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Results 1 - 9 of 9 for Abnormality of fluid regulation
  1. ITPR1 gene 
    ... called the endoplasmic reticulum into the surrounding cell fluid (the cytoplasm). Proper ... involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics
  2. HNF1B gene 
    ... diabetes, people with RCAD typically also have kidney abnormalities (primarily fluid-filled sacs called cysts). Affected individuals may also have abnormalities of the pancreas, liver, or genital tract; or ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  3. CDKN1B gene 
    ... controlling cell division, its activity is tightly regulated. Regulation can occur ... in the fluid that surrounds the nucleus (the cytoplasm) instead of ...
    https://medlineplus.gov/genetics/gene/cdkn1b - Genetics
  4. CYP11B1 gene 
    ... CYP11B1 gene. These changes in the gene's regulation and structure diminish ... leads to abnormalities of sexual development in people with CAH due ...
    https://medlineplus.gov/genetics/gene/cyp11b1 - Genetics
  5. FLNA gene 
    ... another. Impaired adhesion alters cells that line the fluid-filled cavities near the center of the brain ( ... role of its first repeats in small-GTPase regulation. Biochim Biophys Acta. 2014 Feb;1843(2):234- ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  6. FOLR1 gene 
    ... called the choroid plexus. This region releases cerebrospinal fluid (CSF), which surrounds and protects the brain and ... tissue, a condition known as leukodystrophy. These brain abnormalities caused by a lack of folate lead to ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  7. EMD gene 
    ... a barrier between the nucleus and the surrounding fluid (cytoplasm) inside the cell. The nuclear envelope has ... L. Nuclear membrane protein emerin: roles in gene regulation, actin dynamics and human disease. Novartis Found Symp. ...
    https://medlineplus.gov/genetics/gene/emd - Genetics
  8. ABCB7 gene 
    ... where they are formed, to the surrounding cellular fluid (cytosol), where they can be incorporated into proteins. ... with coordination and balance (ataxia) and other movement abnormalities. More About This Health Condition ABC transporter 7 ...
    https://medlineplus.gov/genetics/gene/abcb7 - Genetics
  9. CYP11B2 gene 
    ... control blood pressure by maintaining proper salt and fluid levels in the body. The aldosterone synthase enzyme ... synthase (CYP11B2) on steroid synthesis and blood pressure regulation. Mol Cell Endocrinol. 2004 Mar 31;217(1- ...
    https://medlineplus.gov/genetics/gene/cyp11b2 - Genetics