Results 91 to 100 of about 388,485 (239)

Latent rank change detection for analysis of splice-junction microarrays with nonlinear effects

, 2011
Alternative splicing of gene transcripts greatly expands the functional capacity of the genome, and certain splice isoforms may indicate specific disease states such as cancer.
Burns, Suzanne, Burton, Tarea, Gelfond, Jonathan, Penalva, Luiz O. F., Sogayar, Mari, Zarzabal, Lee Ann   +5 more
core   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Blue cone monochromacy: causative mutations and associated phenotypes. [PDF]

, 2009
PurposeTo perform a phenotypic assessment of members of three British families with blue cone monochromatism (BCM), and to determine the underlying molecular genetic basis of disease.MethodsAffected members of three British families with BCM were ...
Gardner, Jessica C, Hardcastle, Alison J, Holder, Graham E, Kanuga, Naheed, Michaelides, Michel, Mollon, John D, Moore, Anthony T, Webb, Tom R   +7 more
core   +3 more sources

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

The CRL7FBXW8 Complex Controls the Mammary Stem Cell Compartment through Regulation of NUMB Levels

Advanced Science, EarlyView.
In breast cancer (BC), NUMB loss of function (LOF) is common and mainly driven by protein hyper‐degradation. The CRL7FBXW8 complex is the E3 ligase responsible for NUMB degradation. Inhibition of CRL7FBXW8 in NUMB‐LOF BC cells restores NUMB levels, and decreases the number of cancer stem cells and tumorigenic ability in vivo. Targeting CRL7FBXW8 offers
Simone Sabbioni, Maria Grazia Filippone, Letizia Amadori, Stefano Confalonieri, Roberta Bonfanti, Stefano Capoano, Ivan Nicola Colaluca, Stefano Freddi, Giovanni Bertalot, Giovanni Fagà, Elisa Zagarrí, Mario Varasi, Rosalind Helen Gunby, Ciro Mercurio, Salvatore Pece, Pier Paolo Di Fiore, Daniela Tosoni   +16 more
wiley   +1 more source

Bilirubin Targeting WNK1 to Alleviate NLRP3‐Mediated Neuroinflammation

Advanced Science, EarlyView.
At physiological concentrations, bilirubin binds to the kinase domain of WNK1, thereby augmenting its activity and facilitating the phosphorylation of downstream SPAK/OSR1. This phosphorylation inhibits KCC2 activity, leading to elevate intracellular chloride levels in neurons.
Linfei Mao, Jiayu Lu, Quanjun Yang, Zhenqi Liu, Cuiping Wu, Bingbing Ke, Kaiyan Su, Haolin Yuan, Yaqi Cui, Yao Wang, Richard Salvi, Guang Yang, Shankai Yin, Feng Liu, Chunyan Li   +14 more
wiley   +1 more source

AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells

Advanced Science, EarlyView.
Decreased sensitivity to AAV vector transduction in the outer hair cells (OHCs) of adult mice is primarily attributed to reduction of AAVR (Kiaa0319l; Au040320). Knockout of AAVR reduces AAV vector transduction efficiency in both inner hair cells (IHCs) and OHCs in neonatal mice.
Fan Wu, Guisheng Chen, Rui Hu, Peiwen Liu, Jintao Lou, Wenji Zhao, Zuhong He, Suhua Sha, Yiqing Zheng   +8 more
wiley   +1 more source

Quantifying alternative splicing from paired-end RNA-sequencing data

, 2014
RNA-sequencing has revolutionized biomedical research and, in particular, our ability to study gene alternative splicing. The problem has important implications for human health, as alternative splicing may be involved in malfunctions at the cellular ...
Attolini, Camille Stephan-Otto, Kroiss, Manuel, Rossell, David, Stöcker, Almond   +3 more
core   +1 more source

Single Administration of AAV‐mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2‐Induced Lysosomal Dysfunction in Hair Cells

Advanced Science, EarlyView.
Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei, Shiwei Qiu, Xue Gao, Lu Zheng, Yijin Chen, Ying Ma, Haifeng Feng, Jinyuan Yang, Guojie Dong, Huiyi Nie, Weihao Zhao, Xiaoge Li, Guangqin Wang, Wei Xiong, Pu Dai, Yongyi Yuan   +15 more
wiley   +1 more source

Designer Exons Inform a Biophysical Model for Exon Definition

, 2013
Pre-mRNA molecules in humans contain mostly short internal exons flanked by long introns. To explain the removal of such introns, recognition of the exons instead of recognition of the introns has been proposed. This thesis studies this exon definition mechanism using a bottom-up approach.
openaire   +3 more sources