gene 1 gene to be responsible for the HMSN-Lom in four families and also possible linkage to the HMSN-Russe locus in three others. We have also studied the CMT4C locus because of the clinical similarities and showed that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene: p.R1109X in 20 out of 21 chromosomes and p.C737_P738delinsX in only one chromosome. Moreover, the SH3TC2 p.R1109X mutation is associated with a conserved haplotype and, therefore, may be a private founder mutation for the Gypsy population. Estimation of the allelic age revealed that the SH3TC2 p.R1109X mutation may have arisen about 225 years ago, probably as the consequence of a bottleneck.
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