Results 51 to 60 of about 718 (127)

Genetically determined diseases of the Simmental cattle breed: Modern challenges and prospects of breeding (review)

Siberian Journal of Life Sciences and Agriculture
Background. The intensification of livestock production and the use of a limited number of highly valuable sires lead to the accumulation of lethal mutations and hereditary abnormalities in cattle populations.
Natalia A. Bezborodova, Olga V. Sokolova, Anatoly V. Zverev, Nikolai A. Martynov, Egor V. Romanov, Chulpan R. Yusupova, Olga S. Zaitseva, Anastasia M. Shapovalova   +7 more
doaj   +1 more source

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 598-623, July 2024.
Abstract Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute ...
Bernd C. Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout   +11 more
wiley   +1 more source

Genome‐wide association studies for diarrhoea outcomes identified genomic regions affecting resistance to a severe enteropathy in suckling rabbits

Journal of Animal Breeding and Genetics, Volume 141, Issue 3, Page 328-342, May 2024.
Abstract Selection and breeding strategies to improve resistance to enteropathies are essential to reaching the sustainability of the rabbit production systems. However, disease heterogeneity (having only as major visible symptom diarrhoea) and low disease heritability are two barriers for the implementation of these strategies. Diarrhoea condition can
Samuele Bovo, Anisa Ribani, Giuseppina Schiavo, Valeria Taurisano, Francesca Bertolini, Daniela Fornasini, Andrea Frabetti, Luca Fontanesi   +7 more
wiley   +1 more source

Molybdenum cofactor deficiency: Review of 12 cases (MoCD and review)

, 2013
Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic features and feeding difficulties.
YİŞ, ULUÇ, Topcu, Yasemin, Ichida, Kimiyoshi, Bayram, Erhan, Kurul, Semra Hiz, Cakmakci, HANDAN, Karakaya, Pakize   +6 more
core   +1 more source

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

, 2010
Sulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and essential for the detoxification of sulfite which results mainly from the catabolism of sulfur-containing amino acids. Decreased activity of this enzyme can either be due to mutations
GUNDUZ, Aysegul, Dantas Pinto, Kylvia Giselle, Rodrigues Funayama, Carolina Araujo, PINTO, Kylvia Giselle Dantas, Araujo Rodrigues Funayama, Carolina, Dos Santos, Leticia Yanasse, TASKIRAN, Emine, CAMELO JUNIOR, Jose Simon, TUYSUZ, Beyhan, LAM, Ching-Wan, SANTOS, Leticia Yanasse Dos, REISS, Jochen, FUNAYAMA, Carolina Araujo Rodrigues, TURCATO, Marlene de Fatima, Yanasse Dos Santos, Letícia, Sass, Jörn Oliver, KORKMAZ, Baris, SASS, Joern Oliver, YALCINKAYA, Cengiz, WALTER, Melanie, Fátima Turcato, Marlene de, De Fátima Turcato, Marlene, Saß, Jörn-Oliver, Baris Korkmaz, Beyhan Tuysuz, Yalcinkaya, C, José Simon Camelo Junior, Taskiran, E, Lam, CW, Aysegul Gunduz, Dantas Pinto, KG, Walter, M, Carolina Araujo Rodrigues Funayama, Cengiz Yalcinkaya, Marlene de Fátima Turcato, Jörn Oliver Sass, Gunduz, A, Melanie Walter, de Fátima Turcato, M, Ching-Wan Lam, Kylvia Giselle Dantas Pinto, Jochen Reiss, Sass, JO, Letícia Yanasse Dos Santos, Korkmaz, B, Araujo Rodrigues Funayama, C, Reiss, J, Camelo Junior, JS, Emine Taskiran, Tuysuz, B, Yanasse Dos Santos, L   +50 more
core   +1 more source

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients

, 2016
Molybdenum cofactor (MoCo) deficiency is a rare, autosomal-recessive disorder, mainly caused by mutations in MOCS1 (MoCo deficiency type A) or MOCS2 (MoCo deficiency type B) genes; the absence of active MoCo results in a deficiency in all MoCo-dependent ...
Metz, Imke, Hakroush, Samy, Smorag, Lukasz, Schwarz, Guenter, Brueck, Wolfgang, Jakubiczka-Smorag, Joanna, Santamaria-Araujo, Jose Angel, Kumar, Avadh, Burfeind, Peter, Reiss, Jochen   +9 more
core   +1 more source

Molybdenum Cofactor Deficiency Causing Neonatal Seizures and Global Developmental Delay [PDF]

, 2020
: Molybdenum cofactor deficiency is a rare degenerative brain disorder with autosomal recessive inheritance. It presents early in neonatal life with seizures, feeding difficulty and spasticity, sometimes misdiagnosed as neonatal hypoxic ischemic ...
Aziz, Sundal, Alvi, Javeria Raza, Sultan, Tipu   +2 more
core  

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

, 2010
Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase.
Gumus, Hakan, GAMZE POYRAZOĞLU, Poyrazoglu, Gamze, HAKAN GÜMÜŞ, Engelen, John, Dundar, Munis, Caglayan, Ahmet Okay, STIJN GHESQUIERE, AHMET OKAY ÇAĞLAYAN, MUNIS DUNDAR, Ichida, Kimiyoshi, Kumandas, Sefer, KIMIYOSHI ICHIDA, HÜSEYIN PER, Ghesquiere, Stijn, Kondolot, Meda, MEDA KONDOLOT, Per, HÜSEYİN, SEFER KUMANDAŞ, JOHN ENGELEN, Per, Hueseyin   +20 more
core   +1 more source

Analysis of the effects of MOCS1 (Molybendum cofactor 1) upregulation on longevity in the fruit fly Drosophila melanogaster.

, 2018
The purpose of this experiment was to test whether or not upregulating the MOCS1 gene in the fruit fly Drosophila melanogaster resulted in longer lifespan.
Lee, Michael, Thompson, Olivia
core  

Allele-specific expression and methylation analysis of genes with variable maternal placenta-specific gDMRs.

, 2016
(A) Allelic RT-PCR analysis for SH3BP2 and MOCS1 in placenta samples with bisulphite PCR and subcloning of the associated gDMR in the same biopsy.
Ana Monteagudo-Sánchez (3343796), Ivanela Kondova (341404), Enrique Vidal (716115), Isabel Iglesias-Platas (157423), Franck Court (157439), Tomas Marques-Bonet (2551216), Marta Sanchez-Delgado (823136), David Monk (24463), Ronald Bontrop (840663), Jose Medrano (3343790), Alex Martin-Trujillo (157427), Chiharu Tayama (393663), Maria Eugenia Poo-Llanillo (3343793), Carlos Simón (149919), Kazuhiko Nakabayashi (28677)   +14 more
core   +1 more source