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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
10 de out. de 2016 · FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks.
- Lynn Y. Sakai, Douglas R. Keene, Marjolijn Renard, Julie De Backer
- 10.1016/j.gene.2016.07.033
- 2016
- 2016/10/10
30 de jul. de 2002 · Glucose transporter type 1 deficiency syndrome (Glut1 DS) should be suspected in individuals with one of the following two phenotypes. Classic Glut1 DS (~90% of affected individuals) Non-classic Glut1 DS (~10% of affected individuals)
26 de mar. de 2023 · Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder of connective tissue characterised by pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems.
- Peter N. Robinson, Maurice Godfrey
- 2000
17 de set. de 1999 · Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital.
5 de abr. de 2007 · We tested the hypothesis that mutations in the VANGL1 and VANGL2 genes cause neural-tube defects and abrogate the physical interaction of the VANGL1 protein and disheveled proteins.
7 de mai. de 2009 · Abstract. A mutation in ORAI1, the gene encoding the pore-forming subunit of the Ca 2+ -release–activated Ca 2+ (CRAC) channel, abrogates the store-operated entry of Ca 2+ into cells and impairs...
