Готові списки джерел за темами / Leigh's Syndrome, French Canadian variant

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Добірка наукової літератури з теми "Leigh's Syndrome, French Canadian variant"

Автор: Grafiati
Опубліковано: 4 червня 2021
Оновлено: 15 лютого 2022

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Статті в журналах з теми "Leigh's Syndrome, French Canadian variant"

1

Kotecha, Shrinal, and Venkatesh Kairamkonda. "Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome." BMJ Case Reports 12, no. 7 (2019): e229668. http://dx.doi.org/10.1136/bcr-2019-229668.

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Анотація:
A term girl infant delivered following foetal distress presented with early respiratory distress syndrome and lactic acidaemia. She subsequently underwent detailed investigation for primary lactic acidaemia and was identified as homozygous for the c.515A>G,p.(Tyr172Cys) missense variant in theLRPPRCgene. Variants in this gene are known to cause French-Canadian type Leigh syndrome. Both parents were confirmed to be heterozygous for this mutation. This is the first case report of mitochondrial respiratory chain complex IV deficiency presenting as foetal distress and neonatal respiratory distr
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2

Cooper, M. P., L. Qu, L. M. Rohas, et al. "Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1 /LRP130 complex." Genes & Development 20, no. 21 (2006): 2996–3009. http://dx.doi.org/10.1101/gad.1483906.

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3

Arun, Vedant, Joseph C. Wiley, Harpreet Kaur, David R. Kaplan, and Abhijit Guha. "A novel neurofibromin (NF1) interaction with the leucine-rich pentatricopeptide repeat motif-containing protein links neurofibromatosis type 1 and the french canadian variant of leigh's syndrome in a common molecular complex." Journal of Neuroscience Research 91, no. 4 (2013): 494–505. http://dx.doi.org/10.1002/jnr.23189.

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4

Sasarman, Florin, Catherine Brunel-Guitton, Hana Antonicka, Timothy Wai, and Eric A. Shoubridge. "LRPPRC and SLIRP Interact in a Ribonucleoprotein Complex That Regulates Posttranscriptional Gene Expression in Mitochondria." Molecular Biology of the Cell 21, no. 8 (2010): 1315–23. http://dx.doi.org/10.1091/mbc.e10-01-0047.

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Анотація:
Mutations in LRPPRC are responsible for the French Canadian variant of Leigh syndrome (LSFC), a neurodegenerative disorder caused by a tissue-specific deficiency in cytochrome c oxidase (COX). To investigate the pathogenic mechanism of disease, we studied LRPPRC function in LSFC and control fibroblasts. The level of mutated LRPPRC is reduced in LSFC cells, and this results in decreased steady-state levels of most mitochondrial mRNAs, but not rRNAs or tRNAs, a phenotype that can be reproduced by siRNA-mediated knockdown of LRPPRC in control cells. Processing of the primary transcripts appears n
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5

XU, Fenghao, Charles MORIN, Grant MITCHELL, Cameron ACKERLEY, and Brian H. ROBINSON. "The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA." Biochemical Journal 382, no. 1 (2004): 331–36. http://dx.doi.org/10.1042/bj20040469.

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Анотація:
Leigh syndrome French Canadian (LSFC) is a variant of cytochrome oxidase deficiency found in Québec and caused by mutations in the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene. Northern blots showed that the LRPPRC mRNA levels seen in skeletal muscle>heart>placenta>kidney>liver>lung=brain were proportionally almost opposite in strength to the severity of the enzymic cytochrome oxidase defect. The levels of COX (cytochrome c oxidase) I and COX III mRNA visible on Northern blots were reduced in LSFC patients due to the common (A354V, Ala354→Val) founder mutation. T
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6

Mu, Weiyi, Laura Tochen, Caroline Bertsch, Harvey S. Singer, and Kristin W. Barañano. "Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1." BMJ Case Reports 12, no. 5 (2019): e228782. http://dx.doi.org/10.1136/bcr-2018-228782.

