Uncovering the role of genetic polymorphisms in cervical insufficiency
International Journal of Gynecology &Obstetrics, EarlyView.Pathways and genes implicated in CI pathogenesis. Abstract Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid‐trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks.
Kallirhoe Kalinderi +3 more
wiley +1 more source
Correct splicing of a group II intron from a chimeric reporter gene transcript in tobacco plastids
, 1995 Ralph Bock, Pál Maliga
openalex +2 more sources
Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase. [PDF]
Nucleic Acids Res, 2018 Carrell ST +4 more
europepmc +1 more source
PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide
JPGN Reports, EarlyView.Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley +1 more source
A Highly Proliferative Group IIC Intron from Geobacillus stearothermophilus Reveals New Features of Group II Intron Mobility and Splicing. [PDF]
J Mol Biol, 2018 Mohr G +7 more
europepmc +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo +14 more
wiley +1 more source
The group II intron maturase: a reverse transcriptase and splicing factor go hand in hand. [PDF]
Curr Opin Struct Biol, 2017 Zhao C, Pyle AM.
europepmc +1 more source
Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Movement Disorders, EarlyView.Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu +17 more
wiley +1 more source
Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia
Movement Disorders, EarlyView.Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing +22 more
wiley +1 more source
Structure of a Thermostable Group II Intron Reverse Transcriptase with Template-Primer and Its Functional and Evolutionary Implications. [PDF]
Mol Cell, 2017 Stamos JL, Lentzsch AM, Lambowitz AM.
europepmc +1 more source