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  1. Provided to YouTube by The Orchard EnterprisesDefect 1: Gene (Remix) · Tom Ze · Sasha Frere-JonesPost Modern Platos℗ 1999 Luaka Bop, Inc.Released on: 1999-07...

    • 5 min
    • 372
    • Tom Zé - Topic
  2. 17 de sept. de 1999 · DM1 is caused by expansion of a CTG trinucleotide repeat in the noncoding region of DMPK. The diagnosis of DM1 is suspected in individuals with characteristic muscle weakness and is confirmed by molecular genetic testing of DMPK. CTG repeat length exceeding 34 repeats is abnormal.

  3. 10 de oct. de 2016 · FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection.

    • Lynn Y. Sakai, Douglas R. Keene, Marjolijn Renard, Julie De Backer
    • 10.1016/j.gene.2016.07.033
    • 2016
    • 2016/10/10
  4. 18 de mar. de 2021 · Our previous study demonstrated that mutation of the Arabidopsis turgor regulation defect 1 (TOD1) gene leads to reduced male fertility, a result of retarded pollen tube growth in the pistil. TOD1 encodes a Golgi-localized alkaline ceramidase, a key enzyme for the production of sphingosine-1-phosphate (S1P), which is involved in the ...

    • Chang-Jiao Ke, Xian-Ju Lin, Bao-Yu Zhang, Li-Yu Chen
    • 2021
  5. 19 de may. de 2024 · Listen to Defect 1: Gene (Remix) by Tom Zé. See lyrics and music videos, find Tom Zé tour dates, buy concert tickets, and more!

  6. 14 de mar. de 2022 · Laron syndrome, or primary GH insensitivity ( OMIM#262500 ), is an autosomal recessive disease caused by mutations in the GHR gene, leading to GH resistance and dwarfism. LS constitutes the...

  7. 1 de mar. de 2024 · This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols.