retinitis pigmentosa/fiabhras

Sábháiltear an nasc chuig an gearrthaisce

Ailt Trialacha cliniciúlaPaitinní

Roghnaigh cineál sórtála

7 torthaí

[On a case of retinitis pigmentosa following typhoid fever].

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Logáil Isteach / Cláraigh

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

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Logáil Isteach / Cláraigh

Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high neonatal lethality, associated with the following main clinical features: hyperthermia and feeding difficulties in the neonatal period,

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

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Logáil Isteach / Cláraigh

Retinitis pigmentosa (RP) is a highly heterogeneous group of disorders characterized by degeneration of the retinal photoreceptor cells and progressive loss of vision. While hundreds of mutations in more than 100 genes have been reported to cause RP, discovering the causative mutations in many

In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.

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Logáil Isteach / Cláraigh

Mutations in the human TRNT1 gene encoding tRNA nucleotidyltransferase (tRNA-NT), an essential enzyme responsible for addition of the CCA (cytidine-cytidine-adenosine) sequence to the 3'-termini of tRNAs, have been linked to disease phenotypes including congenital sideroblastic anemia with B-cell

TRNT1 deficiency: clinical, biochemical and molecular genetic features.

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Logáil Isteach / Cláraigh

TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). We investigated four patients from two families with infantile-onset cyclical, aseptic

Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.

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Logáil Isteach / Cláraigh

Mutation in the gene encoding tRNA nucleotidyl transferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3'-terminal CCA sequence in tRNA molecules, results in a disorder that features sideroblastic anemia, B-cell immunodeficiency, periodic fever, and developmental delay.

Diseases Associated With Defects in tRNA CCA Addition

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Logáil Isteach / Cláraigh

tRNA nucleotidyl transferase 1 (TRNT1) is an essential enzyme catalyzing the addition of terminal cytosine-cytosine-adenosine (CCA) trinucleotides to all mature tRNAs, which is necessary for aminoacylation. It was recently discovered that partial loss-of-function mutations in TRNT1 are associated

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Herbal & Natural Medicine

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