Results 61 to 70 of about 12,984 (193)

Genetic variations and alternative splicing. The Glioma associated oncogene 1, GLI1.

Frontiers in Genetics, 2012
Alternative splicing is a post-transcriptional regulatory process that is attaining stronger recognition as a modulator of gene expression. Alternative splicing occurs when the primary RNA transcript is differentially processed into more than one mature ...
Peter eZaphiropoulos
doaj   +1 more source

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites [PDF]

The American Journal of Human Genetics, 2017
We developed a variant-annotation method that combines sequence-based machine-learning classification with a context-dependent algorithm for selecting splice variants. Our approach is distinctive in that it compares the splice potential of a sequence bearing a variant with the splice potential of the reference sequence.
Melissa, Lee, Patrick, Roos, Neeraj, Sharma, Melis, Atalar, Taylor A, Evans, Matthew J, Pellicore, Emily, Davis, Anh-Thu N, Lam, Susan E, Stanley, Sara E, Khalil, George M, Solomon, Doug, Walker, Karen S, Raraigh, Briana, Vecchio-Pagan, Mary, Armanios, Garry R, Cutting   +15 more
openaire   +2 more sources

Novel compound heterozygous mutations for lipoprotein lipase deficiency: a G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site mutation of intron 8

Journal of Lipid Research, 2001
We systematically investigated the molecular defects causing a primary LPL deficiency in a Japanese male infant (patient DI) with fasting hyperchylomicronemia (type I hyperlipoproteinemia) and in his parents.
Yasuyuki Ikeda, Atsuko Takagi, Yuusei Nakata, Yasuhiko Sera, Sumio Hyoudou, Kazuko Hamamoto, Yoshikazu Nishi, Akira Yamamoto   +7 more
doaj   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. [PDF]

PLoS ONE, 2013
Leber congenital amaurosis (LCA) is the most severe form of retinal dystrophy with an onset in the first year of life. The most frequent genetic cause of LCA, accounting for up to 15% of all LCA cases in Europe and North-America, is a mutation (c.2991 ...
Alejandro Garanto, Sylvia E C van Beersum, Theo A Peters, Ronald Roepman, Frans P M Cremers, Rob W J Collin   +5 more
doaj   +1 more source

Mobilizing Presence across Borders: Devotion to Papua New Guinea's Blessed Peter To Rot in Australia

Oceania, EarlyView.
ABSTRACT This article engages with the conjunctures between migration and religion by focusing on the celebration of Papua New Guinea's ‘National Patron Saint’, the Blessed Peter To Rot, in the Australian diaspora. Both in Sydney and Brisbane, Catholic Papua New Guinea (PNG) migrants have been ‘relocating’ PNG shrines, regalia, relics and ritual ...
Anna‐Karina Hermkens
wiley   +1 more source

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

Molecular Genetics & Genomic Medicine, 2019
Background Pre‐mRNA splicing is a complex process requiring the identification of donor site, acceptor site, and branch point site with an adjacent polypyrimidine tract sequence.
Upendra K. Katneni, Aaron Liss, David Holcomb, Nobuko H. Katagiri, Ryan Hunt, Haim Bar, Amra Ismail, Anton A. Komar, Chava Kimchi‐Sarfaty   +8 more
doaj   +1 more source

Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency

Haematologica, 2008
We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination. Quantitative evaluation of factor V cDNA from homozygous and heterozygous subjects,
Barbara Lunghi, Mirko Pinotti, Iva Maestri, Angelika Batorova, Francesco Bernardi   +4 more
doaj   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source