Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
about
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves.MASP-3 is the exclusive pro-factor D activator in resting blood: the lectin and the alternative complement pathways are fundamentally linkedMannan-Binding Lectin-Associated Serine Protease 1/3 Cleavage of Pro-Factor D into Factor D In Vivo and Attenuation of Collagen Antibody-Induced Arthritis through Their Targeted Inhibition by RNA Interference-Mediated Gene Silencing.Endogenous Natural Complement Inhibitor Regulates Cardiac Development.Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement.Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.Targeting of Liver Mannan-Binding Lectin-Associated Serine Protease-3 with RNA Interference Ameliorates Disease in a Mouse Model of Rheumatoid ArthritisBe on Target: Strategies of Targeting Alternative and Lectin Pathway Components in Complement-Mediated Diseases
P2860
Q30090229-E34A1C97-B1F0-417C-9998-B305B0EE6235Q33668282-116A5033-E043-4090-A225-8F0FD9C424D4Q37184863-67867E68-91D6-4B7A-922E-0FBD01A641CDQ42750928-F895EB6B-3251-4F7F-9729-1527602A5EB6Q47073088-296B72BA-A9AA-40AE-844C-F5A8EDE93BA1Q47971257-BB9F06E4-9AE3-4ACE-865D-8B83481AE60EQ53202519-7C1ED6C7-1A65-4DDE-812A-B640013C020CQ58770443-0ED20860-1629-46D7-8242-A7393A8A8902Q58795472-5CAECC86-E31C-4A45-9081-11BDC5F82DA5
P2860
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
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Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
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type
label
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
@ast
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
@en
prefLabel
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
@ast
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
@en
P2093
P2860
P50
P1476
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
@en
P2093
Asuman Koparir
Ferda Ozkinay
Gulsen A Tayfun
Gül Yesiltepe Mutlu
Hulya Kayserili
Joseph Foster
Nursel Elcioglu
Sarah Bowdin
Sevinc Sahin Atik
Tahir Atik
P2860
P2888
P356
10.1186/S13023-015-0345-3
P577
2015-09-30T00:00:00Z
P5875
P6179
1021432606