The Experts below are selected from a list of 57 Experts worldwide ranked by ideXlab platform
Kazunari Kaneko - One of the best experts on this subject based on the ideXlab platform.
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Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.
BMC nephrology, 2017Co-Authors: Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari KanekoAbstract:Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental Defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy. Besides the CNS, the affected child had remarkable right-side predominant eye-ball hypoplasia with bilateral anterior chamber dysgenesis (microcoria). Brain MRI revealed grossly normal development in the cerebrum, cerebellum, and brain stem. Auditory brainstem responses were bilaterally blunted, suggesting a Defective Auditory system. At autopsy, both kidneys were mildly atrophied with persistent fetal lobulation. Microscopic examination showed a diffuse global sclerosis. However, despite of the smaller size of glomeruli, the nephron number remained similar to that of the age-matched control. Whole-exome sequencing revealed that the affected child was compound heterozygous for novel truncating LAMB2 mutations: a 4-bp insertion (p.Gly1693Alafs*8) and a splicing donor-site substitution (c.1225 + 1G > A), presumably deleting the coiled-coil domains that form the laminin 5–2-1 heterotrimer complex. Our case represents a variation of Pierson syndrome that accompanies CNS with unilateral ocular hypoplasia. The average number but smaller glomeruli could reflect either mal-development or glomerulosclerosis. Heterogeneous clinical expression of LAMB2 Defects may associate with the difference in fetal β1 subtype compensation among affected tissues. Further study is necessary to evaluate incidence and features of Auditory Defect under LAMB2 deficiency.
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erratum to nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null lamb2 mutations
BMC Nephrology, 2017Co-Authors: Jiro Kin, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari KanekoAbstract:Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental Defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy. Besides the CNS, the affected child had remarkable right-side predominant eye-ball hypoplasia with bilateral anterior chamber dysgenesis (microcoria). Brain MRI revealed grossly normal development in the cerebrum, cerebellum, and brain stem. Auditory brainstem responses were bilaterally blunted, suggesting a Defective Auditory system. At autopsy, both kidneys were mildly atrophied with persistent fetal lobulation. Microscopic examination showed a diffuse global sclerosis. However, despite of the smaller size of glomeruli, the nephron number remained similar to that of the age-matched control. Whole-exome sequencing revealed that the affected child was compound heterozygous for novel truncating LAMB2 mutations: a 4-bp insertion (p.Gly1693Alafs*8) and a splicing donor-site substitution (c.1225 + 1G > A), presumably deleting the coiled-coil domains that form the laminin 5–2-1 heterotrimer complex. Our case represents a variation of Pierson syndrome that accompanies CNS with unilateral ocular hypoplasia. The average number but smaller glomeruli could reflect either mal-development or glomerulosclerosis. Heterogeneous clinical expression of LAMB2 Defects may associate with the difference in fetal β1 subtype compensation among affected tissues. Further study is necessary to evaluate incidence and features of Auditory Defect under LAMB2 deficiency.
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Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations
BMC, 2017Co-Authors: Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari KanekoAbstract:Abstract Background Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental Defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. Case Presentations An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy. Besides the CNS, the affected child had remarkable right-side predominant eye-ball hypoplasia with bilateral anterior chamber dysgenesis (microcoria). Brain MRI revealed grossly normal development in the cerebrum, cerebellum, and brain stem. Auditory brainstem responses were bilaterally blunted, suggesting a Defective Auditory system. At autopsy, both kidneys were mildly atrophied with persistent fetal lobulation. Microscopic examination showed a diffuse global sclerosis. However, despite of the smaller size of glomeruli, the nephron number remained similar to that of the age-matched control. Whole-exome sequencing revealed that the affected child was compound heterozygous for novel truncating LAMB2 mutations: a 4-bp insertion (p.Gly1693Alafs*8) and a splicing donor-site substitution (c.1225 + 1G > A), presumably deleting the coiled-coil domains that form the laminin 5–2-1 heterotrimer complex. Conclusions Our case represents a variation of Pierson syndrome that accompanies CNS with unilateral ocular hypoplasia. The average number but smaller glomeruli could reflect either mal-development or glomerulosclerosis. Heterogeneous clinical expression of LAMB2 Defects may associate with the difference in fetal β1 subtype compensation among affected tissues. Further study is necessary to evaluate incidence and features of Auditory Defect under LAMB2 deficiency
Gregory A. Brent - One of the best experts on this subject based on the ideXlab platform.
