Results 141 to 150 of about 1,017,559 (266)

Overview of next-generation sequencing to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review. [PDF]

Front Immunol
Dos Santos-Bueno FV, Morgado ES, Agonigi BNDS, Lopes MRG, Pinheiro MO, da Silva LL, Salú MDS, Faccion RS, de Vasconcelos ZFM.   +8 more
europepmc   +1 more source

Identification and characterisation of calcitonin receptor isoforms expressed in glioblastoma derived glioma stem and U‐87 MG cells

FEBS Open Bio, EarlyView.
Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta, Sebastian GB Furness, Tahereh Gharbi, Ric De Paoli‐Iseppi, Shweta S. Joshi, Michael Clark, David L. Hare, Peter Wookey   +7 more
wiley   +1 more source

Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter Study. [PDF]

Diagnostics (Basel)
Nazarie FV, Dobrescu MA, Lazea C, David AA, Șufană C, Bucerzan S, Cainap SS, Rancea R, Stănoiu-Pînzariu O, Pascanu IM, Popp RA, Pop LA, Lazăr C, Alkhzouz C, Miclea D, Vulturar R.   +15 more
europepmc   +1 more source

Using cell‐free RNA to identify B‐ and T‐cell clonality for diagnosis and monitoring of B‐ and T‐cell neoplasms

FEBS Open Bio, EarlyView.
Using peripheral blood for determining B‐cell or T‐cell clonality is more reliable when we use cell‐free RNA (cfRNA) because cells release blood significantly more RNA than DNA. Next‐generation sequencing (NGS) of cfRNA allows us to evaluate fragment cfRNA and evaluate clonality reliably without the need for prior determination of the specific dominant
Adam Albitar, Sally Agersborg, Ahmed Charifa, Pooja Phull, Noa Biran, David Vesole, Harsh Parmar, Andrew Pecora, Andrew Ip, Andre Goy, David Siegel, Maher Albitar   +11 more
wiley   +1 more source

Recent advances in neonatal Beckwith-Wiedemann syndrome: from molecular diagnosis to multidisciplinary management-a narrative review. [PDF]

Transl Pediatr
Xue H, Hu Y, Wu X.
europepmc   +1 more source

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

Atypical Presentations and Molecular Diagnosis of Ocular Bartonellosis. [PDF]

Int J Mol Sci
Alafaleq M, Fardeau C.
europepmc   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Editorial for the Special Issue "Early Molecular Diagnosis and Comprehensive Treatment of Tumors". [PDF]

Curr Issues Mol Biol
Tsai YC, Kuo CY.
europepmc   +1 more source

Long‐Term Follow‐Up of Chemotherapy‐Associated Biological Aging in Women With Early Breast Cancer

Aging and Cancer, EarlyView.
Women threated with adjuvant chemotherapy for early breast cancer have sustained long‐term increase in p16INK4a,, a robust marker of cell senescence, suggesting a chemotherapy‐associated age acceleration. p16INK4a as well as other biomarkers may identify patients at greatest risk for senescence‐related diseases of aging.
Hyman B. Muss, Alexis C. Wardell, Allison M. Deal, Kirsten A. Nyrop, Allison Ross, Yara G. Abdou, Jeffrey D. Aldrich, Lisa A. Cary, E. Claire Dees, Katherine E. Reeder‐Hayes, Emily M. Ray, Natalia Mitin, Denis Tsygankov   +12 more
wiley   +1 more source