Cargando…

Idiopathic Pulmonary Embolism in a case of Severe Family ANKRD26 Thrombocytopenia

Venous thrombosis affecting thrombocytopenic patients is challenging. We report the case of a woman affected by deep vein thrombosis and pulmonary embolism in a thrombocytopenic context leading to the discovery of a heterozygous mutation in the gene encoding ankyrin repeat domain 26 (ANKRD26) associ...

Descripción completa

Detalles Bibliográficos
Autores principales:	Guison, Jerome, Blaison, Gilles, Stoica, Oana, Hurstel, Remy, Favier, Marie, Favier, Remy
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Università Cattolica del Sacro Cuore 2017
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499493/ https://www.ncbi.nlm.nih.gov/pubmed/28698781 http://dx.doi.org/10.4084/MJHID.2017.038

Ejemplares similares

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript
por: Wahlster, Lara, et al.
Publicado: (2021)

ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26
por: Perez Botero, J, et al.
Publicado: (2015)

Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome
por: Kewan, Tariq, et al.
Publicado: (2020)

ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis
por: Basso-Valentina, Francesca, et al.
Publicado: (2023)

Multiple Myeloma in a Patient with ANKRD26-Related Thrombocytopenia Successfully Treated with Combination Therapy and Autologous Stem Cell Transplant
por: Husnain, Muhammad, et al.
Publicado: (2019)

Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations
por: Drazer, Michael W., et al.
Publicado: (2022)

Ad26.cov2-s: Pulmonary embolism, transient ischaemic attack and thrombocytopenia: case report
Publicado: (2021)

Kisspeptin Activates Ankrd 26 Gene Expression in Migrating Embryonic GnRH Neurons
por: Soga, Tomoko, et al.
Publicado: (2016)

TALPID3 and ANKRD26 selectively orchestrate FBF1 localization and cilia gating
por: Yan, Hao, et al.
Publicado: (2020)

ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia
por: McCormick, Benjamin J, et al.
Publicado: (2023)

An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)
por: Uddin, K. M. Furkan, et al.
Publicado: (2018)

Severe Thrombophilia in Idiopathic Fatal Pulmonary Embolism
por: Martínez-Martínez, Irene
Publicado: (2017)

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia
por: Marconi, Caterina, et al.
Publicado: (2017)

一个伴ANKRD26基因突变的2型血小板减少症家系
Publicado: (2018)

Centriolar distal appendages activate the centrosome‐PIDDosome‐p53 signalling axis via ANKRD26
por: Burigotto, Matteo, et al.
Publicado: (2020)

Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases
por: Vyas, Hrushikesh, et al.
Publicado: (2022)

Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26
por: Homan, Claire C., et al.
Publicado: (2023)

Vaccine-induced massive pulmonary embolism and thrombocytopenia following a single dose of Janssen Ad26.COV2.S vaccination
por: Curcio, Rosa, et al.
Publicado: (2022)

Ankrd31 in Sperm and Epididymal Integrity
por: Manfrevola, Francesco, et al.
Publicado: (2021)

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
por: Crippa, Milena, et al.
Publicado: (2015)

Characteristics of Adult Patients with Idiopathic Retroperito-Neal Fibrosis and Assessment of Risk of Relapse at Diagnosis
por: Razanamahery, Jerome, et al.
Publicado: (2021)

ANKRD22 is involved in the progression of prostate cancer
por: Qiu, Yiqing, et al.
Publicado: (2019)

Interactome of the Autoimmune Risk Protein ANKRD55
por: Ugidos, Nerea, et al.
Publicado: (2019)

Tumor Suppressor RARRES1 Regulates DLG2, PP2A, VCP, EB1, and Ankrd26
por: Sahab, Ziad J., et al.
Publicado: (2010)

Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations
por: Ovsyannikova, Galina S., et al.
Publicado: (2022)

A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications
por: Lovatel, Viviane Lamim, et al.
Publicado: (2023)

AZD-1222: Immune thrombotic thrombocytopenia and pulmonary embolism: case report
Publicado: (2021)

Severe thrombocytopenia in patients with idiopathic pulmonary arterial hypertension provided several strategies for lung transplantation
por: Kobayashi, Takayuki, et al.
Publicado: (2020)

Pulmonary Embolism Revealing Idiopathic Membranous Glomerulonephritis
por: Hamzaoui, A., et al.
Publicado: (2010)

Mask family proteins ANKHD1 and ANKRD17 regulate YAP nuclear import and stability
por: Sidor, Clara, et al.
Publicado: (2019)

Epigenetic silencing of the ANKRD26 gene correlates to the pro-inflammatory profile and increased cardio-metabolic risk factors in human obesity
por: Desiderio, Antonella, et al.
Publicado: (2019)

SAT535 ANKRD26-RET Fusion Positive Metastatic Papillary Thyroid Carcinoma - Advanced Presentation of a Rare Mutation
por: Hashmi, Hiba, et al.
Publicado: (2023)

A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature
por: Kang, Yabin, et al.
Publicado: (2019)

Refractory severe idiopathic thrombocytopenia and treatment challenges
por: Shahnazi, Anahita, et al.
Publicado: (2023)

Saddle Pulmonary Embolism in a Cancer Patient with Thrombocytopenia: A Treatment Dilemma
por: Zalpour, Ali, et al.
Publicado: (2010)

Use of fondaparinux in a pregnant woman with pulmonary embolism and heparin-induced thrombocytopenia
por: Ciurzyński, Michał, et al.
Publicado: (2011)

ANKRD26 and Its Interacting Partners TRIO, GPS2, HMMR and DIPA Regulate Adipogenesis in 3T3-L1 Cells
por: Liu, Xiu-Fen, et al.
Publicado: (2012)

P1648: ANALYSIS OF ANKRD26 GENE 5’UTR VARIANTS IN A COHORT OF CZECH PATIENTS WITH SUSPECTED HEREDITARY HEMATOLOGICAL DISORDER
por: Stano Kozubik, K., et al.
Publicado: (2022)

The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor endocytosis from the plasma membrane
por: Tanno, Hidetaka, et al.
Publicado: (2012)

hnRNPL-activated circANKRD42 back-splicing and circANKRD42-mediated crosstalk of mechanical stiffness and biochemical signal in lung fibrosis
por: Xu, Pan, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_jhjb5kion4ej0hs8fpohul169g