Results 51 to 60 of about 446,142 (191)

Arterial dysgenesis and limb defects : Clinical and experimental examples [PDF]

open access: yes, 2017
Acknowledgements This article is dedicated to Dr David S. Packard Jr. With thanks to Dr John DeSesso, Dr Lewis B. Holmes, Dr Mark Levinsohn, Dr David S.
Hootnick, David R., Vargesson, Neil
core   +1 more source

Reciprocal knock-in mice to investigate the functional redundancy of lamin B1 and lamin B2. [PDF]

open access: yes, 2014
Lamins B1 and B2 (B-type lamins) have very similar sequences and are expressed ubiquitously. In addition, both Lmnb1- and Lmnb2-deficient mice die soon after birth with neuronal layering abnormalities in the cerebral cortex, a consequence of defective ...
Coffinier, Catherine   +10 more
core  

Exploring the mechanism of fraxetin against acute myeloid leukemia through cell experiments and network pharmacology

open access: yesBMC Complementary Medicine and Therapies
Objective Previous studies have shown that fraxetin has antitumor activity in a variety of tumors, but its role in acute myeloid leukemia (AML) remains unclear.
Tingting Fang, Lanqin Liu, Wenjun Liu
doaj   +1 more source

A novel variant in NSUN2 causes intellectual disability in a Chinese family

open access: yesBMC Medical Genomics
NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short ...
Qi Yang   +4 more
doaj   +1 more source

VACTERL association [PDF]

open access: yes, 2010
VACTERL association is a useful acronym for a condition characterised by the sporadic, non-random association of specific birth defects of multiple organ systems.We present one such case which had congenital abnormalities of renal,skeletal and cardiac ...
Rabah, SM, Salati, SA
core   +1 more source

Maternal serum zinc deficiency in cases of neural tube defect in Gorgan, north Islamic Republic of Iran [PDF]

open access: yes, 2009
Previous studies have shown a high rate of neural tube defects (NTD) in Gorgan, northern Islamic Republic of Iran. This case-control study during 2003-04 compared serum zinc levels and other variables in 23 mothers of neonates affected with NTD and 36 ...
Golalipour, M.J.   +3 more
core   +1 more source

Single-cell analysis of cardiogenesis reveals basis for organ-level developmental defects. [PDF]

open access: yes, 2019
Organogenesis involves integration of diverse cell types; dysregulation of cell-type-specific gene networks results in birth defects, which affect 5% of live births.
de Soysa, T Yvanka   +9 more
core  

Wnt Signaling in Neural Crest Ontogenesis and Oncogenesis. [PDF]

open access: yes, 2019
Neural crest (NC) cells are a temporary population of multipotent stem cells that generate a diverse array of cell types, including craniofacial bone and cartilage, smooth muscle cells, melanocytes, and peripheral neurons and glia during embryonic ...
Hao, Hongyan   +4 more
core   +2 more sources

Case Report: A rare pediatric case of hepatitis B virus infection with acute disseminated encephalomyelitis/Guillain–Barré syndrome spectrum diseases

open access: yesFrontiers in Pediatrics
A 12-year-old girl with convulsions was incidentally found to be infected with hepatitis B virus(HBV), with HBVdeoxyribonucleic acid (DNA) and HBsAg positivity in the cerebrospinal fluid.
Yingxue Li   +3 more
doaj   +1 more source

Vangl2 disruption alters the biomechanics of late spinal neurulation leading to spina bifida in mouse embryos

open access: yesDisease Models & Mechanisms, 2018
Human mutations in the planar cell polarity component VANGL2 are associated with the neural tube defect spina bifida. Homozygous Vangl2 mutation in mice prevents initiation of neural tube closure, precluding analysis of its subsequent roles in ...
Gabriel L. Galea   +8 more
doaj   +1 more source

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