The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
Shoko Horita - One of the best experts on this subject based on the ideXlab platform.
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slc4a4 compound heterozygous mutations in exon intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with turner s syndrome a case report
BMC Medical Genetics, 2018Co-Authors: Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito MizunoAbstract:Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and Band Keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons. We performed direct nucleotide sequencing analysis of exons and exon–intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs. The examination revealed compound heterozygous mutations in exon–intron boundary regions, c.1076 + 3A > C and c.1772 − 2A > T, neither of which have been reported previously. While the former mutation was found in the mother, the latter was found in the father. The transcript of the SLC4A4 gene was almost undetectable, and the patient was also diagnosed with Turner’s syndrome. We identified two novel SLC4A4 mutations, c.1076 + 3A > C and c.1772 − 2A > T. When presented in a compound heterozygous state, these mutations caused a phenotype of severe renal proximal tubular acidosis along with glaucoma and mental retardation. This is the first report of congenital proximal renal tubular acidosis carrying compound heterozygous SLC4A4 mutations in exon–intron boundary regions. We suggest that an mRNA surveillance mechanism, nonsense-mediated RNA decay, following aberrant splicing was the reason that the SLC4A4 transcript was almost undetectable in the proBand.
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SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report
'Springer Science and Business Media LLC', 2018Co-Authors: Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito MizunoAbstract:Abstract Background Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and Band Keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons. Case presentation We performed direct nucleotide sequencing analysis of exons and exon–intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs. The examination revealed compound heterozygous mutations in exon–intron boundary regions, c.1076 + 3A > C and c.1772 − 2A > T, neither of which have been reported previously. While the former mutation was found in the mother, the latter was found in the father. The transcript of the SLC4A4 gene was almost undetectable, and the patient was also diagnosed with Turner’s syndrome. Conclusions We identified two novel SLC4A4 mutations, c.1076 + 3A > C and c.1772 − 2A > T. When presented in a compound heterozygous state, these mutations caused a phenotype of severe renal proximal tubular acidosis along with glaucoma and mental retardation. This is the first report of congenital proximal renal tubular acidosis carrying compound heterozygous SLC4A4 mutations in exon–intron boundary regions. We suggest that an mRNA surveillance mechanism, nonsense-mediated RNA decay, following aberrant splicing was the reason that the SLC4A4 transcript was almost undetectable in the proBand
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functional roles of electrogenic sodium bicarbonate cotransporter nbce1 in ocular tissues
The Open Ophthalmology Journal, 2012Co-Authors: Masashi Suzuki, Shoko Horita, George Seki, Hideomi Yamada, Toshiro FujitaAbstract:Electrogenic Na+-HCO3- cotransporter NBCe1 is expressed in several tissues such as kidney, eye, and brain, where it may mediate distinct biological processes. In particular, NBCe1 in renal proximal tubules is essential for the regulation of systemic acid/base balance. On the other hand, NBCe1 in eye may be indispensable for the maintenance of tissue homeostasis. Consistent with this view, homozygous mutations in NBCe1 cause severe proximal renal tubular acidosis associated with ocular abnormalities such as Band Keratopathy, glaucoma, and cataract. The widespread expression of NBCe1 in eye suggests that the inactivation of NBCe1 per se may be responsible for the occurrence of these ocular abnormalities. In this review, we discuss about physiological and pathological roles of NBCe1 in eye.
Tomohito Mizuno - One of the best experts on this subject based on the ideXlab platform.
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slc4a4 compound heterozygous mutations in exon intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with turner s syndrome a case report
BMC Medical Genetics, 2018Co-Authors: Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito MizunoAbstract:Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and Band Keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons. We performed direct nucleotide sequencing analysis of exons and exon–intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs. The examination revealed compound heterozygous mutations in exon–intron boundary regions, c.1076 + 3A > C and c.1772 − 2A > T, neither of which have been reported previously. While the former mutation was found in the mother, the latter was found in the father. The transcript of the SLC4A4 gene was almost undetectable, and the patient was also diagnosed with Turner’s syndrome. We identified two novel SLC4A4 mutations, c.1076 + 3A > C and c.1772 − 2A > T. When presented in a compound heterozygous state, these mutations caused a phenotype of severe renal proximal tubular acidosis along with glaucoma and mental retardation. This is the first report of congenital proximal renal tubular acidosis carrying compound heterozygous SLC4A4 mutations in exon–intron boundary regions. We suggest that an mRNA surveillance mechanism, nonsense-mediated RNA decay, following aberrant splicing was the reason that the SLC4A4 transcript was almost undetectable in the proBand.
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SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report
'Springer Science and Business Media LLC', 2018Co-Authors: Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito MizunoAbstract:Abstract Background Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and Band Keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons. Case presentation We performed direct nucleotide sequencing analysis of exons and exon–intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs. The examination revealed compound heterozygous mutations in exon–intron boundary regions, c.1076 + 3A > C and c.1772 − 2A > T, neither of which have been reported previously. While the former mutation was found in the mother, the latter was found in the father. The transcript of the SLC4A4 gene was almost undetectable, and the patient was also diagnosed with Turner’s syndrome. Conclusions We identified two novel SLC4A4 mutations, c.1076 + 3A > C and c.1772 − 2A > T. When presented in a compound heterozygous state, these mutations caused a phenotype of severe renal proximal tubular acidosis along with glaucoma and mental retardation. This is the first report of congenital proximal renal tubular acidosis carrying compound heterozygous SLC4A4 mutations in exon–intron boundary regions. We suggest that an mRNA surveillance mechanism, nonsense-mediated RNA decay, following aberrant splicing was the reason that the SLC4A4 transcript was almost undetectable in the proBand
Michael G Anderson - One of the best experts on this subject based on the ideXlab platform.
