Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in

Anemia, Diamond-Blackfan / genetics Humans Infant, Newborn Male Mutation RNA Splicing Ribosomal Proteins / biosynthesis
Diamond-Blackfan anemia functional splicing analysis intronic variant minigene assay

Journal

Pediatric hematology and oncology
ISSN: 1521-0669
Titre abrégé: Pediatr Hematol Oncol
Pays: England
ID NLM: 8700164

Informations de publication

Date de publication:
Sep 2021
Historique:
pubmed: 25 2 2021
medline: 18 9 2021
entrez: 24 2 2021
Statut: ppublish

Résumé

Diamond-Blackfan anemia (DBA) is mainly caused by pathogenic variants in ribosomal proteins and 22 responsible genes have been identified to date. The most common causative gene of DBA is

Identifiants

DOI: 10.1080/08880018.2021.1887984 PMID: 33622161
pubmed: 33622161
doi: 10.1080/08880018.2021.1887984
doi:

Substances chimiques

Ribosomal Proteins 0
ribosomal protein S19 0

Types de publication

Case Reports Clinical Trial Journal Article Video-Audio Media

Langues

eng

Sous-ensembles de citation

IM

Pagination

515-527

Auteurs

Satoru Takafuji (S)

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Takeshi Mori (T)

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Noriyuki Nishimura (N)

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Nobuyuki Yamamoto (N)

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Suguru Uemura (S)

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Kandai Nozu (K)

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Kiminori Terui (K)

Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

Tsutomu Toki (T)

Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

Etsuro Ito (E)

Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

Hideki Muramatsu (H)

Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Yoshiyuki Takahashi (Y)

Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Masafumi Matsuo (M)

Locomotion Biology Research Center, Kobe Gakuin University, Kobe, Japan.

Tomohiko Yamamura (T)

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Kazumoto Iijima (K)

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Anémie hypoplasique congénitale › Anémie de Blackfan-Diamond › Usefulness of functional splicing analysis to...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Usefulness of functional splicing analysis to...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Usefulness of functional splicing analysis to...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Usefulness of functional splicing analysis to...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Maturation post-transcriptionnelle des ARN › Épissage des ARN › Usefulness of functional splicing analysis to...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines ribosomiques › Usefulness of functional splicing analysis to...