The Experts below are selected from a list of 174 Experts worldwide ranked by ideXlab platform
Vorasuk Shotelersuk - One of the best experts on this subject based on the ideXlab platform.
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PTPRF is disrupted in a patient with syndromic amastia.
BMC medical genetics, 2011Co-Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk ShotelersukAbstract:Background The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal aGenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytoGenetic features, we successfully identified the Interrupted Gene and studied its consequences.
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PTPRF is disrupted in a patient with syndromic amastia
BMC Medical Genetics, 2011Co-Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk ShotelersukAbstract:Background The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal aGenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytoGenetic features, we successfully identified the Interrupted Gene and studied its consequences. Methods Characterization of the breakpoints was performed by molecular cytoGenetic techniques. The Interrupted Gene was further analyzed using quantitative real-time PCR and western blotting. Mutation analysis and high-density SNP array were carried out in order to find a pathogenic mutation. Allele segregations were obtained by haplotype analysis. Results We enabled to identify its breakpoint on chromosome 1 interrupting the protein tyrosine receptor type F Gene ( PTPRF ). While the patient's mother and sisters also harbored the translocated chromosome, their non-translocated chromosomes 1 were different from that of the patient. Although a definite pathogenic mutation on the paternal allele could not be identified, PTPRF 's RNA and protein of the patient were significantly less than those of her unaffected family members. Conclusions Although ptprf has been shown to involve in murine mammary gland development, no evidence has incorporated PTPRF in human organ development. We, for the first time, demonstrated the possible association of PTPRF with syndromic amastia, making it a prime candidate to investigate for its spatial and temporal roles in human breast development.
Claudia Piccini - One of the best experts on this subject based on the ideXlab platform.
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An iron-regulated outer-membrane protein of Proteus mirabilis is a haem receptor that plays an important role in urinary tract infection and in in vivo growth.
Journal of Medical Microbiology, 2007Co-Authors: Analía Lima, Pablo Zunino, Bruno D’alessandro, Claudia PicciniAbstract:Proteus mirabilis, a common cause of urinary tract infections, expresses iron-regulated outer-membrane proteins (OMPs) in response to iron restriction. It has been suggested that a 64 kDa OMP is involved in haemoprotein uptake and that this might have a role in pathoGenesis. In order to confirm this hypothesis, this study Generated a P. mirabilis mutant strain (P7) that did not express the 64 kDa OMP, by insertion of the TnphoA transposon. The nucleotide sequence of the Interrupted Gene revealed that it corresponded to a haemin receptor precursor. Moreover, in vitro growth assays showed that the mutant was unable to grow using haemoglobin and haemin as unique iron sources. The authors also carried out in vivo growth and infectivity assays and demonstrated that P7 was not able to survive in an in vivo model and was less efficient than wild-type strain Pr 6515 in colonizing the urinary tract. These results confirmed that the P. mirabilis 64 kDa iron-regulated OMP is a haem receptor that has an important role for survival and multiplication of these bacteria in the mammalian host and in the development of urinary tract infection.
Surasawadee Ausavarat - One of the best experts on this subject based on the ideXlab platform.
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PTPRF is disrupted in a patient with syndromic amastia.
BMC medical genetics, 2011Co-Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk ShotelersukAbstract:Background The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal aGenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytoGenetic features, we successfully identified the Interrupted Gene and studied its consequences.
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PTPRF is disrupted in a patient with syndromic amastia
BMC Medical Genetics, 2011Co-Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk ShotelersukAbstract:Background The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal aGenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytoGenetic features, we successfully identified the Interrupted Gene and studied its consequences. Methods Characterization of the breakpoints was performed by molecular cytoGenetic techniques. The Interrupted Gene was further analyzed using quantitative real-time PCR and western blotting. Mutation analysis and high-density SNP array were carried out in order to find a pathogenic mutation. Allele segregations were obtained by haplotype analysis. Results We enabled to identify its breakpoint on chromosome 1 interrupting the protein tyrosine receptor type F Gene ( PTPRF ). While the patient's mother and sisters also harbored the translocated chromosome, their non-translocated chromosomes 1 were different from that of the patient. Although a definite pathogenic mutation on the paternal allele could not be identified, PTPRF 's RNA and protein of the patient were significantly less than those of her unaffected family members. Conclusions Although ptprf has been shown to involve in murine mammary gland development, no evidence has incorporated PTPRF in human organ development. We, for the first time, demonstrated the possible association of PTPRF with syndromic amastia, making it a prime candidate to investigate for its spatial and temporal roles in human breast development.
Analía Lima - One of the best experts on this subject based on the ideXlab platform.
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An iron-regulated outer-membrane protein of Proteus mirabilis is a haem receptor that plays an important role in urinary tract infection and in in vivo growth.
Journal of Medical Microbiology, 2007Co-Authors: Analía Lima, Pablo Zunino, Bruno D’alessandro, Claudia PicciniAbstract:Proteus mirabilis, a common cause of urinary tract infections, expresses iron-regulated outer-membrane proteins (OMPs) in response to iron restriction. It has been suggested that a 64 kDa OMP is involved in haemoprotein uptake and that this might have a role in pathoGenesis. In order to confirm this hypothesis, this study Generated a P. mirabilis mutant strain (P7) that did not express the 64 kDa OMP, by insertion of the TnphoA transposon. The nucleotide sequence of the Interrupted Gene revealed that it corresponded to a haemin receptor precursor. Moreover, in vitro growth assays showed that the mutant was unable to grow using haemoglobin and haemin as unique iron sources. The authors also carried out in vivo growth and infectivity assays and demonstrated that P7 was not able to survive in an in vivo model and was less efficient than wild-type strain Pr 6515 in colonizing the urinary tract. These results confirmed that the P. mirabilis 64 kDa iron-regulated OMP is a haem receptor that has an important role for survival and multiplication of these bacteria in the mammalian host and in the development of urinary tract infection.
Charan Mahatumarat - One of the best experts on this subject based on the ideXlab platform.
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PTPRF is disrupted in a patient with syndromic amastia.
BMC medical genetics, 2011Co-Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk ShotelersukAbstract:Background The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal aGenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytoGenetic features, we successfully identified the Interrupted Gene and studied its consequences.
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PTPRF is disrupted in a patient with syndromic amastia
BMC Medical Genetics, 2011Co-Authors: Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C. Markello, William A. Gahl, Kanya Suphapeetiporn, Vorasuk ShotelersukAbstract:Background The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal aGenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytoGenetic features, we successfully identified the Interrupted Gene and studied its consequences. Methods Characterization of the breakpoints was performed by molecular cytoGenetic techniques. The Interrupted Gene was further analyzed using quantitative real-time PCR and western blotting. Mutation analysis and high-density SNP array were carried out in order to find a pathogenic mutation. Allele segregations were obtained by haplotype analysis. Results We enabled to identify its breakpoint on chromosome 1 interrupting the protein tyrosine receptor type F Gene ( PTPRF ). While the patient's mother and sisters also harbored the translocated chromosome, their non-translocated chromosomes 1 were different from that of the patient. Although a definite pathogenic mutation on the paternal allele could not be identified, PTPRF 's RNA and protein of the patient were significantly less than those of her unaffected family members. Conclusions Although ptprf has been shown to involve in murine mammary gland development, no evidence has incorporated PTPRF in human organ development. We, for the first time, demonstrated the possible association of PTPRF with syndromic amastia, making it a prime candidate to investigate for its spatial and temporal roles in human breast development.
