Results 81 to 90 of about 260,440 (253)

Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum, 2013
Background and Objectives: Friedreich’s ataxia (FRDA) is an autosomal recessive disorder that is typically associated with dysarthria, muscle weakness, spasticity in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of
Naseroleslami M, Parivar K., Sanjarian S, Khalili E, Aryani O, Akhavan Sepahi M, Houshmand M   +6 more
doaj  

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

BMC Medical Genetics, 2007
Background Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD reading frame is restored and ...
van Ommen Gert-Jan B, Janson Anneke AM, Aartsma-Rus Annemieke, van Deutekom Judith CT   +3 more
doaj   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Assessing the number of ancestral alternatively spliced exons in the human genome

BMC Genomics, 2006
Background It is estimated that between 35% and 74% of all human genes undergo alternative splicing. However, as a gene that undergoes alternative splicing can have between one and dozens of alternative exons, the number of alternatively spliced genes by
Sorek Rotem, Dror Gideon, Shamir Ron
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Longer internal exons tend to have more tandem repeats and more frequently experience insertions and deletions

Life Science Alliance
We found that insertions and deletions occur more frequently in longer internal exons and mostly encode structure-less regions, and that half of them are attributable to alterations in tandem repeats.
Keiichi Homma, Hiroto Anbo, Motonori Ota, Satoshi Fukuchi   +3 more
doaj   +1 more source

End‐to‐End Sensing Systems for Breast Cancer: From Wearables for Early Detection to Lab‐Based Diagnosis Chips

Advanced Materials Technologies, EarlyView.
This review explores advances in wearable and lab‐on‐chip technologies for breast cancer detection. Covering tactile, thermal, ultrasound, microwave, electrical impedance tomography, electrochemical, microelectromechanical, and optical systems, it highlights innovations in flexible electronics, nanomaterials, and machine learning.
Neshika Wijewardhane, Lyn I. Jones, Richard M. Martin, Helen Winter, Faezeh Arab Hassani   +4 more
wiley   +1 more source

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction

Molecular Medicine
Background Biallelic pathogenic variants in the GALNS gene lead to Mucopolysaccharidosis Type IVA (MPS IVA), a rare lysosomal storage disorder.
Igor Bychkov, Elza Shchukina, Ekaterina Zakharova   +2 more
doaj   +1 more source

CDK4/6 Inhibition Induces CD8+ T Cell Antitumor Immunity via MIF‐Induced Functional Orchestration of Tumor‐Associated Macrophages

Advanced Science, EarlyView.
CDK4/6 inhibition promotes CD8+ T cell expansion through tumor‐macrophage crosstalk by activating HIF‐1α and enhancing MIF‐CD44/CD74 signaling. This reprograms TAMs to boost MHC‐I antigen presentation, and CDK4/6 inhibitor‐trained M1 TAM supernatant therapy synergizes with low‐dose PD‐1 blockade to restore antitumor immunity.
Lin He, Yuzhong Peng, Lat‐lun Leong, Jingbo Zhou, Dongyang Tang, Weilu Wang, Xiaoran Wu, Josh haipeng Lei, Yongqin Ye, Yangyang Feng, Yunfeng Qiao, Xiangpeng Chu, Di Mu, Qi Zhao, Tzuming Liu, Yan Chen, Paul Kwonghang Tam, Chu‐Xia Deng   +17 more
wiley   +1 more source