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RTTN gene

Known as: DKFZP434G145, ROTATIN, RTTN 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2001-2017
012320012017

Papers overview

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2018
2018
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
BACKGROUND The RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been… (More)
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2017
2017
Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles
Mutations in many centriolar protein-encoding genes cause primary microcephaly. Using super-resolution and electron microscopy… (More)
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2017
2017
Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges
PurposeWe investigated the diagnostic and clinical performance of exome sequencing in fetuses with sonographic abnormalities with… (More)
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2017
2017
Variant analysis of RNA sequences in severe equine asthma
Background. Severe equine asthma is a chronic inflammatory disease of the lung in horses similar to low-Th2 late-onset asthma in… (More)
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2016
2016
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Primary autosomal recessive microcephaly (MCPH) is a developmental disorder characterized by prenatal onset of abnormal brain… (More)
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2015
2015
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the… (More)
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2012
2012
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
Polymicrogyria is a malformation of the developing cerebral cortex caused by abnormal organization and characterized by many… (More)
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2010
2010
The prevention and the cure, improvement measures of noise and vibration in hydraulic system of CNC machine tool
The noise and the vibration produced from hydraulic system of CNC machine tool seriously affect the normal use of CNC machine… (More)
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2007
2007
Nt mutation causing laterality defects associated with deletion of rotatin
No turning (nt), a recessive lethal mutation causing left-right and axial patterning defects, was recovered in outbred CD-1 mice… (More)
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2002
2002
Rotatin is a novel gene required for axial rotation and left–right specification in mouse embryos
The genetic cascade that governs left-right (L-R) specification is starting to be elucidated. In the mouse, the lateral asymmetry… (More)
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