Results 271 to 280 of about 384,167 (334)

ASCOT identifies key regulators of neuronal subtype-specific splicing [PDF]

, 2020
Blackshaw, Seth, Charles, Rone, Clark, Brian S., Ghosh, Devlina, Jiang, Lizhi, Langmead, Ben, Leavey, Patrick J., Ling, Jonathan P., Nellore, Abhinav, Pang, Bo, Santiago, Clayton P., Venkataraman, Anand, Wilks, Christopher   +12 more
core   +1 more source

Genome-wide investigation of differentially expressed alternative splicing and RNA-binding protein genes association with AML drug resistance [PDF]

Jingyi Wang, Yu-Mei Zhang, Xueyan Dong, Wei Zheng, Jie Xu, Zhenzhen Wang, Shumin Ding, Yingying Wang   +7 more
openalex   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Repetitive Editing and RNA Splicing

PLoS Biology, 2004
openaire   +3 more sources

HnRNP M expression rescues neurodegeneration in neuronal intranuclear inclusion disease mouse model by restoring dysregulated RNA splicing and transcription. [PDF]

Cell Biosci
Pan Y, Li Y, Jiang Y, Wang X, Wan J, Sun Q, Tian Y, Shen L, Jiang H, Tang B, Yao B, Liu Q.   +11 more
europepmc   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis. [PDF]

J Mol Diagn
Amiot J, Levacher C, Thibaut LM, Lienard G, Vasseur S, Quenez O, Coutant S, Fourneaux S, Charbonnier F, Thorn H, Legros A, Aucouturier C, Castéra L, Leman R, Kasper E, Baert-Desurmont S, Krieger S, Ruminy P, Houdayer C.   +18 more
europepmc   +1 more source

Presence of Negative and Positive cis-Acting RNA Splicing Elements within and Flanking the First tat Coding Exon of Human Immunodeficiency Virus Type 1

, 1994
Brad A. Amendt, D Hesslein, Lung‐Ji Chang, C. Martin Stoltzfus   +3 more
openalex   +2 more sources

Appraisal of Gene Expression‐Based Classifiers for Neuropsychiatric Disorders: A Meta‐Regression

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A substantial body of research examines the potential of gene‐expression‐based biomarkers for diagnosing and selecting treatments for neuropsychiatric disorders, yet no clear consensus has been reached regarding the influence of controllable factors such as study design and model selection on the performance of gene‐expression‐based ...
Ali Razavi, Brittany Arensman, Eric J. Barnett, Leo A. Lee, Stephen V. Faraone, Stephen J. Glatt, Jonathan L. Hess   +6 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source