|
๐ฆ
|
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
22 auth.
E. Otto,
B. Schermer,
T. Obara,
John F. O'Toole,
Karl S. Hiller,
A. M. Mueller,
R. Ruf,
J. Hoefele,
Frank Beekmann,
D. Landau,
...
J. Foreman,
J. Goodship,
T. Strachan,
A. Kispert,
M. T. Wolf,
M. Gagnadoux,
H. Nivet,
C. Antignac,
G. Walz,
I. Drummond,
T. Benzing,
F. Hildebrandt
|
9 |
2003 |
9
๐ฆ
|
|
๐
|
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition
14 auth.
F. Garcia-Gonzalo,
K. Corbit,
M. Sirerol-Piquer,
Gokul Ramaswami,
E. Otto,
Thomas R. Noriega,
Allen D. Seol,
Jon F. Robinson,
C. L. Bennett,
D. Josifova,
...
J. Garcรญa-Verdugo,
N. Katsanis,
F. Hildebrandt,
Jeremy F. Reiter
|
9 |
2011 |
9
๐
|
|
๐
|
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
32 auth.
L. Sang,
Julie J. Miller,
K. Corbit,
R. Giles,
Matthew J. Brauer,
E. Otto,
L. M. Baye,
Xiaohui Wen,
S. Scales,
M. Kwong,
E. Huntzicker,
Mindan K. Sfakianos,
W. Sandoval,
J. Bazan,
Priya Kulkarni,
...
F. Garcia-Gonzalo,
Allen D. Seol,
John F. O'Toole,
Susanne Held,
H. Reutter,
William Arbuthnot Sir Lane,
M. Rafiq,
A. Noor,
M. Ansar,
A. R. R. Devi,
V. Sheffield,
D. Slusarski,
J. Vincent,
D. Doherty,
F. Hildebrandt,
Jeremy F. Reiter,
P. Jackson
|
9 |
2011 |
9
๐
|
|
๐
|
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
42 auth.
J. Sayer,
E. Otto,
John F. O'Toole,
G. Nurnberg,
M. Kennedy,
C. Becker,
H. Hennies,
Juliana Helou,
M. Attanasio,
B. Fausett,
B. Utsch,
H. Khanna,
Yan Liu,
I. Drummond,
I. Kawakami,
...
T. Kusakabe,
M. Tsuda,
Li Ma,
H. Lee,
Ronald G. Larson,
Susan J Allen,
C. Wilkinson,
E. Nigg,
C. Shou,
C. Lillo,
David S. Williams,
B. Hoppe,
M. Kemper,
T. Neuhaus,
M. Parisi,
I. Glass,
M. Petry,
A. Kispert,
J. Gloy,
A. Ganner,
G. Walz,
Xueliang Zhu,
D. Goldman,
P. Nurnberg,
A. Swaroop,
M. Leroux,
F. Hildebrandt
|
9 |
2006 |
9
๐
|
|
๐
|
Barttin is a Cl- channel ฮฒ-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion
7 auth.
R. Estรฉvez,
T. Boettger,
V. Stein,
R. Birkenhรคger,
E. Otto,
F. Hildebrandt,
...
T. Jentsch
|
9 |
2001 |
9
๐
|
|
๐
|
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
47 auth.
Bernward Hinkes,
R. Wiggins,
R. Gbadegesin,
C. Vlangos,
D. Seelow,
G. Nรผrnberg,
P. Garg,
R. Verma,
H. Chaib,
B. Hoskins,
S. Ashraf,
C. Becker,
H. Hennies,
M. Goyal,
B. Wharram,
...
A. Schachter,
S. Mudumana,
I. Drummond,
D. Kerjaschki,
R. Waldherr,
A. Dietrich,
F. Ozaltฤฑn,
A. Bakkaloฤlu,
R. Cleper,
L. BaselโVanagaite,
M. Pohl,
M. Griebel,
A. Tsygin,
A. Soylu,
D. Mรผller,
Caroline Sorli,
T. D. Bunney,
M. Katan,
Jinhong Liu,
M. Attanasio,
John F. O'Toole,
K. Hasselbacher,
Bettina E. Mucha,
E. Otto,
R. Airik,
A. Kispert,
G. Kelley,
A. Smrcka,
T. Gudermann,
L. Holzman,
P. Nรผrnberg,
F. Hildebrandt
|
9 |
2006 |
9
๐
|
|
๐
|
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
19 auth.
R. Birkenhรคger,
E. Otto,
M. Schรผrmann,
M. Vollmer,
Eva-Maria Ruf,
Irina Maier-Lutz,
Frank Beekmann,
Andrea Fekete,
H. Omran,
D. Feldmann,
...
