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Moreover, it will allow the design of innovative therapeutic strategies for these pathologies based on the specific molecular defects causing the disease.
In conclusion, the present study demonstrates the heterogeneity of molecular defects causing beta-thalassemia in Thai children.
Ongoing candidate gene/protein analyses in radiosensitive cancer patients are expected to yield further examples of the range of molecular defects causing human radiosensitivity.
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The Drosophila model can also be used to provide insights on the mysteries surrounding the molecular defects caused by mutant lamins.
Uncompensable infertility defects may result from molecular defects caused by abnormalities in spermatozoal DNA, RNA, or proteins, which impair the ability of spermatozoa to interact with oocytes and induce embryonic development [ 4- 6].
We have investigated this question using a biochemical in vitro approach to understand the molecular defects caused by the mutation and a mouse model of PHA2E to better understand the physiological basis of the effects of CUL3Δ403 459.
The sctt maternal-/zygotic- germ cell phenotype suggested that the molecular defect causing this phenotype represents a severe loss of function.
We observed reduced telomeric overhang lengths in the affected cells, providing an insight into the molecular defect causing the disease in this family and possibly also in other DC and HHS patients.
We suggest that FRG1 misregulation in a specific window of muscle differentiation may contribute to FSHD, although it cannot be considered the only molecular defect causing the FSHD phenotype: for example, the transcription of DUX4 recently observed in FSHD myoblasts [ 14, 16] may contribute to the manifestation of FSHD.
Our elucidation of the molecular defect caused by mutations in Rab7 illustrates an alternative mechanism: toxic misregulation of native function.
In the respiratory tract, this molecular defect causes obstruction of the airways by mucus and chronic endobronchial infection.
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