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ketamine xylazine induced corneal damage in mice
PLOS ONE, 2015Co-Authors: Demelza Koehn, Kacie J Meyer, Nasreen A Syed, Michael G AndersonAbstract:Purpose We have observed that the commonly used ketamine/xylazine anesthesia mix can induce a focally severe and permanent corneal opacity. The purpose of this study was to establish the clinical and histological features of this deleterious side effect, its sensitivity with respect to age and anesthesia protocol, and approaches for avoiding it. Methods Young C57BL/6J, C57BLKS/J, and SJL/J mice were treated with permutations of anesthesia protocols and compared using slit-lamp exams, optical coherence tomography, histologic analyses, and telemetric measurements of body temperature. Results Ketamine/xylazine induces corneal damage in mice with a variable frequency. Among 12 experimental cohorts, corneal damage associated with ketamine/xylazine was observed in 9 of them. Despite various treatments to avoid corneal dehydration during anesthesia, the frequency of corneas experiencing damage among responding cohorts was 42% (26% inclusive of all cohorts), which is significantly greater than the natural prevalence (5%). The damage was consistent with Band Keratopathy. It appeared as a white or gray horizontal Band located proximal to the pupil and was positive for subepithelial calcium deposition with von Kossa stain. Conclusions The sum of our clinical and histological observations is consistent with ketamine/xylazine-induced Band Keratopathy in mice. This finding is relevant for mouse studies involving the eye and/or vision-dependent behavioral assays, which would both be prone to artifact without appreciation of the damage caused by ketamine/xylazine anesthesia. Use of yohimbine is suggested as a practical means of avoiding this complication.
Karin Dahan - One of the best experts on this subject based on the ideXlab platform.
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blau syndrome associated with a card15 nod2 mutation
American Journal of Ophthalmology, 2006Co-Authors: Bernadette Snyers, Karin DahanAbstract:PURPOSE: To report a new family with Blau syndrome caused by CARD15/NOD2 mutation. DESIGN: Observational case series. METHODS: Detailed clinical evaluation in three affected relatives with Blau syndrome. Haplotype and mutation analysis of the CARD15/NOD2 gene were performed. RESULTS: Ocular manifestations identified in the proBand include bilateral Band Keratopathy, cataract, iritis, vitritis and severe granulomatous choroidopathy. The mother and one brother of the proBand exhibit the same characteristic organ involvements of this disease. Haplotype analysis from the pericentromeric region on chromosome 16 identified a common haplotype in all affected relatives that is absent in unaffected relatives. Sequencing analysis revealed a heterozygous pathogenic mutation in the CARD15/NOD2 gene, the previously reported p.R334W substitution. CONCLUSION: Blau syndrome is a rare autosomal-dominant disease that can lead to severe visual impairment. The search of a CARD15/NOD2 mutation could be helpful in the differential diagnosis of childhood uveitis.
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Blau syndrome associated with a CARD15/NOD2 mutation.
American Journal of Ophthalmology, 2006Co-Authors: Bernadette Snyers, Karin DahanAbstract:PURPOSE: To report a new family with Blau syndrome caused by CARD15/NOD2 mutation. DESIGN: Observational case series. METHODS: Detailed clinical evaluation in three affected relatives with Blau syndrome. Haplotype and mutation analysis of the CARD15/NOD2 gene were performed. RESULTS: Ocular manifestations identified in the proBand include bilateral Band Keratopathy, cataract, iritis, vitritis and severe granulomatous choroidopathy. The mother and one brother of the proBand exhibit the same characteristic organ involvements of this disease. Haplotype analysis from the pericentromeric region on chromosome 16 identified a common haplotype in all affected relatives that is absent in unaffected relatives. Sequencing analysis revealed a heterozygous pathogenic mutation in the CARD15/NOD2 gene, the previously reported p.R334W substitution. CONCLUSION: Blau syndrome is a rare autosomal-dominant disease that can lead to severe visual impairment. The search of a CARD15/NOD2 mutation could be helpful in the differential diagnosis of childhood uveitis.
Toshiro Fujita - One of the best experts on this subject based on the ideXlab platform.
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functional roles of electrogenic sodium bicarbonate cotransporter nbce1 in ocular tissues
The Open Ophthalmology Journal, 2012Co-Authors: Masashi Suzuki, Shoko Horita, George Seki, Hideomi Yamada, Toshiro FujitaAbstract:Electrogenic Na+-HCO3- cotransporter NBCe1 is expressed in several tissues such as kidney, eye, and brain, where it may mediate distinct biological processes. In particular, NBCe1 in renal proximal tubules is essential for the regulation of systemic acid/base balance. On the other hand, NBCe1 in eye may be indispensable for the maintenance of tissue homeostasis. Consistent with this view, homozygous mutations in NBCe1 cause severe proximal renal tubular acidosis associated with ocular abnormalities such as Band Keratopathy, glaucoma, and cataract. The widespread expression of NBCe1 in eye suggests that the inactivation of NBCe1 per se may be responsible for the occurrence of these ocular abnormalities. In this review, we discuss about physiological and pathological roles of NBCe1 in eye.
