Results 111 to 120 of about 13,796 (248)

Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model. [PDF]

Stem Cell Reports, 2021
Borst S, Nations CC, Klein JG, Pavani G, Maguire JA, Camire RM, Drazer MW, Godley LA, French DL, Poncz M, Gadue P.   +10 more
europepmc   +1 more source

Creatinine–Cystatin C Discrepancy and Renal Transporter Polymorphisms in Japanese Patients with Breast Cancer Receiving Abemaciclib

Clinical Pharmacology &Therapeutics, EarlyView.
Abemaciclib increases serum creatinine by inhibiting renal tubular transporters rather than reducing true glomerular filtration rate, a phenomenon known as pseudo‐acute kidney injury. Creatinine–cystatin C discrepancy and genetic determinants of this elevation remain insufficiently characterized in Japanese patients.
Hiroaki Watanabe, Keita Hirai, Takaaki Oba, Mayu Ono, Ken‐ichi Ito, Takafumi Naito   +5 more
wiley   +1 more source

Bernard–Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review

Hematology
Background: Bernard–Soulier syndrome (BSS) is a rare inherited macrothrombocytopenia, usually autosomal recessive, which is characterized by prolonged bleeding, thrombocytopenia, and abnormally large platelets.Methods: For more than 6 years, we ...
Senlin Zhang, Jing Ling, Kai Cui, Shihong Zhan, Jiajia Zheng, Wenyi Wang, Junjie Fan, Shaoyan Hu   +7 more
doaj   +1 more source

Coexistence of immunophenotypically normal and aberrant mast cells in patients with clonal mast cell diseases associates with more indolent subtypes and less severe disease characteristics

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract Aberrant antigen expression on mast cells (MCs) is one of the most accurate diagnostic markers for clonal MC diseases (CMCD). Although the coexistence of normal and pathologic MCs is frequently seen, the disease characteristics associated with it have been minimally investigated.
Abdulrazzaq Alheraky, Kees Meijer, Marije Nijk, Saskia K. Klein, Hanneke N. G. Oude Elberink, Ido P. Kema, André B. Mulder   +6 more
wiley   +1 more source

Commonalities of platelet dysfunction in heart failure with preserved ejection fraction and underlying comorbidities

ESC Heart Failure, Volume 12, Issue 2, Page 1013-1028, April 2025.
Abstract Heart failure with preserved ejection fraction (HFpEF) is characterized by a lack of a specific targeted treatment and a complex, partially unexplored pathophysiology. Common comorbidities associated with HFpEF are hypertension, atrial fibrillation, obesity and diabetes.
Giorgia D'Italia, Blanche Schroen, Judith M.E.M. Cosemans   +2 more
wiley   +1 more source

Spectrum of 5’UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected

Platelets, 2017
Silvia Ferrari, Anna Maria Lombardi, Maria Caterina Putti, Antonella Bertomoro, Irene Cortella, Isabella Barzon, Antonio Girolami, Fabrizio Fabris   +7 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions

Frontiers in Pediatrics
IntroductionMYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia, with a risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract.
Xiaoqiang Lian, Haixia Li, Jihong Hao, Haixin Li, Ling Xu, Shuxia Zhang, Li Cao, Ruimin Li   +7 more
doaj   +1 more source

Optimizing polytherapy management for Dravet syndrome in the United States: A National Expert Consensus

Epilepsia Open, EarlyView.
ABSTRACT Objectives Dravet syndrome (DS) is a severe, drug‐resistant developmental and epileptic encephalopathy (DEE) that requires polytherapy for adequate seizure control. The need to combine multiple antiseizure medications (ASMs), together with variability in seizure types, safety considerations, and evolving patient needs, makes treatment ...
Elaine Wirrell, Joseph Sullivan
wiley   +1 more source

NF-E2 mutation as a novel cause for inherited thrombocytopenia. [PDF]

Br J Haematol, 2020
Luk ADW, Yang X, Alcasabas AP, Hao RC, Chan KW, Lee PP, Yang J, Chan GC, So JC, Yang W, Lau YL.   +10 more
europepmc   +1 more source