D. Milford,
N. Jeck,
M. Konrad,
D. Landau,
N. Knoers,
C. Antignac,
R. Sudbrak,
A. Kispert,
F. Hildebrandt
|
8 |
2001 |
8
๐
|
|
๐
|
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
22 auth.
R. Ruf,
P. Xu,
Derek Silvius,
E. Otto,
Frank Beekmann,
Ulla Muerb,
Shrawan Kumar,
T. Neuhaus,
M. Kemper,
R. M. Raymond,
...
P. Brophy,
J. Berkman,
M. Gattas,
V. Hyland,
Eva-Maria Ruf,
C. Schwartz,
Eugene H. Chang,
Richard J. H. Smith,
C. Stratakis,
D. Weil,
C. Petit,
F. Hildebrandt
|
8 |
2004 |
8
๐
|
|
๐ฆ
|
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
33 auth.
E. Otto,
B. Loeys,
H. Khanna,
J. Hellemans,
R. Sudbrak,
Shuling Fan,
Ulla Muerb,
John F. O'Toole,
Juliana Helou,
M. Attanasio,
B. Utsch,
J. Sayer,
C. Lillo,
D. Jimeno,
P. Coucke,
...
A. Paepe,
R. Reinhardt,
S. Klages,
M. Tsuda,
I. Kawakami,
T. Kusakabe,
H. Omran,
A. Imm,
Melissa Tippens,
P. Raymond,
Josephine Hill,
P. Beales,
Shirley He,
A. Kispert,
B. Margolis,
David S. Williams,
A. Swaroop,
F. Hildebrandt
|
8 |
2005 |
8
๐ฆ
|
|
๐
|
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
20 auth.
B. Chang,
H. Khanna,
N. Hawes,
D. Jimeno,
Shirley He,
C. Lillo,
S. Parapuram,
Hong Cheng,
A. Scott,
R. Hurd,
...
J. Sayer,
E. Otto,
M. Attanasio,
John F. O'Toole,
Geng-lin Jin,
C. Shou,
F. Hildebrandt,
David S. Williams,
J. Heckenlively,
A. Swaroop
|
8 |
2006 |
8
๐
|
|
๐
|
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
25 auth.
Vincent Cantagrel,
J. Silhavy,
S. Bielas,
Dominika Swistun,
S. E. Marsh,
Julien Y Bertrand,
S. Audollent,
T. Attiรฉ-Bitach,
Kenton R. Holden,
W. Dobyns,
D. Traver,
L. Al-Gazali,
Bassam R. Ali,
Tom H Lindner,
T. Caspary,
...
E. Otto,
F. Hildebrandt,
Ian A. Glass,
C. Logan,
Colin A. Johnson,
C. Bennett,
F. Brancati,
E. M. Valente,
C. Woods,
Joseph G Gleeson
|
8 |
2008 |
8
๐
|
|
๐
|
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
73 auth.
M. Chaki,
R. Airik,
A. Ghosh,
R. Giles,
Rui Chen,
G. Slaats,
Hui Wang,
T. Hurd,
Weibin Zhou,
A. Cluckey,
H. Gee,
Gokul Ramaswami,
Chen-Jei Hong,
B. A. Hamilton,
I. ฤervenka,
...
R. Ganji,
V. Bryja,
H. Arts,
J. V. Reeuwijk,
M. Oud,
S. Letteboer,
R. Roepman,
H. Husson,
O. Ibraghimov-Beskrovnaya,
Takayuki Yasunaga,
G. Walz,
L. Eley,
J. Sayer,
B. Schermer,
M. Liebau,
T. Benzing,
S. L. Corre,
I. Drummond,
Sabine Janssen,
Susan J Allen,
S. Natarajan,
John F. O'Toole,
M. Attanasio,
S. Saunier,
C. Antignac,
R. Koenekoop,
H. Ren,
I. Lopez,
A. Nayฤฑr,
C. Stoetzel,
H. Dollfus,
R. Massoudi,
J. Gleeson,
S. Andreoli,
D. Doherty,
Anna Lindstrad,
C. Golzio,
N. Katsanis,
L. Pape,
E. Abboud,
A. AlโRajhi,
R. Lewis,
H. Omran,
E. Y. Lee,
Shaohui Wang,
JoAnn Sekiguchi,
Rudel A Saunders,
Colin A. Johnson,
E. Garner,
K. Vanselow,
J. Andersen,
J. Shlomai,
G. Nurnberg,
P. Nurnberg,
S. Levy,
A. Smogorzewska,
E. Otto,
F. Hildebrandt
|
8 |
2012 |
8
๐
|
