thymine/atrophy

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Liver extract, folic acid, and thymine in pernicious anaemia and subacute combined degeneration.

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Ingia / Ingia

Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?

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Ingia / Ingia

We describe a boy of consanguineous parents who suffered from intractable diarrhoea due to congenital microvillous atrophy, a recessively inherited autosomal disorder. He developed severe cholestatis starting at 2 weeks of age and leading to liver cirrhosis. His psychomotor development appeared only

Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.

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Ingia / Ingia

We report a patient with sporadic amyotrophic lateral sclerosis (ALS) with a novel fusion in malignant liposarcoma (FUS) gene mutation whose neurological signs were conspicuous left-sided rigidity and apraxia. A novel heterozygous guanine (G)-to-thymine (T) transition at position 1392, c.1392G>T,

Polymerase recognition of synthetic oligodeoxyribonucleotides incorporating degenerate pyrimidine and purine bases.

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Ingia / Ingia

A universal base that is capable of substituting for any of the four natural bases in DNA would be of great utility in both mutagenesis and recombinant DNA experiments. This paper describes the properties of oligonucleotides incorporating two degenerate bases, the pyrimidine base

Specific degenerate codons enhanced selective expression of human parathyroid hormone in Escherichia coli.

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Ingia / Ingia

Specific degenerate codons in the amino-terminal region of a synthetic human parathyroid hormone (PTH) gene exerted dramatic effects on both products and yield of expression of this 84-amino acid polypeptide in Escherichia coli. With adenine-rich degenerate codons constituting the PTH-(1-5) region,

Tumor Necrosis Factor Gene Polymorphisms in Advanced Non-exudative Age-related Macular Degeneration.

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Ingia / Ingia

OBJECTIVE To investigate tumor necrosis factor (TNF)-α gene polymorphisms in advanced dry-type age-related macular degeneration (AMD) in a population from Northeastern Iran. METHODS In this case-control study, 50 patients with geographic macular atrophy and 73 gender-matched controls were enrolled.

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review.

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Ingia / Ingia

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the nuclear receptor subfamily 2 group F member 1 (NR2F1) gene. Its common features include optic atrophy and/or hypoplasia, developmental delay, intellectual disability,

Commentary on "Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review".

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Ingia / Ingia

NMR analysis of CYP1(HAP1) DNA binding domain-CYC1 upstream activation sequence interactions: recognition of a CGG trinucleotide and of an additional thymine 5 bp downstream by the zinc cluster and the N-terminal extremity of the protein.

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Ingia / Ingia

The DNA binding domain of the yeast transcriptional activator CYP1(HAP1) contains a zinc-cluster structure. The structures of the DNA binding domain-DNA complexes of two other zinc-cluster proteins (GAL4 and PPR1) have been studied by X-ray crystallography. Their binding domains present, besides the

Genes of the thymidine salvage pathway: thymine-7-hydroxylase from a Rhodotorula glutinis cDNA library and iso-orotate decarboxylase from Neurospora crassa.

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Ingia / Ingia

Genes for two enzymes in the thymidine salvage pathway, thymine-7-hydroxylase (THase; official name thymine dioxygenase) and iso-orotate decarboxylase (IDCase) have been isolated from fungal sources. THase was isolated from a Rhodotorula glutinis cDNA library using a degenerate oligonucleotide based

The structure and application of oligodeoxyribonucleotides containing modified, degenerate bases.

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Ingia / Ingia

Oligodeoxynucleotides containing modified pyrimidine bases which can stably hydrogen-bond to adenine and guanine and also purine bases which pair with thymine and cytosine residues in duplexes have been synthesised, as have oligomers with both such analogues. Structures have been investigated by

2-Amino-7-deazaadenine forms stable base pairs with cytosine and thymine.

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Ingia / Ingia

2-Amino-7-deazaadenine ((AD)A) was incorporated into oligodeoxynucleotides (ODN) and their base-pairing properties with natural nucleobases were investigated. In melting temperature (T(m)) experiments, the duplex containing an (AD)A/C base pair showed a high stability comparable to that containing

[A family of X-linked motor and sensory neuropathy with a new type of connexin32 mutation].

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Ingia / Ingia

A 28-year-old man had complaints of muscle weakness in both his legs and fingers. Moderate degrees of symmetrical atrophy adn weakness of the bilateral lower limbs, moderate degree of muscle atrophy was also noticed distal to the lower one third of the upper thigh. A moderate degree of weakness of

Identification of XLRS1 gene mutation (608C>T) in a Portuguese family with juvenile retinoschisis.

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Ingia / Ingia

OBJECTIVE To characterize electroretinogram (ERG) and molecular genetic findings in a family with XLRS1 mutation. The authors present two cases of a Portuguese family with juvenile retinoschisis with a mutation in exon 6. METHODS Two brothers and their parents, grandmother, and uncle underwent a

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy.

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Ingia / Ingia

BACKGROUND Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the muscle sodium and chloride channels associated with other myotonic disorders. It is important to

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