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Literature DB >> 34407605

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.

Elia Colin¹, Geneviève Courtois², Chantal Brouzes³, Juliette Pulman⁴, Marion Rabant⁵, Agnès Rötig⁴, Hélène Taffin⁶, Mathilde Lion-Lambert⁶, Sylvie Fabrega⁷, Lydie Da Costa⁸, Mariane De Montalembert⁹, Rémi Salomon⁶, Olivier Hermine¹⁰, Lucile Couronné¹¹.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2021 PMID： 34407605 PMCID： PMC8634176 DOI： 10.3324/haematol.2021.279138

Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941

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14 in total

Review 1. Mitochondria in hematopoiesis and hematological diseases.

Authors: M Fontenay; S Cathelin; M Amiot; E Gyan; E Solary
Journal: Oncogene Date: 2006-08-07 Impact factor: 9.867

Review 2. Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology.

Authors: Zhangbiao Long; Hongmin Li; Yali Du; Bing Han
Journal: Gene Date: 2018-05-19 Impact factor: 3.688

3. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Authors: Lisa G Riley; Sandra Cooper; Peter Hickey; Joëlle Rudinger-Thirion; Matthew McKenzie; Alison Compton; Sze Chern Lim; David Thorburn; Michael T Ryan; Richard Giegé; Melanie Bahlo; John Christodoulou
Journal: Am J Hum Genet Date: 2010-07-09 Impact factor: 11.025

4. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.

Authors: Ruth Belostotsky; Efrat Ben-Shalom; Choni Rinat; Rachel Becker-Cohen; Sofia Feinstein; Sharon Zeligson; Reeval Segel; Orly Elpeleg; Suheir Nassar; Yaacov Frishberg
Journal: Am J Hum Genet Date: 2011-01-20 Impact factor: 11.025

Review 5. Mitochondrial cytopathies.

Authors: Ayman W El-Hattab; Fernando Scaglia
Journal: Cell Calcium Date: 2016-03-04 Impact factor: 6.817

Review 6. Apoptotic mechanisms in the control of erythropoiesis.

Authors: U Testa
Journal: Leukemia Date: 2004-07 Impact factor: 11.528

7. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

Authors: Lisa G Riley; Joëlle Rudinger-Thirion; Klaus Schmitz-Abe; David R Thorburn; Ryan L Davis; Juliana Teo; Susan Arbuckle; Sandra T Cooper; Dean R Campagna; Magali Frugier; Kyriacos Markianos; Carolyn M Sue; Mark D Fleming; John Christodoulou
Journal: JIMD Rep Date: 2015-11-05