Gene therapy for obstetric conditions [PDF]
, 2014 The first clinical trials of gene therapy in the 1990s offered the promise of a new paradigm for the treatment of genetic diseases. Over the decades that followed the challenges and setbacks which gene therapy faced often overshadowed any successes ...
ANNA L. DAVID +9 more
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The roles of Irx3 and Irx5 in mammalian inner ear development [PDF]
, 2013 Iroquois genes encode a family of transcription factors containing TALE class homeodomain. They are regarded as prepatterning genes in Drosophila sensory organ development. There are six members (Irx1Irx6) of Iroquois genes in mouse and human.
Chan, YS +6 more
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Sufu defines the balance of hindbrain progenitor cells maintenance and differentiation [PDF]
, 2013 Suppressor of fused (Sufu) was identified as a regulator in Hedgehog signalling. Study shown that Sufu knockout mice were embryonic lethal at E9.5, exhibiting cephalic deformities, open neural tube and ventralized spinal cord resulting from ectopic Shh ...
Hor, HH, Hui, CC, Sham, MH, Wang, XA
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The role of branched muscle fibres and ACTN3 polymorphism as a genetic disease modifier in Duchenne nuscular dystrophy [PDF]
, 2022 Duchenne muscular dystrophy (DMD) is the second most common fatal genetic disease in humans, with an incidence of 1 in 3300 live male births. DMD is characterized by progressive cycles of skeletal muscle necrosis/regeneration triggered by the absence of ...
Kiriaev, Leonit
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Identification and characterization of long-range SOX9 enhancers in limb development [PDF]
, 2013 The transcription factor Sox9 is a master regulator of skeletogenesis. Heterozygous mutations of human SOX9 result in Campomelic Dysplasia (CD), in which affected individuals display distinct abnormalities in limbs and other skeletal assemblies. Recently,
Chan, D +5 more
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Kinesin-1 is involved in chondrocytes adhesion to extracellular matrix and motility [PDF]
, 2013 Intercalation movement of proliferative chondrocytes is crucial for their columnar organization which is essential for proper function of growth plate cartilage.
Chan, D +5 more
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MMP14 regulates the lineage progression of hypertrophic chondrocytes [PDF]
, 2013 It is traditionally believed that chondrocytes and osteoblasts are two separate lineages with hypertrophic chondrocytes (HCs) being the terminal stage of chondrocyte differentiation, culminating in apoptosis.
Cheah, KSE +4 more
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Recovery of respiratory function in mdx mice co-treated with neutralizing interleukin-6 receptor antibodies and Urocortin-2 [PDF]
, 2018 The mdx mouse model of Duchenne muscular dystrophy shows evidence of hypoventilation and pronounced diaphragm dysfunction. Six‐week‐old male mdx (n = 32) and wild‐type (WT; n = 32) mice received either saline (0.9% w/v) or a co‐administration of ...
Brannock, Molly +8 more
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Deletion of the Coffin-Lowry Syndrome Gene Rsk2 in Mice is Associated With Impaired Spatial Learning and Reduced Control of Exploratory Behavior [PDF]
, 2018 Coffin-Lowry Syndrome (CLS) is an X-linked syndromic form of mental retardation associated with skeletal abnormalities. It is caused by mutations of the Rsk2 gene, which encodes a growth factor regulated kinase.
Davis, S. +10 more
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Microcloning and Molecular Mapping of the Mouse X Chromosome. [PDF]
, 1987 Imperial Users ...
FISHER, Elizabeth Mary Claire +1 more
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