A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia [PDF]
, 2016 We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and biopsy of an ...
Demeter, Ryan T +12 more
core +2 more sources
CRISPR/Cas9‐mediated genome editing: from basic research to translational medicine [PDF]
, 2020 The recent development of the CRISPR/Cas9 system as an efficient and accessible programmable genome-editing tool has revolutionized basic science research. CRISPR/Cas9 system-based technologies have armed researchers with new powerful tools to unveil the
Ferreira, B I +2 more
core +1 more source
HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature
Journal of Medical Case Reports, 2018 Background The p.R63W mutation in hepatocyte nuclear factor-4 alpha (HNF4A) leads to a heterogeneous group of disorders with various clinical presentations.
Jiaojiao Liu +3 more
doaj +1 more source
The DNA damage response acts as a safeguardagainst harmful DNA–RNA hybrids ofdifferent origins [PDF]
, 2019 Despite playing physiological roles in specific situations, DNA–RNA hybrids threat genome integrity. To investigate how cells do counteract spontaneous DNA–RNA hybrids, here we screen an siRNA library covering 240 human DNA damage response (DDR) genes ...
Aguilera López, Andrés +5 more
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Invasive Pneumococcal Disease Associated with Fanconi-Like Syndrome
European Journal of Case Reports in Internal Medicine, 2019 Acquired causes of Fanconi syndrome in adults are usually due to drugs, toxins or paraproteinaemias. Infectious causes are rarely described. We report a case of invasive pneumococcal disease in a patient who developed a Fanconi-like syndrome during the ...
Jade Xiao Jue Soh +2 more
doaj +1 more source
, 2014 The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha +129 more
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Proximal renal tubular acidosis with and without Fanconi syndrome
Kidney Research and Clinical Practice, 2019 Proximal renal tubular acidosis (RTA) is caused by a defect in bicarbonate (HCO3−) reabsorption in the kidney proximal convoluted tubule. It usually manifests as normal anion-gap metabolic acidosis due to HCO3− wastage.
Ibrahim Kashoor, Daniel Batlle
doaj +1 more source
Anesthesia for a patient with Fanconi anemia for developmental dislocation of the hip: a case report
Brazilian Journal of Anesthesiology, 2014 Fanconi anemia is a rare autosomal recessive inherited bone marrow failure syndrome with congenital and hematological abnormalities. Literature regarding the anesthetic management in these patients is limited.
Zafer Dogan +4 more
doaj +3 more sources
A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis
The Turkish Journal of Pediatrics, 2017 Fanconi-Bickel syndrome is a rare autosomal recessive disorder of carbohydrate metabolism, caused by mutations in the SLC2A2 gene, that codes for the glucose transporter protein 2 (GLUT2).
Tuğba Taştemel-Öztürk +3 more
doaj +1 more source
Tenofovir-induced Fanconi syndrome in a patient with chronic hepatitis B monoinfection
Annals of Hepatology, 2016 Tenofovir disoproxil fumarate (TDF) is a nucleotide reverse transcriptase inhibitor indicated for treatment of patients with chronic hepatitis B virus (CHB) and human immunodeficiency virus (HIV) infections.
Fabio Conti +4 more
doaj +1 more source