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Type: Posts; User: findcure

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  1. CFTR is ultimately responsible for the symptoms,...

    CFTR is ultimately responsible for the symptoms, but it has modifier genes that will affect penetration of the mutations.
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    Sorry to hear the screening result. Your daughter...

    Sorry to hear the screening result. Your daughter has one copy of functioning CFTR, but the expression of this one copy is determined by another protein called TDP-43. Newborns have high TDP-43...
  3. Thread: Advice

    by findcure
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    3,210

    I am surprised that they did not send you to a GI...

    I am surprised that they did not send you to a GI specialist earlier after they heard you felt lucky to go 4-6 a month. How could you survive this? Once a week sounds so wrong. If you are truly...
  4. Hi mikej460, I am working on developing new drug...

    Hi mikej460, I am working on developing new drug for the treatment of CF. Would you like to share the kind of mutation that you carry? I am guessing it's the TG12-T5 or TG13-T3, or a combination with...
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    The 12T5 (5T) allele is a strong binding site for...

    The 12T5 (5T) allele is a strong binding site for a protein called TDP-43. The carrier will probably not get CF if TDP-43 is kept low like in normal people. But if somehow the expression of TDP-43...
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