Volume 136, Issue 9

Search all Human Genetics articles

September 2017

Special issue From mechanisms to therapy: RNA processing’s impact on human genetics

Issue Editors:

Luiz O. Penalva,
Jeremy R. Sanford

19 articles in this issue

From mechanisms to therapy: RNA processing’s impact on human genetics
Luiz O. Penalva
Jeremy R. Sanford
Editorial 02 September 2017 Pages: 1013 - 1014
Part of 2 collections:

RNA Processing

RNA Processing
Alternative splicing: the pledge, the turn, and the prestige
L. M. Gallego-Paez
M. C. Bordone
N. L. Barbosa-Morais
Review Open access 03 April 2017 Pages: 1015 - 1042
Part of 2 collections:

RNA Processing

RNA Processing
Intron retention as a component of regulated gene expression programs
Aishwarya G. Jacob
Christopher W. J. Smith
Review Open access 08 April 2017 Pages: 1043 - 1057
Part of 2 collections:

RNA Processing

RNA Processing
Estimating the prevalence of functional exonic splice regulatory information
Rosina Savisaar
Laurence D. Hurst
Review Open access 12 April 2017 Pages: 1059 - 1078
Part of 2 collections:

RNA Processing

RNA Processing
The activity of the serotonin receptor 2C is regulated by alternative splicing
Stefan Stamm
Samuel B. Gruber
Ronald B. Emeson
Review 29 June 2017 Pages: 1079 - 1091
Part of 2 collections:

RNA Processing

RNA Processing
Deep intronic mutations and human disease
Rita Vaz-Drago
Noélia Custódio
Maria Carmo-Fonseca
Review 12 May 2017 Pages: 1093 - 1111
Part of 2 collections:

RNA Processing

RNA Processing
The role of RNA alternative splicing in regulating cancer metabolism
Itamar Kozlovski
Zahava Siegfried
Rotem Karni
Review 20 April 2017 Pages: 1113 - 1127
Part of 2 collections:

RNA Processing

RNA Processing
RNA processing as an alternative route to attack glioblastoma
Fabiana Marcelino Meliso
Christopher G. Hubert
Luiz O. Penalva
Review 12 June 2017 Pages: 1129 - 1141
Part of 2 collections:

RNA Processing

RNA Processing
RNA splicing and splicing regulator changes in prostate cancer pathology
Jennifer Munkley
Karen Livermore
David J. Elliott
Review Open access 05 April 2017 Pages: 1143 - 1154
Part of 2 collections:

RNA Processing

RNA Processing
Normal and altered pre-mRNA processing in the DMD gene
Sylvie Tuffery-Giraud
Julie Miro
Mireille Claustres
Review 09 June 2017 Pages: 1155 - 1172
Part of 2 collections:

RNA Processing

RNA Processing
SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities
Catherine E. Dominguez
David Cunningham
Dawn S. Chandler
Review 29 August 2017 Pages: 1173 - 1191
Part of 2 collections:

RNA Processing

RNA Processing
Genetic mutations in RNA-binding proteins and their roles in ALS
Katannya Kapeli
Fernando J. Martinez
Gene W. Yeo
Review Open access 31 July 2017 Pages: 1193 - 1214
Part of 2 collections:

RNA Processing

RNA Processing
Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders
Vittoria Pagliarini
Piergiorgio La Rosa
Claudio Sette
Review 22 April 2017 Pages: 1215 - 1235
Part of 2 collections:

RNA Processing

RNA Processing
Modulation of aberrant splicing in human RNA diseases by chemical compounds
Naoyuki Kataoka
Review 31 March 2017 Pages: 1237 - 1245
Part of 2 collections:

RNA Processing

RNA Processing
Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions
Ginny R. Morriss
Thomas A. Cooper
Review 08 May 2017 Pages: 1247 - 1263
Part of 2 collections:

RNA Processing

RNA Processing
ADAR RNA editing in human disease; more to it than meets the I
Angela Gallo
Dragana Vukic
Liam P. Keegan
Review 14 September 2017 Pages: 1265 - 1278
Part of 2 collections:

RNA Processing

RNA Processing
regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution
Xinjun Zhang
Meng Li
Yunlong Liu
Original Investigation Open access 08 April 2017 Pages: 1279 - 1289
Part of 2 collections:

RNA Processing

RNA Processing
A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD
Natoya Peart
Eric J. Wagner
Original Investigation 24 May 2017 Pages: 1291 - 1301
Part of 2 collections:

RNA Processing

RNA Processing
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas
Kamil J. Cygan
Rachel Soemedi
William G. Fairbrother
Original Investigation 05 August 2017 Pages: 1303 - 1312
Part of 2 collections:

RNA Processing

RNA Processing

Volume 136, Issue 9

From mechanisms to therapy: RNA processing’s impact on human genetics

Alternative splicing: the pledge, the turn, and the prestige

Intron retention as a component of regulated gene expression programs

Estimating the prevalence of functional exonic splice regulatory information

The activity of the serotonin receptor 2C is regulated by alternative splicing

Deep intronic mutations and human disease

The role of RNA alternative splicing in regulating cancer metabolism

RNA processing as an alternative route to attack glioblastoma

RNA splicing and splicing regulator changes in prostate cancer pathology

Normal and altered pre-mRNA processing in the DMD gene

SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities

Genetic mutations in RNA-binding proteins and their roles in ALS

Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders

Modulation of aberrant splicing in human RNA diseases by chemical compounds

Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions

ADAR RNA editing in human disease; more to it than meets the I

regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution

A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD

Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas

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