Results 181 to 190 of about 5,628,138 (356)
Rab8a and Rab8b are essential for several apical transport pathways but insufficient for ciliogenesis [PDF]
, 2013 The small GTP-binding protein Rab8 is known to play an essential role in intracellular transport and cilia formation. We have previously demonstrated that Rab8a is required for localising apical markers in various organisms.
A. Harada +10 more
core +2 more sources
Cancer as a Ciliopathy: The Primary Cilium as a New Therapeutic Target [PDF]
, 2015 Javier S. Castresana
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde +12 more
wiley +1 more source
The Primary Cilium as a Novel Extracellular Sensor in Bone
Frontiers in Endocrinology, 2012 Mechanically induced adaptation of bone is required to maintain a healthy skeleton and defects in this process can lead to dramatic changes in bone mass, resulting in bone diseases such as osteoporosis.
David A Hoey +2 more
doaj +1 more source
Photoreceptor Outer Segment-like Structures in Long-Term 3D Retinas from Human Pluripotent Stem Cells. [PDF]
, 2017 The retinal degenerative diseases, which together constitute a leading cause of hereditary blindness worldwide, are largely untreatable. Development of reliable methods to culture complex retinal tissues from human pluripotent stem cells (hPSCs) could ...
Angueyra, Juan M +9 more
core +1 more source
The Ciliary Protein Arl13b Functions Outside of the Primary Cilium in Shh-Mediated Axon Guidance
Cell Reports, 2019 SUMMARY The small GTPase Arl13b is enriched in primary cilia and regulates Sonic hedgehog (Shh) signaling. During neural development, Shh controls patterning and proliferation through a canonical, transcription-dependent pathway that requires the primary
J. Ferent +8 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
The Primary Cilium is a Self-Adaptable, Integrating Nexus for Mechanical Stimuli and Cell Signaling [PDF]
, 2015 An M. Nguyen +2 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi +6 more
wiley +1 more source
PI3K Class II α Controls Spatially Restricted Endosomal PtdIns3P and Rab11 Activation to Promote Primary Cilium Function [PDF]
, 2014 Irene Franco +18 more
openalex +1 more source