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Thyroid Hormone Receptor Gene Knockouts
Trends in endocrinology and metabolism: TEM, 1998Co-Authors: Jung-hsin Hsu, Gregory A. BrentAbstract:Abstract The thyroid hormone receptor genes, TRα and TRβ, differ in developmental expression and tissue distribution. TRβ knockout mice have goiter, elevated thyroid hormone and TSH levels, and a functional Auditory Defect. In contrast, mice with TRα 1/α2 inactivation have thyroid hypoplasia, low serum thyroid hormone levels, growth arrest and delayed small intestine maturation. Mice with selective TRα1 inactivation have apparent normal growth and development, but have bradycardia and reduced body temperature. The dramatic differences between these mice with TRβ and TRα gene inactivations indicate the differential function of these genes. The influence of these gene inactivations on thyroid-stimulating hormone regulation is central to the resulting phenotypes.
Edward J. Walsh - One of the best experts on this subject based on the ideXlab platform.
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The Influence of Thyroid Hormone Deficiency on the Development of Cochlear Nonlinearities
Journal of the Association for Research in Otolaryngology, 2008Co-Authors: Lei Song, Joann Mcgee, Edward J. WalshAbstract:It is well known that failure to treat severe congenital hypothyroidism leads to profound Auditory disability, and it has been suggested that an intracochlear Defect, or Defects, associated with the condition diminishes the efficacy of an active, physiologically vulnerable nonlinear transduction process commonly referred to as cochlear amplification. We address this question directly by tracking the development of threshold–frequency (tuning) curves and two-tone suppression in hypothyroid, Tshr mutant mice born to hypothyroid dams and comparing those findings with findings observed in euthyroid mice. Like sharp tuning, two-tone suppression is a product of transduction nonlinearity and is a useful indicator of the functional status of cochlear amplification. In contrast to euthyroid mice that acquire sharp tuning, normal two-tone suppression, and adultlike sensitivity by the end of the third postnatal week, as shown in earlier studies, hypothyroid mice remained grossly insensitive to sound throughout life. In addition, tuning was generally broad in hypothyroid mice, tuning curve “tips” were frequently missing, and two-tone suppression was rarely observed. However, unlike tip thresholds, tuning curve “tail” thresholds, a feature that reflects the functional status of passive elements of transduction, acquired normal values over a roughly 2-month postnatal time period. These observations collectively suggest that active transduction micromechanics, at least in the frequency region studied here, are profoundly affected by thyroid hormone and support speculation that abnormal outer hair cell function may be the cause of the primary, enduring peripheral Auditory Defect associated with profound, congenital hypothyroidism in the Tshr mutant mouse.
Yorika Nakano - One of the best experts on this subject based on the ideXlab platform.
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Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.
