New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3

New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3

aHUS (atypical haemolytic uraemic syndrome), AMD (age-related macular degeneration) and other diseases are associated with defective AP (alternative pathway) regulation. CFH (complement factor H), CFI (complement factor I), MCP (membrane cofactor protein) and C3 exhibited the most disease-associate...

Full description

Bibliographic Details
Main Authors:	Elizabeth Rodriguez, Pavithra M. Rallapalli, Amy J. Osborne, Stephen J. Perkins
Format:	Article
Language:	English
Published:	Portland Press, Biochemical Society 2014-10-01
Series:	Bioscience Reports
Subjects:	age-related macular degeneration alternative pathway atypical haemolytic uraemic syndrome complement structure immunodeficiency diseases mutation database
Online Access:	http://www.bioscirep.org/bsr/034/e146/bsr034e146.htm

Similar Items

An update for atypical haemolytic uraemic syndrome: Diagnosis and treatment. A consensus document
by: Josep M. Campistol, et al.
Published: (2015-09-01)

Complement Pathway Associated Glomerulopathies
by: Yasar Caliskan
Published: (2016-01-01)

Prevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England
by: Alexander J. Hamilton, et al.
Published: (2013-09-01)

A patient with a homozygous diacylglycerol kinase epsilon (DGKE) gene mutation with atypical haemolytic uraemic syndrome and low C3 responded well to eculizumab: a case report
by: Muneera Alabdulqader, et al.
Published: (2021-04-01)

Complement Genetic Variants and FH Desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome
by: Irene Gómez Delgado, et al.
Published: (2021-03-01)

CLINICAL AND PARACLINICAL PICTURE IN HAEMOLYTIC-URAEMIC SYNDROME IN CHILDREN
by: Maria Daniela Tănăsescu, et al.
Published: (2008-12-01)

THE EVOLUTION AND TREATMENT IN HAEMOLYTIC-URAEMIC SYNDROME IN CHILDREN
by: Maria Daniela Tănăsescu, et al.
Published: (2008-12-01)

Postdiarrhoeal haemolytic uraemic syndrome without thrombocytopenia
by: Alejandro Balestracci, et al.
Published: (2017-09-01)

Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family
by: Pilar Sánchez-Corral, et al.
Published: (2018-07-01)

Advances in complement factor H gene in age-related macular degeneration
by: Jin-Tao Xia, et al.
Published: (2015-01-01)

Colonic stricture as a complication of haemolytic uraemic syndrome
by: Megan Grinlinton, et al.
Published: (2017-12-01)

Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant
by: Minh Thuan Nguyen Tran, et al.
Published: (2019-03-01)

Complement system and age-related macular degeneration: drugs and challenges
by: Wu J, et al.
Published: (2019-07-01)

Advances in study of complement activation and autophagy on age-related macular degeneration
by: Yu-Lu Liu, et al.
Published: (2020-06-01)

Mechanism of oxidative stress and complement in the pathogenesis of age-related macular degeneration
by: Yan-Fang Xiang, et al.
Published: (2013-08-01)

Haemolytic uraemic syndrome - a rare case report of bloody diarrhoea in adults
by: Shiva Thambiah Radhakrishnan, et al.
Published: (2019-08-01)

Complement Factor H Y402H and LOC387715 A69S Polymorphisms in Association with Age-Related Macular Degeneration in Iran
by: Hossein Nazari Khanamiri, et al.
Published: (2014-01-01)

Combined Acute Haemolytic and Secondary Angle Closure Glaucoma following Spontaneous Intraocular Haemorrhages in a Patient on Warfarin
by: Walter Andreatta, et al.
Published: (2016-11-01)

Effect of Complement Factor B Gene Polymorphisms on Age-Related Macular Degeneration in North-East of Iran Population
by: N. Roshani Pour, et al.
Published: (2017-09-01)

Associations between the Complement System and Choroidal Neovascularization in Wet Age-Related Macular Degeneration
by: Emilie Grarup Jensen, et al.
Published: (2020-12-01)

Non-O157:H7 Shiga Toxin Producing Diarrhoeagenic Escherichia coli (Stec) in Southern India: A Tinderbox for Starting Epidemic
by: SHASHANK PURWAR, et al.
Published: (2016-10-01)

Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent
by: Bärbel Rohrer, et al.
Published: (2019-02-01)

Complement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H Mutation
by: Irina N. Lupan, et al.
Published: (2019-02-01)

Systemic Complement Activation Profiles in Nonexudative Age-Related Macular Degeneration: A Meta-Analysis
by: Lin, J.B, et al.
Published: (2022)

Novel mutations in the DGKE gene in two indian patients with early-onset atypical haemolytic uraemic syndrome
by: Jyoti Sharma, et al.
Published: (2021-01-01)

End-stage kidney disease due to haemolytic uraemic syndrome – outcomes in 241 consecutive ANZDATA registry cases
by: Tang Wen, et al.
Published: (2012-12-01)

Complement System and Potential Therapeutics in Age-Related Macular Degeneration
by: Young Gun Park, et al.
Published: (2021-06-01)

Complement Inhibition for Geographic Atrophy: A Tempting Target with Mixed Results
by: Jonathan B. Lin, et al.
Published: (2021-06-01)

Leptospirosis presenting as haemolytic uraemic syndrome: a case report
by: Vasantha Muthu Muthuppalaniappan, et al.
Published: (2018-01-01)

The Regulation of AMD Pathobiology by Complement Factor H
by: Toomey, Christopher B.
Published: (2016)

Age-Related Macular Degeneration: A Disease of Systemic or Local Complement Dysregulation?
by: Alasdair Warwick, et al.
Published: (2014-11-01)

Haemolytic-uraemic syndrome with bacteraemia caused by a new hybrid Escherichia coli pathotype
by: P. Mariani-Kurkdjian, et al.
Published: (2014-07-01)

Comparison of clinical and immunological findings in gnotobiotic piglets infected with Escherichia coli O104:H4 outbreak strain and EHEC O157:H7
by: Bettina Wöchtl, et al.
Published: (2017-05-01)

The Challenges and Promise of Complement Therapeutics for Ocular Diseases
by: Dong Ho Park, et al.
Published: (2019-05-01)

Treatment of Chemotherapy-Induced Thrombotic Microangiopathy with Eculizumab in a Patient with Metastatic Breast Cancer
by: Martin Hausberg, et al.
Published: (2019-01-01)

Complement factor H and LOC387715/ARMS2/HTRA1 variant's frequencies and phenotypic associations in neovascular age-related macular degeneration, a pilot study
by: Reza Karkhane, et al.
Published: (2016-03-01)

Interlink between Inflammation and Oxidative Stress in Age-Related Macular Degeneration: Role of Complement Factor H
by: Sara Romero-Vazquez, et al.
Published: (2021-06-01)

A life-threatening case of pregnancy-related atypical Haemolytic uremic syndrome and successful treatment with Eculizumab
by: Prianka Puri, et al.
Published: (2020-11-01)

Association of the porcine <it>C3 </it>gene with haemolytic complement activity in the pig
by: Mekchay Supamit, et al.
Published: (2003-06-01)

Enteroaggregative Shiga toxin-producing Escherichia coli of serotype O104:H4 in Belgium and Luxembourg
by: K. De Rauw, et al.
Published: (2014-09-01)

Cannot write session to /tmp/vufind_sessions/sess_errdqm6jsfu7b13tbp28g4fe8a