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Akademický článek

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Autor: Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

Abstract Background In diagnosis of rare genetic diseases we face a decision as to the degree to which the sequencing lab offers one or more diagnoses based on clinical input provided by the clinician, or the clinician reaches a diagnosis based on th

Externí odkaz: https://doaj.org/article/602ee97181f24459813280ff8f4b5023

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Akademický článek

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Autor: Camila A. B. Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel L. Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Ursula Thomé, Marcelo V. Santos, Fabiano P. Saggioro, Luciano Neder Serafini, Wilson A. Silva Jr, Joseph G. Gleeson, Hélio R. Machado

Publikováno v: Epilepsia Open, Vol 5, Iss 1, Pp 97-106 (2020)

Abstract Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular funct

Externí odkaz: https://doaj.org/article/1f3c6d7b09ea410daa70db74d4bc3c11

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Akademický článek

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene th

Externí odkaz: https://doaj.org/article/2b11aa05a4174343ac7596764303089f

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Akademický článek

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Autor: Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)

Abstract Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically unsolved. This prevents adequate counseling and clear recommendations in these families. W

Externí odkaz: https://doaj.org/article/4c768b28545c4e9c80d7adf8d44f46ec

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