BMC nephrology, 2017Co-Authors: Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari KanekoAbstract:Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental Defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy. Besides the CNS, the affected child had remarkable right-side predominant eye-ball hypoplasia with bilateral anterior chamber dysgenesis (microcoria). Brain MRI revealed grossly normal development in the cerebrum, cerebellum, and brain stem. Auditory brainstem responses were bilaterally blunted, suggesting a Defective Auditory system. At autopsy, both kidneys were mildly atrophied with persistent fetal lobulation. Microscopic examination showed a diffuse global sclerosis. However, despite of the smaller size of glomeruli, the nephron number remained similar to that of the age-matched control. Whole-exome sequencing revealed that the affected child was compound heterozygous for novel truncating LAMB2 mutations: a 4-bp insertion (p.Gly1693Alafs*8) and a splicing donor-site substitution (c.1225 + 1G > A), presumably deleting the coiled-coil domains that form the laminin 5–2-1 heterotrimer complex. Our case represents a variation of Pierson syndrome that accompanies CNS with unilateral ocular hypoplasia. The average number but smaller glomeruli could reflect either mal-development or glomerulosclerosis. Heterogeneous clinical expression of LAMB2 Defects may associate with the difference in fetal β1 subtype compensation among affected tissues. Further study is necessary to evaluate incidence and features of Auditory Defect under LAMB2 deficiency.
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erratum to nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null lamb2 mutations
BMC Nephrology, 2017Co-Authors: Jiro Kin, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari KanekoAbstract:Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental Defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy. Besides the CNS, the affected child had remarkable right-side predominant eye-ball hypoplasia with bilateral anterior chamber dysgenesis (microcoria). Brain MRI revealed grossly normal development in the cerebrum, cerebellum, and brain stem. Auditory brainstem responses were bilaterally blunted, suggesting a Defective Auditory system. At autopsy, both kidneys were mildly atrophied with persistent fetal lobulation. Microscopic examination showed a diffuse global sclerosis. However, despite of the smaller size of glomeruli, the nephron number remained similar to that of the age-matched control. Whole-exome sequencing revealed that the affected child was compound heterozygous for novel truncating LAMB2 mutations: a 4-bp insertion (p.Gly1693Alafs*8) and a splicing donor-site substitution (c.1225 + 1G > A), presumably deleting the coiled-coil domains that form the laminin 5–2-1 heterotrimer complex. Our case represents a variation of Pierson syndrome that accompanies CNS with unilateral ocular hypoplasia. The average number but smaller glomeruli could reflect either mal-development or glomerulosclerosis. Heterogeneous clinical expression of LAMB2 Defects may associate with the difference in fetal β1 subtype compensation among affected tissues. Further study is necessary to evaluate incidence and features of Auditory Defect under LAMB2 deficiency.
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Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations
BMC, 2017Co-Authors: Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari KanekoAbstract:Abstract Background Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental Defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. Case Presentations An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy. Besides the CNS, the affected child had remarkable right-side predominant eye-ball hypoplasia with bilateral anterior chamber dysgenesis (microcoria). Brain MRI revealed grossly normal development in the cerebrum, cerebellum, and brain stem. Auditory brainstem responses were bilaterally blunted, suggesting a Defective Auditory system. At autopsy, both kidneys were mildly atrophied with persistent fetal lobulation. Microscopic examination showed a diffuse global sclerosis. However, despite of the smaller size of glomeruli, the nephron number remained similar to that of the age-matched control. Whole-exome sequencing revealed that the affected child was compound heterozygous for novel truncating LAMB2 mutations: a 4-bp insertion (p.Gly1693Alafs*8) and a splicing donor-site substitution (c.1225 + 1G > A), presumably deleting the coiled-coil domains that form the laminin 5–2-1 heterotrimer complex. Conclusions Our case represents a variation of Pierson syndrome that accompanies CNS with unilateral ocular hypoplasia. The average number but smaller glomeruli could reflect either mal-development or glomerulosclerosis. Heterogeneous clinical expression of LAMB2 Defects may associate with the difference in fetal β1 subtype compensation among affected tissues. Further study is necessary to evaluate incidence and features of Auditory Defect under LAMB2 deficiency
Hiroyasu Tsukaguchi - One of the best experts on this subject based on the ideXlab platform.
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Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.