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Анотація:
Several genes located within the chromosome 8p11.21 region are associated with movement disorders including SLC20A2 and THAP1. SLC20A2 is one of four genes associated with primary familial brain calcification, a syndrome that also includes movement disorders, cognitive decline and psychiatric issues. THAP1 is associated with dystonia type 6, a dominantly inherited dystonia with variable expression. In addition, several reports in the French-Canadian population have described microdeletions within the 8p11.2 region presenting with dystonia-plus syndromes including brain calcifications. This cas
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7

Bourdeau, Isabelle, Sylvie Oble, Fabien Magne та ін. "ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia". European Journal of Endocrinology 174, № 1 (2016): 85–96. http://dx.doi.org/10.1530/eje-15-0642.

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Анотація:
BackgroundBilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing's syndrome (CS) and its familial clustering has been described previously. Recent studies identified that ARMC5 mutations occur frequently in BMAH, but the relation between ARMC5 mutation and the expression of aberrant G-protein-coupled receptor has not been examined in detail yet.MethodsWe studied a large French-Canadian family with BMAH and sub-clinical or overt CS. Screening was performed using the 1-mg dexamethasone suppression test (DST) in 28 family members. Screening for aberrant regulation of cortiso
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8

Fenaux, Martijn, Patrick G. Halbur, Mike Gill, Thomas E. Toth, and Xiang-Jin Meng. "Genetic Characterization of Type 2 Porcine Circovirus (PCV-2) from Pigs with Postweaning Multisystemic Wasting Syndrome in Different Geographic Regions of North America and Development of a Differential PCR-Restriction Fragment Length Polymorphism Assay To Detect and Differentiate between Infections with PCV-1 and PCV-2." Journal of Clinical Microbiology 38, no. 7 (2000): 2494–503. http://dx.doi.org/10.1128/jcm.38.7.2494-2503.2000.

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Анотація:
Postweaning multisystemic wasting syndrome (PMWS) is an emerging disease in swine. Increasing evidence indicates that a variant strain of porcine circovirus (PCV), designated type 2 PCV (PCV-2), is responsible for PMWS. To determine the extent of genetic heterogeneity of PCV-2 isolates, the complete genomes of six PCV-2 isolates from different regions of North America were amplified by PCR and sequenced. Sequence and phylogenetic analyses confirmed that two distinct genotypes of PCV exist: nonpathogenic genotype PCV-1 and PMWS-associated genotype PCV-2. However, within the PCV-2 genotype, seve
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9

Piro, Ettore, Gregorio Serra, Vincenzo Antona, et al. "Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient." Italian Journal of Pediatrics 46, no. 1 (2020). http://dx.doi.org/10.1186/s13052-020-00903-7.

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Анотація:
Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing (LRPPRC). It is an autosomal recessive neurogenetic OXPHOS disorder, phenotypically distinct from other types of Leigh syndrome, with a carrier frequency up to 1:23 and an incidence of 1:2063 in the Saguenay-Lac-St Jean region of Quebec. Recently, LSFC has also been
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10

Moisan, Lina, David Iannuzzi, Bruno Maranda, Philippe M. Campeau, and John J. Mitchell. "Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study." Orphanet Journal of Rare Diseases 15, no. 1 (2020). http://dx.doi.org/10.1186/s13023-020-01545-y.

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Анотація:
Abstract Background Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden. Quebec, Canada has a large Morquio A population, which is considered unique due to the presence of founder pathogenic variants. The objectives of this study were to document the genetic and clinical heterogeneity of patients with Morquio A in Quebec, to better characterize the phenotype of those with the French Canadian founder pathogenic variant (NM_000512.5: c.1171A>G, p.Met391Val), and to describe the natural history of the pat
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Дисертації з теми "Leigh's Syndrome, French Canadian variant"

1

Arun, Vedant. "Validation and Functional Characterization of Novel Neurofibromin Interacting Proteins." Thesis, 2013. http://hdl.handle.net/1807/35166.

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Анотація:
Neurofibromin (NF1) is a 2,818aa protein encoded by the very large NF1 tumour suppressor gene located on chromosome 17q11.2. Loss of function mutations and deletions in NF1 underlie Neurofibromatosis type-1 (NF-1) - the most common inherited syndrome of the nervous system in humans with a birth incidence of 1:3,000. The most visible feature of NF-1 is the neoplastic manifestations known as neurofibromas, however, the syndrome is also characterized by pigmentary defects, peripheral motor dysfunction, learning disabilities and several developmental abnormalities. The molecular etiology of many
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