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🐜
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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
10 auth.
C. Bennett,
J. Christie,
F. Ramsdell,
M. Brunkow,
P. Ferguson,
L. Whitesell,
...
T. Kelly,
F. Saulsbury,
P. Chance,
H. Ochs
|
11 |
2001 |
11
🐜
|
|
🦁
|
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
10 auth.
M. Brunkow,
E. Jeffery,
K. Hjerrild,
B. Paeper,
L. Clark,
Sue-Ann Yasayko,
...
J. Wilkinson,
D. Galas,
S. Ziegler,
F. Ramsdell
|
11 |
2001 |
11
🦁
|
|
🐢
|
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
16 auth.
R. Wildin,
F. Ramsdell,
J. Peake,
F. Faravelli,
J. Casanova,
N. Buist,
E. Levy-Lahad,
M. Mazzella,
O. Goulet,
L. Perroni,
...
F. Bricarelli,
G. Byrne,
M. Mceuen,
S. Proll,
M. Appleby,
M. Brunkow
|
10 |
2001 |
10
🐢
|
|
🐜
|
Osteocyte control of bone formation via sclerostin, a novel BMP antagonist
13 auth.
D. Winkler,
M. Sutherland,
James C. Geoghegan,
Changpu Yu,
T. Hayes,
J. Skonier,
D. Shpektor,
M. Jonas,
Brian R. Kovacevich,
K. Staehling‐Hampton,
...
M. Appleby,
M. Brunkow,
J. Latham
|
10 |
2003 |
10
🐜
|
|
🦁
|
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.
18 auth.
M. Brunkow,
J. Gardner,
J. Ness,
B. Paeper,
Brian R. Kovacevich,
S. Proll,
J. Skonier,
L. Zhao,
P. Sabo,
Ying-Hui Fu,
...
Reid S. Alisch,
Lucille Gillett,
T. Colbert,
P. Tacconi,
D. Galas,
H. Hamersma,
P. Beighton,
J. Mulligan
|
9 |
2001 |
9
🦁
|
|
🐜
|
Epigenetic mechanisms underlying the imprinting of the mouse H19 gene.
23 auth.
Brian Sager,
Dale Kaiser,
Y. Bignon,
Yumay Chen,
C. Chang,
Daniel J. Riley,
J. J. Windle,
L. Mellon,
Wen-Hwa Lee,
Marisa S. Bartolomei,
...
Andrea L. Webber,
M. Brunkow,
Shirley M. Tilghman,
Kristin A. Kalla,
Ram A. Sack,
Michael G. Rosenfeld,
James W. Erickson,
Thomas W. Cline,
C. Loer,
Cynthia Kenyon,
S. Tafuri,
Alan P. Wolffe,
Agneta H. Brown
|
9 |
1993 |
9
🐜
|
|
🐢
|
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.
13 auth.
K. Staehling‐Hampton,
S. Proll,
B. Paeper,
Lei Zhao,
P. Charmley,
A. Brown,
J. Gardner,
D. Galas,
R. Schatzman,
P. Beighton,
...
S. Papapoulos,
H. Hamersma,
M. Brunkow
|
8 |
2002 |
8
🐢
|
|
🐜
|
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome
9 auth.
C. Bennett,
M. Brunkow,
F. Ramsdell,
K. O'Briant,
Qili Zhu,
R. Fuleihan,
...
A. Shigeoka,
H. Ochs,
P. Chance
|
7 |
2001 |
7
🐜
|
|
🐬
|
Cellular and molecular characterization of the scurfy mouse mutant.
Clark Lb,
M. Appleby,
M. Brunkow,
J. Wilkinson,
S. Ziegler,
F. Ramsdell
|
7 |
1999 |
7
🐬
|
|
🦁
|
Ectopic expression of the H19 gene in mice causes prenatal lethality.
M. Brunkow,
Shirley M. Tilghman
|
7 |
1991 |
7
🦁
|
|
🐜
|
Rare variants in neuronal excitability genes influence risk for bipolar disorder
24 auth.
S. Ament,
S. Szelinger,
Gwênlyn Glusman,
J. Ashworth,
L. Hou,
N. Akula,
T. Shekhtman,
J. Badner,
M. Brunkow,
Denise E. Mauldin,
...
Anna-Barbara Stittrich,
K. Rouleau,
S. Detera-Wadleigh,
J. Nurnberger,
H. Edenberg,
E. Gershon,
N. Schork,
N. Price,
R. Gelinas,
L. Hood,
D. Craig,
F. McMahon,
J. Kelsoe,
J. Roach
|
7 |
2015 |
7
🐜
|
|
🐢
|
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites.
13 auth.
A. Uitterlinden,
P. Arp,
B. Paeper,
P. Charmley,
S. Proll,
F. Rivadeneira,
Yue Fang,
J. V. van Meurs,
T. Britschgi,
J. Latham,
...
R. Schatzman,
H. Pols,
M. Brunkow
|
7 |
2004 |
7
🐢
|
|
🐜
|
The Amount of Scurfin Protein Determines Peripheral T Cell Number and Responsiveness1
8 auth.
R. Khattri,
Deborah J. Kasprowicz,
T. Cox,
M. Mortrud,
M. Appleby,
M. Brunkow,
...
S. Ziegler,
F. Ramsdell
|
6 |
2001 |
6
🐜
|
