The Experts below are selected from a list of 270 Experts worldwide ranked by ideXlab platform
Kathleen Freson - One of the best experts on this subject based on the ideXlab platform.
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pigo deficiency palmoplantar keratoderma and novel mutations
Orphanet Journal of Rare Diseases, 2017Co-Authors: Marie Morren, Jaak Jaeken, Gepke Visser, Isabelle I Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Kathleen FresonAbstract:Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and Hyperphosphatasemia. Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, Hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.
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PIGO deficiency: palmoplantar keratoderma and novel mutations
Orphanet Journal of Rare Diseases, 2017Co-Authors: Marie Morren, Jaak Jaeken, Gepke Visser, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Isabelle Salles, Kathleen FresonAbstract:Background Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and Hyperphosphatasemia. Methods Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, Hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Results Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. Conclusion A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.
Ilenia Simeoni - One of the best experts on this subject based on the ideXlab platform.
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pigo deficiency palmoplantar keratoderma and novel mutations
Orphanet Journal of Rare Diseases, 2017Co-Authors: Marie Morren, Jaak Jaeken, Gepke Visser, Isabelle I Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Kathleen FresonAbstract:Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and Hyperphosphatasemia. Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, Hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.
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PIGO deficiency: palmoplantar keratoderma and novel mutations
Orphanet Journal of Rare Diseases, 2017Co-Authors: Marie Morren, Jaak Jaeken, Gepke Visser, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Isabelle Salles, Kathleen FresonAbstract:Background Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and Hyperphosphatasemia. Methods Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, Hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Results Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. Conclusion A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.
Ernest Turro - One of the best experts on this subject based on the ideXlab platform.
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pigo deficiency palmoplantar keratoderma and novel mutations
Orphanet Journal of Rare Diseases, 2017Co-Authors: Marie Morren, Jaak Jaeken, Gepke Visser, Isabelle I Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Kathleen FresonAbstract:Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and Hyperphosphatasemia. Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, Hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.
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PIGO deficiency: palmoplantar keratoderma and novel mutations
Orphanet Journal of Rare Diseases, 2017Co-Authors: Marie Morren, Jaak Jaeken, Gepke Visser, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Isabelle Salles, Kathleen FresonAbstract:Background Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and Hyperphosphatasemia. Methods Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, Hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Results Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. Conclusion A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.
Marie Morren - One of the best experts on this subject based on the ideXlab platform.
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pigo deficiency palmoplantar keratoderma and novel mutations
Orphanet Journal of Rare Diseases, 2017Co-Authors: Marie Morren, Jaak Jaeken, Gepke Visser, Isabelle I Salles, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Kathleen FresonAbstract:Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and Hyperphosphatasemia. Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, Hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.
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PIGO deficiency: palmoplantar keratoderma and novel mutations
Orphanet Journal of Rare Diseases, 2017Co-Authors: Marie Morren, Jaak Jaeken, Gepke Visser, Chris Van Geet, Ilenia Simeoni, Ernest Turro, Isabelle Salles, Kathleen FresonAbstract:Background Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and Hyperphosphatasemia. Methods Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, Hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. Results Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy’s father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. Conclusion A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed.
Roger J. Panciera - One of the best experts on this subject based on the ideXlab platform.
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Hyperphosphatasemia and concurrent adrenal gland dysfunction in apparently healthy Scottish Terriers
Journal of the American Veterinary Medical Association, 2010Co-Authors: Kurt L. Zimmerman, David L. Panciera, Roger J. Panciera, Jack W. Oliver, Walter E. Hoffmann, Ellen M. Binder, Daniel C. Randall, Joseph H. KinnarneyAbstract:Objective—To determine causes of Hyperphosphatasemia (high serum alkaline phosphatase [ALP] activity) in apparently healthy Scottish Terriers. Design—Prospective case-controlled study. Animals—34 apparently healthy adult Scottish Terriers (17 with and 17 without Hyperphosphatasemia). Procedures—Serum activities for 3 isoforms (bone, liver, and corticosteroid) of ALP were measured. Concentrations of cortisol, progesterone, 17-hydroxyprogesterone, androstenedione, estradiol, and aldosterone were measured before and after cosyntropin administration (ie, ACTH; 5 μg/kg [2.27 μg/lb], IM). Liver biopsy specimens from 16 dogs (11 with and 5 without Hyperphosphatasemia) were evaluated histologically. Results—In dogs with Hyperphosphatasemia, the corticosteroid ALP isoform comprised a significantly higher percentage of total ALP activity, compared with the percentage in dogs without Hyperphosphatasemia (mean ± SE, 69 ± 5.0% and 17 ± 3.8%, respectively). In 6 dogs with Hyperphosphatasemia, but none without, serum co...
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Hyperphosphatasemia in Scottish Terriers: 7 Cases
Journal of veterinary internal medicine, 2006Co-Authors: Aiexander E. Gallagher, David L. Panciera, Roger J. PancieraAbstract:Increased serum alkaline phosphatase (ALKP) activity in dogs is commonly encountered. In the study reported here, 7 Scottish Terriers were identified with Hyperphosphatasemia, for which a cause could not be determined. The clinicopathologic findings of the syndrome are described and correlated with hepatic pathologic changes in biopsy specimens and in specimens obtained at postmortem examination. Five of the 7 dogs were related. The ALKP activity ranged from 1.7 to 17 times the reference value at the time of biopsy. Increased ALKP activity was present for >6 months in 2 dogs and >12 months in 5 dogs; activity was > 1,000 U/L for at least 1 measurement in 5 dogs. Results of liver function testing, adrenocortical function testing, and hepatic ultrasonography were reviewed. Results of histological examination were normal in 6 dogs. One dog had regional, chronic cholangitis without evidence of cholestasis. The lesion was judged unlikely to account for the degree of Hyperphosphatasemia. This study provides evidence of possible benign Hyperphosphatasemia in Scottish Terriers or of another familial disorder causing asymptomatical Hyperphosphatasemia without corresponding histopathological abnormalities in the liver. Prospective studies of ALKP isoenzyme characterization, investigation of skeletal integrity, evaluation of additional related dogs to determine prevalence, and longer follow-up evaluation are necessary to better characterize this finding.