Results 11 to 20 of about 97,051 (153)

Type 2 polysaccharide storage myopathy in Quarter Horses is a novel glycogen storage disease causing exertional rhabdomyolysis

Equine Veterinary Journal, Volume 55, Issue 4, Page 618-631, July 2023., 2023
Abstract Background Both type 1 (PSSM1) and type 2 polysaccharide storage myopathy (PSSM2) are characterised by aggregates of abnormal polysaccharide in skeletal muscle. Whereas the genetic basis for PSSM1 is known (R309H GYS1), the cause of PSSM2 in Quarter Horses (PSSM2‐QH) is unknown and glycogen concentrations not defined.
Stephanie J. Valberg, Zoë J. Williams, Carrie J. Finno, Abigail Schultz, Deborah Velez‐Irizarry, Marisa L. Henry, Keri Gardner, Jessica L. Petersen   +7 more
wiley   +1 more source

Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests

Equine Veterinary Journal, Volume 55, Issue 2, Page 230-238, March 2023., 2023
Abstract Background Genetic tests for variants in MYOT (P2; rs1138656462), FLNC (P3a; rs1139799323 or P3b; rs1142918816) and MYOZ3 (P4; rs1142544043) genes are offered commercially to diagnose myofibrillar myopathy (MFM) and type 2 polysaccharide storage myopathy (PSSM2) in Quarter Horses (QH).
Stephanie J. Valberg, Marisa L. Henry, Keely L. Herrick, Deborah Velez‐Irizarry, Carrie J. Finno, Jessica L. Petersen   +5 more
wiley   +1 more source

Housing Movements and the Politics of Worthiness in São Paulo

The Journal of Latin American and Caribbean Anthropology, Volume 26, Issue 2, Page 276-296, June 2021., 2021
Abstract Based on research with current and former housing activists in São Paulo, this article identifies the concept of “politics of worthiness” as central to the moral justification and technical legitimation of social movements. Attributions of worthiness have long upheld the relationship between institutionalized grassroots organizations and the ...
Moisés Kopper, Matthew A. Richmond
wiley   +1 more source

Removing the bad apples: A simple bioinformatic method to improve loci‐recovery in de novo RADseq data for non‐model organisms

Methods in Ecology and Evolution, Volume 12, Issue 5, Page 805-817, May 2021., 2021
Abstract The restriction site‐associated DNA (RADseq) family of protocols involves digesting DNA and sequencing the region flanking the cut site, thus providing a cost and time‐efficient way for obtaining thousands of genomic markers. However, when working with non‐model taxa with few genomic resources, optimization of RADseq wet‐lab and bioinformatic ...
José Cerca, Marius F. Maurstad, Nicolas C. Rochette, Angel G. Rivera‐Colón, Niraj Rayamajhi, Julian M. Catchen, Torsten H. Struck, Robert Freckleton   +7 more
wiley   +1 more source

Estudo das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro Study of C282Y, H63D and S65C mutations in the HFE gene in Brazilian patients with iron overload

Revista Brasileira de Hematologia e Hemoterapia, 2007
Hemocromatose é uma das doenças genéticas mais freqüentes no ser humano e uma das causas mais importantes de sobrecarga de ferro. Os objetivos deste estudo foram determinar a freqüência das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros ...
Rodolfo D. Cançado, Aline C. O. Guglielmi, Carmen S. V. Vergueiro, Ernani G. Rolim, Maria Stella Figueiredo, Carlos S. Chiattone   +5 more
doaj   +1 more source

Receptores acoplados à proteína G: implicações para a fisiologia e doenças endócrinas [PDF]

, 2001
The majority of polypeptide hormones and even extracellular calcium signal their target cells through G protein-coupled receptors (GPCRs). Recently, many mutations have been both identified and associated with several endocrine disorders, such as ...
Hauache, Omar M.
core   +3 more sources

Seleção de clones de figueira cv. roxo de Valinhos formados por gemas irradiadas

Revista Brasileira de Fruticultura, 2012
A figueira (Ficus carica L.), pertencente à família das Moráceas, constitui-se numa das mais importantes frutíferas cultivadas, elevando o Brasil à condição de décimo maior produtor e exportador de figos do mundo.
Maria Gabriela Fontanetti Rodrigues, Luiz de Souza Corrêa, Pedro Cesar dos Santos, Augusto Tulmann Neto   +3 more
doaj   +1 more source

Avaliação de seleções mutantes de figueira cv. Roxo-de-Valinhos Evaluation of fig mutant selections cv. Roxo-de-Valinhos

Revista Brasileira de Fruticultura, 2009
A figueira (Ficus carica L.), pertencente à família das Moráceas, constitui-se numa das mais importantes frutíferas cultivadas, elevando o Brasil à condição de décimo maior produtor e exportador de figos do mundo.
Maria Gabriela Fontanetti Rodrigues, Luiz de Souza Correa, Aparecida Conceição Boliani   +2 more
doaj   +1 more source

Primeiro registro documentado de melanismo em João-bobo Nystalus chacuru Vieillot, 1816 (Piciformes: Bucconidae)

Revista de Biologia Neotropical, 2023
O João-bobo (Nystalus chacuru) é uma espécie pertencente à família Bucconidae, tendo ampla distribuição  no território brasileiro, exceto em algumas regiões da Amazônia.
Gabriel Brutti
doaj  

Rett syndrome: clinical and molecular characterization of two Brazilian patients Síndrome de Rett: caracterização clínica e molecular de dois casos brasileiros

Arquivos de Neuro-Psiquiatria, 2007
BACKGROUND: Rett syndrome (RS) is recognized as a pan-ethnic condition. Since the identification of mutations in the MECP2 gene, more patients have been diagnosed, and a broad spectrum of phenotypes has been reported.
Andrea Stachon, Francisco Baptista Assumpção Jr, Salmo Raskin   +2 more
doaj   +1 more source