Results 221 to 230 of about 48,766 (300)

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Optical genome mapping of a complex structural rearrangement family line on chromosome 18. [PDF]

Hereditas
Cai L, Jiang Y, Zhang N, Chen X.
europepmc   +1 more source

Hematopathology Practice in the Digital Era: What has Changed?

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematopathology workflows are complex, since they include numerous data points necessary for guiding further testing, diagnosis, and patient management. The workflows start with complete blood cell counts, with subsequent morphologic evaluation of peripheral blood (PB) and bone marrow (BM).
Olga Pozdnyakova
wiley   +1 more source

A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control. [PDF]

Mol Cytogenet
Yang X, Yin K, Li M, Zhou J, Zhang H, Qi Q, Zhou X, Jiang Y, Wang Y, Hao N.   +9 more
europepmc   +1 more source

Significance of Myelodysplasia‐Related Mutations and the Genetic Landscape of Acute Leukemias of Ambiguous Lineage

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT The recent fifth edition WHO classification and ICC classification systems have moved further toward genetically defined classifications of acute leukemias. Both now recognize myelodysplasia‐related (MR) mutations as defining of MDS‐related AML (AML‐MR).
Timothy J. Kirtek, Olga K. Weinberg
wiley   +1 more source

Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report. [PDF]

Medicine (Baltimore)
Sun X, Lin S, Wang W, Qi Y, Jiang K.
europepmc   +1 more source

Common Hematologic Emergencies—Acute Promyelocytic Leukemia and Microangiopathic Hemolytic Anemias—A Pivotal Role of Clinical Laboratory

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova, Nicolas Ulrich Edgar, Anton V. Rets   +2 more
wiley   +1 more source

Diagnosing Systemic Mastocytosis: State of the Art

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT With the advent of effective multikinase and selective tyrosine kinase inhibitors in systemic mastocytosis, diagnosing this rare disease has been critical to improving patient morbidity and mortality. This state‐of‐the‐art review interprets the international diagnostic criteria, including differences between the WHO 5th edition classification ...
Anton Rets, Tracy I. George
wiley   +1 more source

Hidden in Plain Sight: A Rare 7q Deletion Masquerading as a Common Aneuploidy on Prenatal Ultrasound. [PDF]

Cureus
Abang Abdullah ZH, Mohd Alauddin M, Mohamad S, Abang Abdullah AF, Mohd Jamil AA.   +4 more
europepmc   +1 more source

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +1 more source