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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
30 auth.
Mathieu Lemaire,
V. Frémeaux-Bacchi,
F. Schaefer,
Murim Choi,
W. Tang,
M. Le Quintrec,
F. Fakhouri,
S. Taque,
F. Nobili,
F. Martínez,
W. Ji,
J. Overton,
S. Mane,
G. Nürnberg,
J. Altmüller,
...
H. Thiele,
D. Morin,
G. Deschênes,
V. Baudouin,
B. Llanas,
L. Collard,
M. Majid,
E. Simkova,
P. Nürnberg,
N. Rioux-leclerc,
G. Moeckel,
M. Gubler,
J. Hwa,
C. Loirat,
R. Lifton
|
8 |
2013 |
8
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🐜
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Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
57 auth.
Lin Wang,
D. Aschenbrenner,
Zhiyang Zeng,
Xiya Cao,
D. Mayr,
M. Mehta,
M. Capitani,
N. Warner,
Jie Pan,
Liren Wang,
Qi Li,
T. Zuo,
S. Cohen-Kedar,
Jiawei Lu,
R. Ardy,
...
D. Mulder,
D. Dissanayake,
Kaiyue Peng,
Zhiheng Huang,
Xiaoqin Li,
Yuesheng Wang,
Xiaobing Wang,
Shuchao Li,
S. Bullers,
Anís N. Gammage,
K. Warnatz,
A. Schiefer,
G. Kriván,
V. Goda,
W. Kahr,
Mathieu Lemaire,
Helen R. Sophie Griffin Hambleton,
H. Griffin,
S. Hambleton,
Chien-Yi Lu,
I. Siddiqui,
M. Surette,
D. Kotlarz,
Karin R. Engelhardt,
R. Rottapel,
H. Decaluwe,
R. Laxer,
M. Proietti,
S. Hambleton,
Suzanne E. Elcombe,
C. Guo,
B. Grimbacher,
I. Dotan,
S. Ng,
S. Freeman,
S. Snapper,
C. Klein,
K. Boztug,
Ying Huang,
Dali Li,
H. Uhlig,
A. Muise
|
6 |
2021 |
6
🐜
|
|
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CDC25B Phosphorylation by p38 and MK-2
7 auth.
Mathieu Lemaire,
C. Froment,
R. Boutros,
O. Mondésert,
A. Nebreda,
B. Monsarrat,
...
B. Ducommun
|
5 |
2006 |
5
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|
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Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
18 auth.
C. Mele,
Mathieu Lemaire,
Paraskevas Iatropoulos,
R. Piras,
E. Bresin,
Serena Bettoni,
D. Bick,
D. Helbling,
Regan L. Veith,
E. Valoti,
...
R. Donadelli,
L. Murer,
Maria Neunhäuserer,
M. Breno,
V. Frémeaux-Bacchi,
R. Lifton,
G. Remuzzi,
M. Noris
|
5 |
2015 |
5
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|
|
🐜
|
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
23 auth.
K. Ažukaitis,
E. Simkova,
M. A. Majid,
M. Galiano,
K. Benz,
K. Amann,
C. Bockmeyer,
Radha Gajjar,
K. Meyers,
H. Cheong,
...
Bärbel Lange-Sperandio,
T. Jungraithmayr,
V. Frémeaux-Bacchi,
C. Bergmann,
C. Bereczki,
M. Miklaszewska,
D. Csuka,
Z. Prohászka,
P. Killen,
P. Gipson,
M. Sampson,
Mathieu Lemaire,
F. Schaefer
|
5 |
2017 |
5
🐜
|
|
🦁
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Iron-containing micronutrient powder provided to children with moderate-to-severe malnutrition increases hemoglobin concentrations but not the risk of infectious morbidity: a randomized, double-blind, placebo-controlled, noninferiority safety trial.
10 auth.
Mathieu Lemaire,
Q. S. Islam,
Hua Shen,
M. Khan,
M. Parveen,
Fahmida Abedin,
...
F. Haseen,
Z. Hyder,
R. Cook,
S. Zlotkin
|
5 |
2011 |
5
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|
|
🦁
|
Inherited Kidney Complement Diseases
Mathieu Lemaire,
D. Noone,
Anne-Laure Lapeyraque,
C. Licht,
V. Frémeaux-Bacchi
|
5 |
2021 |
5
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|
|
🐢
|
Diacylglycerol Kinase-ε: Properties and Biological Roles
R. Epand,
Vincent So,
W. Jennings,
Bijendra Khadka,
Radhey S. Gupta,
Mathieu Lemaire
|
4 |
2016 |
4
🐢
|
|
🐜
|
A variant in a cis‐regulatory element enhances claudin‐14 expression and is associated with pediatric‐onset hypercalciuria and kidney stones
14 auth.
Megan Ure,
Emma Heydari,
Wanling Pan,
A. Ramesh,
Saba Rehman,
Catherine J Morgan,
M. Pinsk,
Robin L. Erickson,
J. Herrmann,
H. Dimke,
...
Emmanuelle Cordat,
Mathieu Lemaire,
M. Walter,
R. T. Alexander
|
4 |
2017 |
4
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|
