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Your search keyword '"Chloe Shard"' showing total 2 results
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2 results on '"Chloe Shard"'

1. Rare copy number variation in cerebral palsy

Author

Andres Moreno-De-Luca, Christa Lese Martin, Chloe Shard, Gai L McMichael, Jozef Gecz, Evan E. Eichler, Alastair H. MacLennan, Santhosh Girirajan, Lam Son Nguyen, Jillian Nicholl, Eric Haan, and Catherine S. Gibson

Subjects
Adult, Male, rho GTP-Binding Proteins, Delta Catenin, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, DNA Copy Number Variations, endocrine system diseases, Population, Cell Cycle Proteins, Nerve Tissue Proteins, Biology, Bioinformatics, Article, Gene Frequency, Genetic linkage, Proto-Oncogene Proteins, Molecular genetics, mental disorders, Gene duplication, Genetics, medicine, Humans, Copy-number variation, education, Allele frequency, Genetics (clinical), Adaptor Proteins, Signal Transducing, Sequence Deletion, education.field_of_study, COP9 Signalosome Complex, Cerebral Palsy, Microfilament Proteins, Infant, Newborn, Infant, Catenins, Exons, Microarray Analysis, Human genetics, Cytoskeletal Proteins, Medical genetics, Female
Abstract

Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known. Fifty Caucasian families having children with CP were studied using two microarray designs. Potentially pathogenic, rare (

Published
2013

2. Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

Author

Nicola Specchio, Evelyn Douglas, Enzo Ranieri, Lynette G. Sadleir, Duyen H. Pham, Eric Haan, Jozef Gecz, Kim Hynes, Ingrid E. Scheffer, Chloe Shard, C Tan, Grant Buchanan, Raman Kumar, Cheryl Shoubridge, Samuel F. Berkovic, Renzo Guerrini, Christel Depienne, Damian Leach, Mark A. Corbett, Rikke S. Møller, Carla Marini, Jacinta M McMahon, Lam Son Nguyen, Paul Q. Thomas, Tan, Chuan, Shard, Chloe, Ranieri, Enzo, Hynes, Kim, and Gecz, Jozef

Subjects
Ganaxolone, Pregnanolone, Epilepsy, chemistry.chemical_compound, PCDH19-FE, Cluster Analysis, Gene Regulatory Networks, Age of Onset, Child, Genetics (clinical), allopregnanolone, General Medicine, Middle Aged, Cadherins, Phenotype, female, Child, Preschool, Hydroxyprostaglandin Dehydrogenases, Female, Signal Transduction, medicine.drug, Adult, medicine.medical_specialty, 3-Hydroxysteroid Dehydrogenases, Neuroactive steroid, Adolescent, Protocadherin, protocadherin 19, Biology, Young Adult, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Molecular Biology, Sexual differentiation, Gene Expression Profiling, Allopregnanolone, Aldo-Keto Reductase Family 1 Member C3, Infant, Newborn, Infant, Reproducibility of Results, Fibroblasts, medicine.disease, Protocadherins, Endocrinology, Gene Expression Regulation, chemistry, allopregnanolone deficiency, Mutation, Epilepsy syndromes, epilepsy
Abstract

usc Refereed/Peer-reviewed Protocadherin 19 (PCDH19) female limited epilepsy (PCDH19-FE; also known as epilepsy and mental retardation limited to females, EFMR; MIM300088) is an infantile onset epilepsy syndrome with or without intellectual disability (ID) and autism. We investigated transcriptomes of PCDH19-FE female and control primary skin fibroblasts, which are endowed to metabolize neurosteroid hormones. We identified a set of 94 significantly dysregulated genes in PCDH19-FE females. Intriguingly, 43 of the 94 genes (45.7%) showed gender-biased expression; enrichment of such genes was highly significant (P = 2.51E-47, two-tailed Fisher exact test). We further investigated the AKR1C1-3 genes, which encode crucial steroid hormone-metabolizing enzymes whose key products include allopregnanolone and estradiol. Both mRNA and protein levels of AKR1C3 were significantly decreased in PCDH19-FE patients. In agreement with this, the blood levels of allopregnanolone were also (P < 0.01) reduced. In conclusion, we show that the deficiency of neurosteroid allopregnanolone, one of the most potent GABA receptor modulators, may contribute to PCDH19-FE. Overall our findings provide evidence for a role of neurosteroids in epilepsy, ID and autism and create realistic opportunities for targeted therapeutic interventions.

Published
2015

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