Výsledky vyhledávání - "Michael F Hammer"

Akademický článek

Variable patterns of mutation density among NaV1.1, NaV1.2 and NaV1.6 point to channel-specific functional differences associated with childhood epilepsy.

Autor: Alejandra C Encinas, Joseph C Watkins, Iris Arenas Longoria, J P Johnson, Michael F Hammer

Publikováno v: PLoS ONE, Vol 15, Iss 8, p e0238121 (2020)

Variants implicated in childhood epilepsy have been identified in all four voltage-gated sodium channels that initiate action potentials in the central nervous system. Previous research has focused on the functional effects of particular variants wit

Externí odkaz: https://doaj.org/article/d446e92b8d5540128825178e307e1f2c

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Akademický článek

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

Autor: Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hirose

Publikováno v: PLoS ONE, Vol 12, Iss 7, p e0180485 (2017)

Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among indivi

Externí odkaz: https://doaj.org/article/e20997224a6b444f814621a4fa7480b9

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Akademický článek

Autosomal resequence data reveal Late Stone Age signals of population expansion in sub-Saharan African foraging and farming populations.

Autor: Murray P Cox, David A Morales, August E Woerner, Jesse Sozanski, Jeffrey D Wall, Michael F Hammer

Publikováno v: PLoS ONE, Vol 4, Iss 7, p e6366 (2009)

BACKGROUND:A major unanswered question in the evolution of Homo sapiens is when anatomically modern human populations began to expand: was demographic growth associated with the invention of particular technologies or behavioral innovations by hunter

Externí odkaz: https://doaj.org/article/e1901f59aead42ab94f54f0bf4d83865

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Akademický článek

Sex-biased evolutionary forces shape genomic patterns of human diversity.

Autor: Michael F Hammer, Fernando L Mendez, Murray P Cox, August E Woerner, Jeffrey D Wall

Publikováno v: PLoS Genetics, Vol 4, Iss 9, p e1000202 (2008)

Comparisons of levels of variability on the autosomes and X chromosome can be used to test hypotheses about factors influencing patterns of genomic variation. While a tremendous amount of nucleotide sequence data from across the genome is now availab

Externí odkaz: https://doaj.org/article/db135b13a61248fe89bf350d98b599d3

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Akademický článek

Machine-learning approaches for classifying haplogroup from Y chromosome STR data.

Autor: Joseph Schlecht, Matthew E Kaplan, Kobus Barnard, Tatiana Karafet, Michael F Hammer, Nirav C Merchant

Publikováno v: PLoS Computational Biology, Vol 4, Iss 6, p e1000093 (2008)

Genetic variation on the non-recombining portion of the Y chromosome contains information about the ancestry of male lineages. Because of their low rate of mutation, single nucleotide polymorphisms (SNPs) are the markers of choice for unambiguously c

Externí odkaz: https://doaj.org/article/daeb5715912944faaa260e9e5a335912

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Akademický článek

Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants

Autor: Joshua B. Hack, Joseph C. Watkins, Michael F. Hammer

Publikováno v: Biology Open, Vol 13, Iss 4 (2024)

Externí odkaz: https://doaj.org/article/a78aba6b825b42bd8451cc4c181641ca

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Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus

Autor: Michael F. Hammer, Yanling Pan, Medhane Cumbay, Manuela Pendziwiat, Zaid Afawi, Hadassah Goldberg‐Stern, Laurel Johnstone, Ingo Helbig, Theodore R. Cummins

Publikováno v: Epilepsia. 63:1970-1980

Family members carrying the same SCN1A variant often exhibit differences in the clinical severity of epilepsy. This variable expressivity suggests that other factors aside from the primary sodium channel variant influence the clinical manifestation.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee1d501bf4e947eac11ac03d5a80ac0a
https://doi.org/10.1111/epi.17296

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SCN8A Epilepsy, Developmental Encephalopathy, and Related Disorders

Autor: Dinesh Talwar, Michael F. Hammer

Publikováno v: Pediatric Neurology. 122:76-83

Understanding the precise genetic -basis of disease is one of the critical developments in medicine in the twenty-first century. Genetic testing has revolutionized the diagnosis and treatment of neurological diseases in children. Whole-genome and who

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b377356a816f59b08cf18fd451a5815
https://doi.org/10.1016/j.pediatrneurol.2021.06.011

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