Ciliopathies: an expanding disease spectrum

AM Waters, PL Beales - Pediatric nephrology, 2011 - Springer
Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

[HTML][HTML] Neurocristopathies: New insights 150 years after the neural crest discovery

GA Vega-Lopez, S Cerrizuela, C Tribulo… - Developmental biology, 2018 - Elsevier
The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

Enteric nervous system development: migration, differentiation, and disease

JI Lake, RO Heuckeroth - American Journal of Physiology …, 2013 - journals.physiology.org
The enteric nervous system (ENS) provides the intrinsic innervation of the bowel and is the
most neurochemically diverse branch of the peripheral nervous system, consisting of two …

Primary cilia in the developing and mature brain

A Guemez-Gamboa, NG Coufal, JG Gleeson - Neuron, 2014 - cell.com
Primary cilia were the largely neglected nonmotile counterparts of their better-known cousin,
the motile cilia. For years these nonmotile cilia were considered evolutionary remnants of …

Making sense of cilia in disease: the human ciliopathies

K Baker, PL Beales - American journal of medical genetics part …, 2009 - Wiley Online Library
Ubiquitous in nature, cilia and flagella comprise nearly identical structures with similar
functions. The most obvious example of the latter is motility: driving movement of the …

Transgenic fluorescent zebrafish lines that have revolutionized biomedical research

CP Choe, SY Choi, Y Kee, MJ Kim, SH Kim… - Laboratory Animal …, 2021 - Springer
Since its debut in the biomedical research fields in 1981, zebrafish have been used as a
vertebrate model organism in more than 40,000 biomedical research studies. Especially …

[PDF][PDF] Cranial integration and modularity: insights into evolution and development from morphometric data

CP Klingenberg - Hystrix, 2013 - iris.unimore.it
Morphological integration and modularity have become central concepts in evolutionary
biology and geometric morphometrics. This review summarizes the most frequently used …

Genetics of human Bardet–Biedl syndrome, an updates

SA Khan, N Muhammad, MA Khan, A Kamal… - Clinical …, 2016 - Wiley Online Library
Bardet–Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic
disorder characterized by six major defects including obesity, mental retardation, renal …

Development and developmental disorders of the enteric nervous system

F Obermayr, R Hotta, H Enomoto… - Nature reviews …, 2013 - nature.com
The enteric nervous system (ENS) arises from neural crest-derived cells that migrate into
and along the gut, leading to the formation of a complex network of neurons and glial cells …

Directional cell migration and chemotaxis in wound healing response to PDGF-AA are coordinated by the primary cilium in fibroblasts

L Schneider, M Cammer, J Lehman… - Cellular physiology and …, 2010 - karger.com
Cell motility and migration play pivotal roles in numerous physiological and
pathophysiological processes including development and tissue repair. Cell migration is …