Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families (Q35026701)

5 August 2017

title

Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families (English)

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atypical hemolytic uremic syndrome

5 August 2017

main subject

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Taieb Ben Abdallah

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5 August 2017

Imen Sfar

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5 August 2017

Khaled Ayed

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5 August 2017

Houda Aouadi

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5 August 2017

Yousr Gorgi

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5 August 2017

Mouna Makhlouf

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5 August 2017

Imen Habibi

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5 August 2017

Walid Ben Alaya

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5 August 2017

Jihen Methlouthi

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5 August 2017

Abdelkrim Ayadi

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5 August 2017

Mounira Brahim

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5 August 2017

Jacques Blouin

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5 August 2017

Raoudha Dhagbouj

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5 August 2017

Thouraya Ben Rhomdhane

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5 August 2017

Saloua Ayed-Jendoubi

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5 August 2017

Véronique Fremeaux-Bacchi

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5 August 2017

Tahar Sfar

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5 August 2017

language of work or name

English

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publication date

1 July 2010

1 reference

International Journal of Nephrology and Renovascular Disease

5 August 2017

published in

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5 August 2017

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5 August 2017

page(s)

85-92

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Atypical hemolytic-uremic syndrome

5 August 2017

cites work

1 reference

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Hemolytic uremic syndrome due to homozygous factor H deficiency

8 July 2018

1 reference

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The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.

8 July 2018

1 reference

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Complement factor H related proteins in immune diseases

8 July 2018

1 reference

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Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness

8 July 2018

1 reference

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Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations

8 July 2018

1 reference

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Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome

8 July 2018

1 reference

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Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains

8 July 2018

1 reference

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The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models

8 July 2018

1 reference

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Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation

8 July 2018

1 reference

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Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome

8 July 2018

1 reference

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Disease-associated sequence variations congregate in a polyanion recognition patch on human factor H revealed in three-dimensional structure

8 July 2018

1 reference

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Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions

8 July 2018

1 reference

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Non-enteropathic hemolytic uremic syndrome: causes and short-term course.

8 July 2018

1 reference

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Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases

8 July 2018

1 reference

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Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

8 July 2018

1 reference

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Guidelines on the diagnosis and management of the thrombotic microangiopathic haemolytic anaemias

8 July 2018

1 reference

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Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome

8 July 2018

1 reference

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Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic syndrome and a predicted heparin binding site

8 July 2018

1 reference

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Thrombotic microangiopathy, hemolytic uremic syndrome, and thrombotic thrombocytopenic purpura

8 July 2018

1 reference

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The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

8 July 2018

1 reference

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Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes

8 July 2018

1 reference

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Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency

8 July 2018

1 reference

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Genetic studies into inherited and sporadic hemolytic uremic syndrome

8 July 2018

1 reference

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Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism

8 July 2018

1 reference

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C3b deposition during activation of the alternative complement pathway and the effect of deposition on the activating surface

8 July 2018

1 reference

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Human complement C3b inactivator: isolation, characterization, and demonstration of an absolute requirement for the serum protein beta1H for cleavage of C3b and C4b in solution

8 July 2018

1 reference

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Modulation of the alternative complement pathways by beta 1 H globulin

8 July 2018

1 reference

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E. coli, antibiotics, and the hemolytic-uremic syndrome

8 July 2018

1 reference

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25 October 2018

Identifiers

PMC publication ID

3108774

1 reference

5 August 2017

1 reference