WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

Yeon-Joo Kim; Daniel P. S. Osborn; Ji-Young Lee; Masatake Araki; Kimi Araki; Timothy Mohun; Johanna Känsäkoski; Nina Brandstack; Hyun-Taek Kim; Francesc Miralles; Cheol-Hee Kim; Nigel A. Brow; Hyung-Goo Kim; Juan Pedro Martinez-Barbera; Paris Ataliotis; Taneli Raivio; Lawrence C. Layman; Soo-Hyun Kim

doi:10.15252/embr.201744632

WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

Yeon-Joo Kim, Daniel P. S. Osborn, Ji-Young Lee, Masatake Araki, Kimi Araki, Timothy Mohun, Johanna Känsäkoski, Nina Brandstack, Hyun-Taek Kim, Francesc Miralles, Cheol-Hee Kim, Nigel A. Brow, Hyung-Goo Kim, Juan Pedro Martinez-Barbera, Paris Ataliotis, Taneli Raivio, Lawrence C. Layman, Soo-Hyun Kim

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	EMBO Reports
Volume	19
Issue number	2
Pages (from-to)	269-289
Number of pages	21
ISSN	1469-221X
DOIs	https://doi.org/10.15252/embr.201744632
Publication status	Published - Feb 2018
MoE publication type	A1 Journal article-refereed

Fields of Science

ciliopathy
hedgehog signal pathway
hypogonadotropic hypogonadism
kallmann syndrome
WDR11
CONGENITAL HYPOGONADOTROPIC HYPOGONADISM
PRIMARY CILIA
HORMONE NEURONS
ELECTRON-MICROSCOPY
MUTANT MICE
PROTEIN
GENE
PATHWAY
DISEASE
MOUSE
3111 Biomedicine

Access to Document

10.15252/embr.201744632Licence: CC BY

WDR11Final published version, 3.74 MBLicence: CC BY

Cite this

Kim, Y.-J., Osborn, D. P. S., Lee, J.-Y., Araki, M., Araki, K., Mohun, T., Känsäkoski, J., Brandstack, N., Kim, H.-T., Miralles, F., Kim, C.-H., Brow, N. A., Kim, H.-G., Martinez-Barbera, J. P., Ataliotis, P., Raivio, T., Layman, L. C., & Kim, S.-H. (2018). WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. EMBO Reports, 19(2), 269-289. https://doi.org/10.15252/embr.201744632

@article{e512c4a2b2214718b58d3a67417b4ab3,

title = "WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome",

keywords = "ciliopathy, hedgehog signal pathway, hypogonadotropic hypogonadism, kallmann syndrome, WDR11, CONGENITAL HYPOGONADOTROPIC HYPOGONADISM, PRIMARY CILIA, HORMONE NEURONS, ELECTRON-MICROSCOPY, MUTANT MICE, PROTEIN, GENE, PATHWAY, DISEASE, MOUSE, 3111 Biomedicine",

author = "Yeon-Joo Kim and Osborn, {Daniel P. S.} and Ji-Young Lee and Masatake Araki and Kimi Araki and Timothy Mohun and Johanna K{\"a}ns{\"a}koski and Nina Brandstack and Hyun-Taek Kim and Francesc Miralles and Cheol-Hee Kim and Brow, {Nigel A.} and Hyung-Goo Kim and Martinez-Barbera, {Juan Pedro} and Paris Ataliotis and Taneli Raivio and Layman, {Lawrence C.} and Soo-Hyun Kim",

year = "2018",

month = feb,

doi = "10.15252/embr.201744632",

language = "English",

volume = "19",

pages = "269--289",

journal = "EMBO Reports",

issn = "1469-221X",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "2",

}

Kim, Y-J, Osborn, DPS, Lee, J-Y, Araki, M, Araki, K, Mohun, T, Känsäkoski, J , Brandstack, N, Kim, H-T, Miralles, F, Kim, C-H, Brow, NA, Kim, H-G, Martinez-Barbera, JP, Ataliotis, P, Raivio, T, Layman, LC & Kim, S-H 2018, 'WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome', EMBO Reports, vol. 19, no. 2, pp. 269-289. https://doi.org/10.15252/embr.201744632

TY - JOUR

T1 - WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

AU - Kim, Yeon-Joo

AU - Osborn, Daniel P. S.

AU - Lee, Ji-Young

AU - Araki, Masatake

AU - Araki, Kimi

AU - Mohun, Timothy

AU - Känsäkoski, Johanna

AU - Brandstack, Nina

AU - Kim, Hyun-Taek

AU - Miralles, Francesc

AU - Kim, Cheol-Hee

AU - Brow, Nigel A.

AU - Kim, Hyung-Goo

AU - Martinez-Barbera, Juan Pedro

AU - Ataliotis, Paris

AU - Raivio, Taneli

AU - Layman, Lawrence C.

AU - Kim, Soo-Hyun

PY - 2018/2

Y1 - 2018/2

KW - ciliopathy

KW - hedgehog signal pathway

KW - hypogonadotropic hypogonadism

KW - kallmann syndrome

KW - WDR11

KW - CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

KW - PRIMARY CILIA

KW - HORMONE NEURONS

KW - ELECTRON-MICROSCOPY

KW - MUTANT MICE

KW - PROTEIN

KW - GENE

KW - PATHWAY

KW - DISEASE

KW - MOUSE

KW - 3111 Biomedicine

U2 - 10.15252/embr.201744632

DO - 10.15252/embr.201744632

M3 - Article

SN - 1469-221X

VL - 19

SP - 269

EP - 289

JO - EMBO Reports

JF - EMBO Reports

IS - 2

ER -