 | | VARIANT: 4629v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
nt06539 Cytoskeleton in muscle cells |
| Disease |
| H00801 | Familial thoracic aortic aneurysm and dissection |
| H01869 | Megacystis microcolon intestinal hypoperistalsis syndrome |
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| Reference |
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| Authors |
Hashmi SK, Ceron RH, Heuckeroth RO |
| Title |
Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton. |
| Journal |
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| Reference |
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| Authors |
Pannu H, Tran-Fadulu V, Papke CL, Scherer S, Liu Y, Presley C, Guo D, Estrera AL, Safi HJ, Brasier AR, Vick GW, Marian AJ, Raman CS, Buja LM, Milewicz DM |
| Title |
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. |
| Journal |
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| Reference |
|
| Authors |
Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF |
| Title |
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. |
| Journal |
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| LinkDB |
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