Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels
about
AMD and the alternative complement pathway: genetics and functional implicationsMapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.Complement Dysregulation and Disease: Insights from Contemporary Genetics.Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patientsSystematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.THE PATHOPHYSIOLOGY OF GEOGRAPHIC ATROPHY SECONDARY TO AGE-RELATED MACULAR DEGENERATION AND THE COMPLEMENT PATHWAY AS A THERAPEUTIC TARGET.The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation.Systemic complement activation and complement gene analysis in enterohaemorrhagic Escherichia coli-associated paediatric haemolytic uraemic syndrome.Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.Further studies of the down-regulation by Factor I of the C3b feedback cycle using endotoxin as a soluble activator and red cells as a source of CR1 on sera of different complotype.The Complement Regulatory Protein CD46 Deficient Mouse Spontaneously Develops Dry-Type Age-Related Macular Degeneration-Like Phenotype.Complement factor H in AMD: Bridging genetic associations and pathobiology.Macular Degeneration Epidemiology: Nature-Nurture, Lifestyle Factors, Genetic Risk, and Gene-Environment Interactions - The Weisenfeld Award Lecture.Hemolytic Uremic Syndrome in Pregnancy and Postpartum.Targeting factor D of the alternative complement pathway reduces geographic atrophy progression secondary to age-related macular degeneration.Diseases of complement dysregulation-an overview.The eye as a complement dysregulation hotspot.Expanding horizons in complement drug discovery: challenges and emerging strategies.Contribution of Adipose-Derived Factor D/Adipsin to Complement Alternative Pathway Activation: Lessons from Lipodystrophy.Classical and alternative complement activation on photoreceptor outer segments drives monocyte-dependent retinal atrophy.Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's MembraneBe on Target: Strategies of Targeting Alternative and Lectin Pathway Components in Complement-Mediated Diseases
P2860
Q26744106-7FF8D73B-53D5-44B7-8B27-36C1F41DA689Q36116190-EA34ABF7-D79B-4E42-A106-9D519F683252Q36221928-B82307E6-C762-4870-90EA-917E51F94109Q36241014-FC29DB6D-EC03-4516-829A-5001BAA60581Q38914781-0A61684B-0852-41C5-8A87-FDC9534D3291Q39024579-6F93064C-AC03-4C45-B232-7238FFDC1967Q39034874-C4FAB478-8036-4717-A4FF-5234C6595307Q39229604-1C84880B-3187-4899-8C1D-C3DED476EE62Q39758002-FF7EC619-6A32-48F9-B23E-0C57C5FFE10AQ40409510-34417333-DD29-4B7A-96FD-BAAE6B8C94E7Q40977039-3B94F760-56EA-4E27-88C0-F0BF02586497Q42044277-E5CBC08E-261C-4429-9BA4-96ED2F288A34Q46022690-B97CB0A7-3DFF-4817-8ABA-5AC8666FFE16Q47149024-EBE69F10-EF92-485B-AF9E-11CB0CE1EFF6Q47736433-AB1332D5-3EE5-4A8E-869D-A181E7949800Q48240873-9B0665D0-0BFA-49A4-82A7-3B88789EF924Q48256943-37474C8E-6173-41EB-851B-DCEC8897383CQ48290530-00DB7CEC-C118-4CB8-9CCA-C7DAA3961125Q49439487-9D1904E6-779D-478E-915E-A686CBD9F392Q52659567-4BEA9032-BA3C-4559-B08C-6B9E7F2C7931Q55031290-C1442090-0492-4371-AB42-F58E8C9DA30EQ58777917-AF4EF6CD-5718-47DC-B00F-8FA771B407E3Q58795472-0A9E89BB-C2F9-46A2-89F1-80F7B7B22C33
P2860
Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Rare genetic variants in the C ...... reduced serum factor I levels
@ast
Rare genetic variants in the C ...... reduced serum factor I levels
@en
type
label
Rare genetic variants in the C ...... reduced serum factor I levels
@ast
Rare genetic variants in the C ...... reduced serum factor I levels
@en
prefLabel
Rare genetic variants in the C ...... reduced serum factor I levels
@ast
Rare genetic variants in the C ...... reduced serum factor I levels
@en
P2093
P2860
P356
P1476
Rare genetic variants in the C ...... reduced serum factor I levels
@en
P2093
David Kavanagh
Elizabeth C Schramm
Erin K Wagner
Johanna M Seddon
John P Atkinson
Michael Triebwasser
Soumya Raychaudhuri
P2860
P304
P356
10.1093/HMG/DDV091
P577
2015-03-18T00:00:00Z