BMC nephrology, 2017Co-Authors: Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari KanekoAbstract:Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental Defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy. Besides the CNS, the affected child had remarkable right-side predominant eye-ball hypoplasia with bilateral anterior chamber dysgenesis (microcoria). Brain MRI revealed grossly normal development in the cerebrum, cerebellum, and brain stem. Auditory brainstem responses were bilaterally blunted, suggesting a Defective Auditory system. At autopsy, both kidneys were mildly atrophied with persistent fetal lobulation. Microscopic examination showed a diffuse global sclerosis. However, despite of the smaller size of glomeruli, the nephron number remained similar to that of the age-matched control. Whole-exome sequencing revealed that the affected child was compound heterozygous for novel truncating LAMB2 mutations: a 4-bp insertion (p.Gly1693Alafs*8) and a splicing donor-site substitution (c.1225 + 1G > A), presumably deleting the coiled-coil domains that form the laminin 5–2-1 heterotrimer complex. Our case represents a variation of Pierson syndrome that accompanies CNS with unilateral ocular hypoplasia. The average number but smaller glomeruli could reflect either mal-development or glomerulosclerosis. Heterogeneous clinical expression of LAMB2 Defects may associate with the difference in fetal β1 subtype compensation among affected tissues. Further study is necessary to evaluate incidence and features of Auditory Defect under LAMB2 deficiency.
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erratum to nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null lamb2 mutations
BMC Nephrology, 2017Co-Authors: Jiro Kin, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari KanekoAbstract:Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental Defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy. Besides the CNS, the affected child had remarkable right-side predominant eye-ball hypoplasia with bilateral anterior chamber dysgenesis (microcoria). Brain MRI revealed grossly normal development in the cerebrum, cerebellum, and brain stem. Auditory brainstem responses were bilaterally blunted, suggesting a Defective Auditory system. At autopsy, both kidneys were mildly atrophied with persistent fetal lobulation. Microscopic examination showed a diffuse global sclerosis. However, despite of the smaller size of glomeruli, the nephron number remained similar to that of the age-matched control. Whole-exome sequencing revealed that the affected child was compound heterozygous for novel truncating LAMB2 mutations: a 4-bp insertion (p.Gly1693Alafs*8) and a splicing donor-site substitution (c.1225 + 1G > A), presumably deleting the coiled-coil domains that form the laminin 5–2-1 heterotrimer complex. Our case represents a variation of Pierson syndrome that accompanies CNS with unilateral ocular hypoplasia. The average number but smaller glomeruli could reflect either mal-development or glomerulosclerosis. Heterogeneous clinical expression of LAMB2 Defects may associate with the difference in fetal β1 subtype compensation among affected tissues. Further study is necessary to evaluate incidence and features of Auditory Defect under LAMB2 deficiency.
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Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations
BMC, 2017Co-Authors: Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari KanekoAbstract:Abstract Background Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental Defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. Case Presentations An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy. Besides the CNS, the affected child had remarkable right-side predominant eye-ball hypoplasia with bilateral anterior chamber dysgenesis (microcoria). Brain MRI revealed grossly normal development in the cerebrum, cerebellum, and brain stem. Auditory brainstem responses were bilaterally blunted, suggesting a Defective Auditory system. At autopsy, both kidneys were mildly atrophied with persistent fetal lobulation. Microscopic examination showed a diffuse global sclerosis. However, despite of the smaller size of glomeruli, the nephron number remained similar to that of the age-matched control. Whole-exome sequencing revealed that the affected child was compound heterozygous for novel truncating LAMB2 mutations: a 4-bp insertion (p.Gly1693Alafs*8) and a splicing donor-site substitution (c.1225 + 1G > A), presumably deleting the coiled-coil domains that form the laminin 5–2-1 heterotrimer complex. Conclusions Our case represents a variation of Pierson syndrome that accompanies CNS with unilateral ocular hypoplasia. The average number but smaller glomeruli could reflect either mal-development or glomerulosclerosis. Heterogeneous clinical expression of LAMB2 Defects may associate with the difference in fetal β1 subtype compensation among affected tissues. Further study is necessary to evaluate incidence and features of Auditory Defect under LAMB2 deficiency