Glucose‐6‐phosphate‐dehydrogenase deficient red blood cell units are associated with decreased posttransfusion red blood cell survival in children with sickle cell disease
Sign Up to like & getrecommendations! Published in 2018 at "American Journal of Hematology"
DOI: 10.1002/ajh.25051
Abstract: Chronic transfusion therapy (CTT) for sickle cell disease (SCD) reduces disease morbidity by suppressing the amount of circulating hemoglobin S (HbS)‐containing red blood cells (RBC). The effectiveness of CTT depends on the rate of RBC… read more here.
Keywords: red blood; deficient; deficient units; g6pd deficient ... See more keywords
A BAFfling liver aspirate: Metastatic high grade SMARCA4 deficient undifferentiated gastroesophageal junction carcinoma masquerading as a hematolymphoid malignancy
Sign Up to like & getrecommendations! Published in 2019 at "Diagnostic Cytopathology"
DOI: 10.1002/dc.24174
Abstract: Undifferentiated malignant SMARCA4‐deficient neoplasms are rare, recently characterized, high grade, potentially lethal malignancies. Such tumors are characterized by the loss of BRG1 encoded by SMARCA4, a key component of the Switch/Sucrose Non‐Fermenting (SWI/SNF) chromatin remodeling… read more here.
Keywords: diagnosis; high grade; smarca4 deficient; deficient ... See more keywords
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A‐deficient immortalized mesenchymal stromal cells
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23306
Abstract: Metachromatic leukodystrophy (MLD) is an autosomal‐recessive lysosomal storage disease caused by mutations in the ARSA gene leading to arylsulfatase A (ARSA) deficiency and causing sulfatide accumulation. Main symptoms of the disease are progressive demyelination, neurological… read more here.
Keywords: mesenchymal stromal; arsa; deficient; stromal cells ... See more keywords
Elucidating the molecular basis of MSH2‐deficient tumors by combined germline and somatic analysis
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Cancer"
DOI: 10.1002/ijc.30820
Abstract: In a proportion of patients presenting mismatch repair (MMR)‐deficient tumors, no germline MMR mutations are identified, the so‐called Lynch‐like syndrome (LLS). Recently, MMR‐deficient tumors have been associated with germline mutations in POLE and MUTYH or… read more here.
Keywords: deficient; msh2; deficient tumors; analysis ... See more keywords
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12480
Abstract: Inherited errors of mitochondrial fatty acid β-oxidation (FAO) are life threatening, even with optimum care. FAO is the major source of energy for heart and is critical for skeletal muscles especially during physiologic stress. Clinical… read more here.
Keywords: chain; deficient; fatty acids; chain fatty ... See more keywords
Selective sensitivity of EZH2 inhibitors based on synthetic lethality in ARID1A-deficient gastric cancer
Sign Up to like & getrecommendations! Published in 2020 at "Gastric Cancer"
DOI: 10.1007/s10120-020-01094-0
Abstract: Background AT-rich interactive domain 1A ( ARID1A ) is a tumor suppressor gene that is frequently mutated in gastric cancer (GC). Although ARID1A mutations are not a druggable target for conventional treatments, novel therapeutic strategies… read more here.
Keywords: deficient; ezh2 inhibitors; arid1a deficient; cancer ... See more keywords
Characterization and Validation of Canine P-Glycoprotein-Deficient MDCK II Cell Lines for Efflux Substrate Screening.
Sign Up to like & getrecommendations! Published in 2020 at "Pharmaceutical research"
DOI: 10.1007/s11095-020-02895-9
Abstract: PURPOSE We characterized three canine P-gp (cP-gp) deficient MDCKII cell lines. Their relevance for identifying efflux transporter substrates and predicting limitation of brain penetration were evaluated. In addition, we discuss how compound selection can be… read more here.
Keywords: deficient; cell lines; brain penetration; cell ... See more keywords
Management of Short Stature: Use of Growth Hormone in GH-Deficient and non-GH–Deficient Conditions
Sign Up to like & getrecommendations! Published in 2021 at "Indian Journal of Pediatrics"
DOI: 10.1007/s12098-021-03892-5
Abstract: Growth hormone (GH) is an important driver for somatic growth and increase in height in children. The development of recombinant human GH has greatly increased its availability, and hence the potential for its use and… read more here.
Keywords: deficient; treatment; short stature; growth hormone ... See more keywords
SMARCB1/INI1 Deficient Sino-Nasal Carcinoma: Extending the Histomorphological Features
Sign Up to like & getrecommendations! Published in 2020 at "Head and Neck Pathology"
DOI: 10.1007/s12105-020-01246-9
Abstract: SMARCB1/INI1 deficient sinonasal carcinoma is a variant of sinonasal undifferentiated carcinoma (SNUC). There is a paucity of literature describing the histomorphological features of this relatively new entity. Herein we describe the histomorphological features of three… read more here.
Keywords: carcinoma; deficient; ini1 deficient; three cases ... See more keywords
Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: SWI/SNF-deficient Sinonasal Neoplasms: An Overview
Sign Up to like & getrecommendations! Published in 2022 at "Head and Neck Pathology"
DOI: 10.1007/s12105-022-01416-x
Abstract: The pathology of poorly differentiated sinonasal malignancies has been the subject of extensive studies during the last decade, which resulted into significant developments in the definitions and histo-/pathogenetic classification of several entities included in the… read more here.
Keywords: deficient; sinonasal; carcinoma; swi snf ... See more keywords
Enhanced Reversible Zinc Ion Intercalation in Deficient Ammonium Vanadate for High-Performance Aqueous Zinc-Ion Battery
Sign Up to like & getrecommendations! Published in 2021 at "Nano-Micro Letters"
DOI: 10.1007/s40820-021-00641-3
Abstract: The partial removal of ammonium cations from ammonium vanadate results in an expanded interplanar space. The deficient ammonium vanadate exhibits highly reversible redox reaction. Ex situ characterizations suggest the reversible Zn 3 V 2 O… read more here.
Keywords: deficient; ammonium vanadate; zinc ion;