Loss-of-function mutations in

Adolescent Adult Animals Blood Platelets / metabolism CRISPR-Cas Systems Child Female Follow-Up Studies Genetic Predisposition to Disease Hematopoiesis Humans Male Megakaryocytes / metabolism Middle Aged Mutation Pedigree Prognosis Receptor-Like Protein Tyrosine Phosphatases, Class 3 / antagonists & inhibitors Thrombocytopenia / etiology Zebrafish

Journal

Blood
ISSN: 1528-0020
Titre abrégé: Blood
Pays: United States
ID NLM: 7603509

Informations de publication

Date de publication:
21 03 2019
Historique:
received: 05 07 2018
accepted: 19 12 2018
pubmed: 29 12 2018
medline: 9 11 2019
entrez: 29 12 2018
Statut: ppublish

Résumé

Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet count that may result in bleeding tendency. Despite progress being made in defining the genetic causes of ITs, nearly 50% of patients with familial thrombocytopenia are affected with forms of unknown origin. Here, through exome sequencing of 2 siblings with autosomal-recessive thrombocytopenia, we identified biallelic loss-of-function variants in

Identifiants

DOI: 10.1182/blood-2018-07-859496 PMID: 30591527
pubmed: 30591527
pii: S0006-4971(20)42690-4
doi: 10.1182/blood-2018-07-859496
doi:

Substances chimiques

PTPRJ protein, human EC 3.1.3.48
Receptor-Like Protein Tyrosine Phosphatases, Class 3 EC 3.1.3.48

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1346-1357

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2019 by The American Society of Hematology.

Auteurs

Caterina Marconi (C)

Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
ORCID: 0000-0002-1210-3969

Christian A Di Buduo (CA)

Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Biotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.

Kellie LeVine (K)

Center for Human Disease Modeling, Duke University, Durham, NC.

Serena Barozzi (S)

Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
ORCID: 0000-0002-5622-739X

Michela Faleschini (M)

Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

Valeria Bozzi (V)

Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.

Flavia Palombo (F)

Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.

Spencer McKinstry (S)

Center for Human Disease Modeling, Duke University, Durham, NC.
ORCID: 0000-0002-3704-8919

Giuseppe Lassandro (G)

Department of Biomedical Science and Human Oncology, Pediatric Unit, University "Aldo Moro," Bari, Italy.

Paola Giordano (P)

Department of Biomedical Science and Human Oncology, Pediatric Unit, University "Aldo Moro," Bari, Italy.

Patrizia Noris (P)

Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.

Carlo L Balduini (CL)

Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
Ferrata-Storti Foundation, Pavia, Italy.

Anna Savoia (A)

Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Department of Medical Sciences, University of Trieste, Trieste, Italy; and.

Alessandra Balduini (A)

Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Biotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
Department of Biomedical Engineering, Tufts University, Medford, MA.

Tommaso Pippucci (T)

Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.

Marco Seri (M)

Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.

Nicholas Katsanis (N)

Center for Human Disease Modeling, Duke University, Durham, NC.

Alessandro Pecci (A)

Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
ORCID: 0000-0001-9202-7013

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Loss-of-function mutations in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Loss-of-function mutations in
questionsmedicales.fr › Eucaryotes › Animaux › Loss-of-function mutations in
questionsmedicales.fr › Systèmes sanguin et immunitaire › Sang › Cellules sanguines › Plaquettes › Loss-of-function mutations in
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Épigenèse génétique › Extinction de l'expression des gènes › Systèmes CRISPR-Cas › Loss-of-function mutations in
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Loss-of-function mutations in
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études de suivi › Loss-of-function mutations in
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Loss-of-function mutations in
questionsmedicales.fr › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiogiques du sang › Hématopoïèse › Loss-of-function mutations in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Loss-of-function mutations in
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système hématopoïétique › Cellules de la moelle osseuse › Mégacaryocytes › Loss-of-function mutations in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Loss-of-function mutations in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Loss-of-function mutations in
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Loss-of-function mutations in
questionsmedicales.fr › Diagnostic › Pronostic › Loss-of-function mutations in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein Tyrosine Phosphatases › Receptor-Like Protein Tyrosine Phosphatases, Class 3 › Loss-of-function mutations in
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Anomalies des plaquettes › Thrombopénie › Loss-of-function mutations in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Poissons › Cypriniformes › Cyprinidae › Danio zébré › Loss-of-function mutations in