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Receptor CXCR4 (CD184) plays an important role in the mechanisms of HSCs migration and repopulation, in regard to the observation, that murine fetuses lacking this receptor (CXCR4-null model) have multiple defects that are lethal, including impaired BM hematopoiesis [ 28].
We have recently reported that progeroid Zmpste24−/− mice, which exhibit multiple defects that phenocopy Hutchinson-Gilford progeria syndrome, show a profound dysregulation of somatotropic axis, mainly characterized by the occurrence of very high circulating levels of growth hormone (GH) and a drastic reduction in insulin-like growth factor-1 (IGF-1).
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Sanford, L. P. et al. TGFβ2 knockout mice have multiple developmental defects that are non-overlapping with other TGFβ knockout phenotypes.
On this basis, the conception of the immune pathophysiology of sepsis dramatically evolved and now encompasses both an initial tremendous systemic inflammatory response responsible for organ failures and a compensatory anti-inflammatory response with multiple immune defects that may result in complex immunosuppression in some patients [31].
Quasi's pageant bio says that despite the multiple birth defects that contribute to her odd appearance, she is a happy dog who loves to run and play.
Lmna-/ mice appear normal at birth but become runted as early as 2 weeks of age and develop multiple tissue defects that mimic some aspects of human laminopathies.
As we have shown previously, FOG-2 deficient mice die at approximately embryonic day 13.5 due to multiple cardiac defects that include ventricular septal defects and ventricular wall hypoplasia [18], [19].
Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis.
Interestingly, these mice showed severe abnormalities of chondrocyte and osteoblast differentiation and developed multiple skeletal defects that are not observed in the adult induced SHP-2-deficient model, including growth retardation, limb and chest skeletal abnormalities, and calvarial defects.
It is very likely that the group of BRCAX cases is attributable to multiple genetic defects that may fall into the class of rare moderate-risk genes or, more unlikely, in rare high-risk (BRCA-like) genes.
Tbx22 null mice show multiple craniofacial defects that include submucous or overt CP, choanal atresia, reduced vomer and ankyloglossia, which are all consistent with its known expression pattern (12, 18, 19).
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CEO of Professional Science Editing for Scientists @ prosciediting.com