Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population

Autor: J. R. Connell, M. C. Benton, R. A. Lea, H. G. Sutherland, J. Chaseling, L. M. Haupt, K. M. Wright, L. R. Griffiths

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Abstract Estimates of mutation rates for various regions of the human mitochondrial genome (mtGenome) vary widely, depending on whether they are inferred using a phylogenetic approach or obtained directly from pedigrees. Traditionally, only the contr

Externí odkaz: https://doaj.org/article/937c0613cd31451e86e2c2570d8384a1

Investigating diagnostic sequencing techniques for CADASIL diagnosis

Autor: P. J. Dunn, N. Maksemous, R. A. Smith, H. G. Sutherland, L. M. Haupt, L. R. Griffiths

Publikováno v: Human Genomics, Vol 14, Iss 1, Pp 1-10 (2020)

Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Our laboratory has been undertaking genetic diagnostic testing fo

Externí odkaz: https://doaj.org/article/3a0e1e96f81c47cd97204a58fcae6d36

Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort

Autor: P. J. Dunn, N. R. Harvey, N. Maksemous, R. A. Smith, H. G. Sutherland, L. M. Haupt, L. R. Griffiths

Publikováno v: Molecular neurobiology. 59(9)

Monogenic forms of cerebral small vessel disease (CSVD) can be caused by both variants in nuclear DNA and mitochondrial DNA (mtDNA). Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is known to have a phenotype similar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::560d9597c23e519b299c0cd0dd4a8e1a
https://pubmed.ncbi.nlm.nih.gov/35699875

Notas Breves

Autor: Angela Noguerol Seoane, Silvia Calvo, Ignacio Bárbara, Ariadna Clavell, Lluis Polo, Santos Cirujano Bracamonte, Enrique Sánchez Gullón, Pablo García Murillo, Antonio Pulido Pastor, José López García, Francisco javier Cantero Desmartines, Henrique Nepumoceno Alves, Joao José Honrado, Francisco Barreto Caldas, Jesús Antonio Sánchez Rodríguez, María Jesús Elías Rivas, María Antonia Martín Marcos, María Mayol, Josep A. Rosello, Herminio S. Nava, María de los Ángeles Fernández Casado, Francisco Javier Suarez, María Jesús Gallego, Cyril H. Nelson Sutherland, Juan José Aldasoro, Carlos Aedo, Carmen Navarro, Llorenç Sáez, Roberto Roselló, Juan Bautista Peris, Gerardo Stübing, Modesto Luceño, Bernardo García Muñoz, Antonino González Canalejo, Gonzalo Mateo, Silvia López Udias, Carlos Fabregat, Pedro Sánchez Gómez, Ramón Morales, Joao Domingues de Almeida, Mario Sanz Elorza, Eduardo Sobrino Vesperinas, Antonio Galán de Mera, Marina Horjales, Nieves Redondo, Gemma Laso, Pilar Catalán, Victoria Mirones, Consuelo Cebolla, María Antonia Rivas Ponce, Águedo Marrero, Victor Montelongo, Jordi Vallverdú, A. Félix Carrillo López, Antonio Hernández González, M. Ángel Carrión Vilches, Jaime Güemes Heras, Luis Miguel Pérez, Sebastián Arévalo, Juan Antonio Devesa, Nicolas Lopez Jiménez, Emilio Blanco Castro, Vanda Miravent, David Draper, Antonia Rossello Graell, Cristina Tauleigne Gomes, Juan Antonio Campos Prieto, Mercedes Herrera Gallastegui, Feli Santiago Ibarlucea, Juan Luis Castillo, Ginés López González, Margarita Fernández Benito, Manuel Lainz S.J., Juan José Lastra, Matías Mayor

Publikováno v: Anales del Jardín Botánico de Madrid, Vol 57, Iss 2, Pp 393-452 (1999)

Externí odkaz: https://doaj.org/article/c25ba419ca9c47398444a3b1ff27b5e8

Oral but not intravenous glucose acutely decreases circulating interleukin-6 concentrations in overweight individuals.

Autor: Patrick J Manning, Wayne H F Sutherland, Sheila M Williams, Sylvia A de Jong, Gavin P Hendry

Publikováno v: PLoS ONE, Vol 8, Iss 6, p e66395 (2013)

BACKGROUND: Plasma interleukin-6 (IL-6) concentrations decrease acutely 1 h after ingestion of a glucose load or mixed meals and this may be mediated by an anti-inflammatory effect of insulin. The aim of the present study was to compare the effect of

Externí odkaz: https://doaj.org/article/e27942cfa89a4c6882257cd9b5ded2b0