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Results 1 - 10 of 13 for HELIX syndrome
  1. PTEN gene 
    ... L, Eng C. 65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine. Endocr Relat Cancer. ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  2. TCF4 gene 
    ... TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. ...
    https://medlineplus.gov/genetics/gene/tcf4 - Genetics
  3. TWIST1 gene 
    ... Transcription factor TWIST TWIST twist basic helix-loop-helix transcription factor 1 Twist Homolog twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) twist homolog 1 (Drosophila) TWST1_HUMAN Tests ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  4. ORC6 gene 
    ... E, Botchan MR, Berger JM. A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation. Elife. ...
    https://medlineplus.gov/genetics/gene/orc6 - Genetics
  5. CXCR4 gene 
    ... NPYR NPYRL NPYY3R SDF-1 receptor seven transmembrane helix receptor seven-transmembrane-segment receptor, spleen stromal cell-derived factor 1 receptor Tests of CXCR4 PubMed CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4 WHIM SYNDROME 1; WHIMS1 NCBI Gene ClinVar Cao Y, Hunter ...
    https://medlineplus.gov/genetics/gene/cxcr4 - Genetics
  6. COL2A1 gene 
    ... MP. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Am J Hum Genet. 2000 Nov;67(5): ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  7. MESP2 gene 
    ... of MESP2 PubMed ... PD, Pourquie O. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008 Jun;82(6): ...
    https://medlineplus.gov/genetics/gene/mesp2 - Genetics
  8. TWNK gene 
    ... and temporarily unwinds the two spiral strands (double helix) of the DNA molecule. ... ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia ( ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  9. BLM gene 
    The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach (bind) to DNA and unwind ...
    https://medlineplus.gov/genetics/gene/blm - Genetics
  10. RECQL4 gene 
    The RECQL4 gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
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