(Q40415559)

20 September 2017

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations (English)

1 reference

20 September 2017

1 reference

Stephanie Boisson-Dupuis

7

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20 September 2017

8

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20 September 2017

29

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20 September 2017

30

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20 September 2017

Jean-Laurent Casanova

32

1 reference

20 September 2017

Nadia Chuzhanova

4

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Mehdi Mirsaeidi

Mehdi Mirsaeidi

16

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Jacinta Bustamante

Jacinta Bustamante

10

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Ariane Chapgier

Ariane Chapgier

2

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Soheila Khalilzadeh

Soheila Khalilzadeh

17

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Guillaume Vogt

Guillaume Vogt

1

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Claire Soudais

Claire Soudais

31

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Davood Mansouri

Davood Mansouri

26

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Oscar de la Calle-Martin

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Jennifer M Puck

21

Jennifer M Puck

1 reference

20 September 2017

22

Hans D Ochs

1 reference

20 September 2017

6

Claire Fieschi

1 reference

20 September 2017

Abdulaziz Al-Ghonaium

14

Abdulaziz Al-Ghonaium

1 reference

20 September 2017

5

Jacqueline Feinberg

1 reference

20 September 2017

Kun Yang

3

1 reference

20 September 2017

Orchidée Filipe-Santos

9

1 reference

20 September 2017

Ludovic de Beaucoudrey

11

1 reference

20 September 2017

Ibrahim Al-Mohsen

12

1 reference

20 September 2017

Sami Al-Hajjar

13

1 reference

20 September 2017

Parisa Adimi

15

1 reference

20 September 2017

Sergio Rosenzweig

18

1 reference

20 September 2017

Oscar de la Calle Martin

19

1 reference

20 September 2017

Thomas R Bauer

20

1 reference

20 September 2017

Dieter Furthner

23

1 reference

20 September 2017

Carolin Engelhorn

24

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20 September 2017

Bernd Belohradsky

25

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20 September 2017

Steven M Holland

27

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20 September 2017

Robert D Schreiber

28

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20 September 2017

language of work or name

English

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publication date

29 May 2005

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20 September 2017

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20 September 2017

37

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20 September 2017

692-700

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20 September 2017

7

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https://scigraph.springernature.com/pub.10.1038/ng1581

20 September 2017

0 references

cites work

Genetic dissection of immunity to mycobacteria: the human model

1 reference

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection

21 January 2018

1 reference

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

21 January 2018

1 reference

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

21 January 2018

1 reference

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection

21 January 2018

1 reference

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

21 January 2018

1 reference

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

21 January 2018

1 reference

Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation

21 January 2018

1 reference

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors.

21 January 2018

1 reference

The human model: a genetic dissection of immunity to infection in natural conditions

21 January 2018

1 reference

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma

21 January 2018

1 reference

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis

21 January 2018

1 reference

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

21 January 2018

1 reference

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

21 January 2018

1 reference

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

21 January 2018

1 reference

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

21 January 2018

1 reference

A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states

21 January 2018

1 reference

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

21 January 2018

1 reference

A genetic approach to Mammalian glycan function

21 January 2018

1 reference

Characterization of glycoproteins and their associated oligosaccharides through the use of endoglycosidases

21 January 2018

1 reference

Glycosidase inhibitors: update and perspectives on practical use.

21 January 2018

1 reference

Synthesis, purification and structural and functional characterization of recombinant form of a common genetic variant of human luteinizing hormone

21 January 2018

1 reference

A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi

21 January 2018

1 reference

Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site

21 January 2018

1 reference

21 January 2018

1 reference

Hemophilia A due to mutations that create new N-glycosylation sites

21 January 2018

1 reference

L273S missense substitution in human lysosomal acid lipase creates a new N-glycosylation site.

21 January 2018

1 reference

Fibrinogen Kaiserslautern (gamma 380 Lys to Asn): a new glycosylated fibrinogen variant with delayed polymerization

21 January 2018

1 reference

A novel CFTR disease-associated mutation causes addition of an extra N-linked oligosaccharide

21 January 2018

1 reference

Thrombophilic dysfibrinogen Tokyo V with the amino acid substitution of gammaAla327Thr: formation of fragile but fibrinolysis-resistant fibrin clots and its relevance to arterial thromboembolism.

21 January 2018

1 reference

Human Gene Mutation Database (HGMD): 2003 update.

21 January 2018

1 reference

A combined transmembrane topology and signal peptide prediction method

21 January 2018

1 reference

Cotranslational membrane protein biogenesis at the endoplasmic reticulum

21 January 2018

1 reference

Familial CD8 deficiency due to a mutation in the CD8 alpha gene.

21 January 2018

1 reference

A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity

21 January 2018

1 reference

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

21 January 2018

1 reference

Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome

21 January 2018

1 reference

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

21 January 2018

1 reference

Concepts and principles of O-linked glycosylation

21 January 2018

1 reference

The additionally glycosylated variant of human sex hormone‐binding globulin (SHBG) is linked to estrogen‐dependence of breast cancer

21 January 2018

1 reference

A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome

21 January 2018

1 reference

7 January 2021

Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis

1 reference

7 January 2021

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome

1 reference

7 January 2021

Co- and posttranslational translocation mechanisms direct cystic fibrosis transmembrane conductance regulator N terminus transmembrane assembly

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1581

1 reference

Dimensions Publication ID

20 September 2017

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1 reference