The spherocytic haemolytic anaemias

Bain, Barbara J.

doi:10.1046/j.1365-2141.2001.0115_1cr-2.x

Cited by 5 publications

(2 citation statements)

References 12 publications

(15 reference statements)

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“…In a similar manner, mutations in the canonical PAS of HBB hemoglobin subunit beta (HBB) were also found to result in very low expression levels and to produce extended transcripts [ 183 ]. As with HBA2, further HBB PAS mutations were identified, resulting in mild β-thalassaemia [ 184 , 234 , 235 , 236 , 237 , 238 , 239 , 240 , 241 , 242 ].…”

Section: The Role Of Cleavage and Polyadenylation In Diseasementioning

confidence: 99%

Emerging Roles of RNA 3′-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders

2020

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A crucial feature of gene expression involves RNA processing to produce 3′ ends through a process termed 3′ end cleavage and polyadenylation (CPA). This ensures the nascent RNA molecule can exit the nucleus and be translated to ultimately give rise to a protein which can execute a function. Further, alternative polyadenylation (APA) can produce distinct transcript isoforms, profoundly expanding the complexity of the transcriptome. CPA is carried out by multi-component protein complexes interacting with multiple RNA motifs and is tightly coupled to transcription, other steps of RNA processing, and even epigenetic modifications. CPA and APA contribute to the maintenance of a multitude of diverse physiological processes. It is therefore not surprising that disruptions of CPA and APA can lead to devastating disorders. Here, we review potential CPA and APA mechanisms involving both loss and gain of function that can have tremendous impacts on health and disease. Ultimately we highlight the emerging diagnostic and therapeutic potential CPA and APA offer.

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Section: The Role Of Cleavage and Polyadenylation In Diseasementioning

confidence: 99%

Emerging Roles of RNA 3′-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders

2020

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“…Sir, We would like to endorse Dr B. J. Bain's comments on spherocytic haemolytic anaemias (Bain, 2001). In particular, we would like to highlight her statement in the last sentence that `small numbers of spherocytes may be seen in microangiopathic haemolytic anaemia', and to discuss the diagnostic difficulties of visual determination.…”

Section: Spherocytes Irregularly Contracted Cells or … Schistocytes?mentioning

confidence: 99%

Correspondence

Salignac

Lecompte

et al. 2002

Clinical &Amp; Laboratory Haematology

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Compound Heterozygosity for Two New Mutations in the β‐Globin Gene [Codon 9 (+ TA) and Polyadenylation Site (AATAAA→AAAAAA)] Leads to Thalassemia Intermedia in a Tunisian Patient

et al. 2004

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More than 200 mutations that are associated with beta-thalassemia (thal) have been found. In most cases, studies to detect a mutation in a patient is made easier because of the existence of geographical sets of mutations that allow the use of a dedicated mutation detection kit. We describe here a patient who originated from Tunisia, in whom we found two as yet unreported mutations, showing that even in a well-studied population a full gene study might be needed to characterize mutation(s).

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The spherocytic haemolytic anaemias

Cited by 5 publications

References 12 publications

Emerging Roles of RNA 3′-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders

Emerging Roles of RNA 3′-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders

Correspondence

Compound Heterozygosity for Two New Mutations in the β‐Globin Gene [Codon 9 (+ TA) and Polyadenylation Site (AATAAA→AAAAAA)] Leads to Thalassemia Intermedia in a Tunisian Patient

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