Results 161 to 170 of about 16,795 (294)

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Clinical Case Reports
Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD). Although the link between trisomy 13 and PKD is recognized, the timing and progression of renal cyst development remain ...
Fumiko Yamabe, Takahiro Shindo, Kentaro Haneda, Yoshiyuki Namai, Yutaka Harita   +4 more
doaj   +1 more source

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

, 2017
Y. Kim, Daniel P. S. Osborn, Ji‐Young Lee, Masatake Araki, Kimi Araki, Timothy J. Mohun, Johanna Känsäkoski, Nina Brandstack, Hyun–Taek Kim, Francesc Miralles, Cheol‐Hee Kim, Nigel A. Brown, Hyung‐Goo Kim, Juan Pedro Martı́nez-Barberá, Paris Ataliotis, Taneli Raivio, Lawrence C. Layman, Soo‐Hyun Kim   +17 more
openalex   +1 more source

Remodeling Cildb, a popular database for cilia and links for ciliopathies [PDF]

, 2014
Olivier Arnaiz, Jean Cohen, Anne‐Marie Tassin, France Koll   +3 more
openalex   +1 more source

Multicellular modeling of ciliopathy by combining iPS cells and microfluidic airway-on-a-chip technology [PDF]

, 2021
Naoyuki Sone, Satoshi Konishi, Koichi Igura, Koji Tamai, Satoshi Ikeo, Y. Korogi, Shuhei Kanagaki, T. Namba, Yuki Yamamoto, Yifei Xu, Kazuhiko Takeuchi, Yuichi Adachi, Toyofumi F. Chen‐Yoshikawa, Hiroshi Date, Masatoshi Hagiwara, Sachiko Tsukita, Toyohiro Hirai, Yu‐suke Torisawa, Shimpei Gotoh   +18 more
openalex   +1 more source

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans [PDF]

, 2019
Ranad Shaheen, Nan Jiang, Fatema Alzahrani, Nour Ewida, Tarfa Al‐Sheddi, Eman Alobeid, Damir Musaev, Valentina Stanley, Mais Hashem, Niema Ibrahim, Firdous Abdulwahab, Abduljabbar Alshenqiti, Fatma Müjgan Sönmez, Nadia Saqati, Hamad Alzaidan, Mohammad M. Al‐Qattan, Futwan Al‐Mohanna, Joseph G. Gleeson, Fowzan S. Alkuraya   +18 more
openalex   +1 more source

Understanding primary ciliary dyskinesia and other ciliopathies.

Jornal de Pediatria, 2020
A. Horani, T. Ferkol
semanticscholar   +1 more source

Editorial: The Cytoskeleton and Cellular Compartmentation: Cilia as Specialized Cellular Domains

Frontiers in Cell and Developmental Biology, 2021
Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Helena Soares, Helena Soares, Susana S. Lopes, Takanari Inoue, Takanari Inoue   +8 more
doaj   +1 more source

Primary cilia biogenesis and associated retinal ciliopathies

Seminars in Cell and Developmental Biology, 2020
H. Chen, Ryan A. Kelley, Tiansen Li, A. Swaroop   +3 more
semanticscholar   +1 more source

Ciliopathy

Nihon Shoni Jinzobyo Gakkai Zasshi, 2012
Koichi Nakanishi, Norishige Yoshikawa
openaire   +2 more sources

Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers [PDF]

, 2011
Maha S. Zaki, Shifteh Sattar, Rustin Massoudi, Joseph G. Gleeson   +3 more
openalex   +1 more source