Results 1 -
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28
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send syndrome
- ... network, which sorts proteins and other molecules and sends them to their intended destinations inside or outside the cell. The PACS1 protein is most active during development before birth.Almost all cases of PACS1 syndrome are caused by the same mutation. This and ...
- ... An inflammatory reaction occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair.The NOD2 gene mutations that cause Blau syndrome result in a NOD2 protein that is overactive, ...
- ... nephrin proteins on the surface of adjacent cells send and receive signals, allowing podocytes to communicate with one another. At least 250 mutations in the NPHS1 gene have been found to cause congenital nephrotic syndrome. This condition is a kidney disorder that begins ...
- ... network, which sorts proteins and other molecules and sends them to their intended ... cause PACS1 syndrome. This condition is characterized by intellectual disability, speech ...
- ... of the PROK2 gene mutations that cause Kallmann syndrome change single protein building blocks (amino acids) in prokineticin 2. These mutations disrupt the protein's activity, affecting its ability to bind to its receptor to send signals normally. Studies suggest that a loss of ...
- The LIFR gene provides instructions for making the leukemia inhibitory factor receptor (LIFR) protein. This receptor spans the cell membrane, which allows ...
- ... protein called tumor necrosis factor (TNF). This binding sends signals that can trigger the cell either to ...
- ... of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a ... Testing Registry: Chronic infantile neurological, cutaneous and articular syndrome Genetic Testing Registry: Familial amyloid nephropathy with urticaria ...
- The NOTCH1 gene provides instructions for making a protein called Notch1, a member of the Notch family of receptors. Receptor proteins have specific sites ...
- The NOTCH2 gene provides instructions for making a protein called Notch2, a member of the Notch family of receptors. Receptor proteins have specific sites ...
