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Carmen C Leitch
Carmen C Leitch
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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
BL Loeys, J Chen, ER Neptune, DP Judge, M Podowski, T Holm, ...
Nature genetics 37 (3), 275-281, 2005
19662005
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
JB Li, JM Gerdes, CJ Haycraft, Y Fan, TM Teslovich, H May-Simera, H Li, ...
Cell 117 (4), 541-552, 2004
8542004
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
SJ Ansley, JL Badano, OE Blacque, J Hill, BE Hoskins, CC Leitch, ...
Nature 425 (6958), 628-633, 2003
8272003
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
AJ Ross, H May-Simera, ER Eichers, M Kai, J Hill, DJ Jagger, CC Leitch, ...
Nature genetics 37 (10), 1135-1140, 2005
6732005
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
JM Gerdes, Y Liu, NA Zaghloul, CC Leitch, SS Lawson, M Kato, ...
Nature genetics 39 (11), 1350-1360, 2007
4732007
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
CC Leitch, NA Zaghloul, EE Davis, C Stoetzel, A Diaz-Font, S Rix, ...
Nature genetics 40 (4), 443-448, 2008
4682008
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
JC Kim, JL Badano, S Sibold, MA Esmail, J Hill, BE Hoskins, CC Leitch, ...
Nature genetics 36 (5), 462-470, 2004
4582004
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
HM Kulaga, CC Leitch, ER Eichers, JL Badano, A Lesemann, BE Hoskins, ...
Nature genetics 36 (9), 994-998, 2004
4192004
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
C Stoetzel, V Laurier, EE Davis, J Muller, S Rix, JL Badano, CC Leitch, ...
Nature genetics 38 (5), 521-524, 2006
3422006
Dissection of epistasis in oligogenic Bardet–Biedl syndrome
JL Badano, CC Leitch, SJ Ansley, H May-Simera, S Lawson, RA Lewis, ...
Nature 439 (7074), 326-330, 2006
3152006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
C Stoetzel, J Muller, V Laurier, EE Davis, NA Zaghloul, S Vicaire, ...
The American Journal of Human Genetics 80 (1), 1-11, 2007
2912007
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
JL Badano, SJ Ansley, CC Leitch, RA Lewis, JR Lupski, N Katsanis
The American Journal of Human Genetics 72 (3), 650-658, 2003
2692003
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis
JC Kim, YY Ou, JL Badano, MA Esmail, CC Leitch, E Fiedrich, PL Beales, ...
Journal of cell science 118 (5), 1007-1020, 2005
2002005
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
J Muller, C Stoetzel, MC Vincent, CC Leitch, V Laurier, JM Danse, S Hellé, ...
Human genetics 127, 583-593, 2010
1452010
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome
NA Zaghloul, Y Liu, JM Gerdes, C Gascue, EC Oh, CC Leitch, Y Bromberg, ...
Proceedings of the National Academy of Sciences 107 (23), 10602-10607, 2010
1422010
RFX transcription factors are essential for hearing in mice
R Elkon, B Milon, L Morrison, M Shah, S Vijayakumar, M Racherla, ...
Nature communications 6 (1), 8549, 2015
1262015
Basal body proteins regulate Notch signaling through endosomal trafficking
CC Leitch, S Lodh, V Prieto-Echagüe, JL Badano, NA Zaghloul
Journal of cell science 127 (11), 2407-2419, 2014
1072014
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators
YP Liu, IC Tsai, M Morleo, EC Oh, CC Leitch, F Massa, BH Lee, DS Parker, ...
The Journal of clinical investigation 124 (5), 2059-2070, 2014
1062014
ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response
AA Adeyemo, NA Zaghloul, G Chen, AP Doumatey, CC Leitch, ...
Nature communications 10 (1), 3195, 2019
772019
TM6SF2 rs58542926 impacts lipid processing in liver and small intestine
EA O'Hare, R Yang, LM Yerges‐Armstrong, U Sreenivasan, R McFarland, ...
Hepatology 65 (5), 1526-1542, 2017
762017
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