Results 151 to 160 of about 199,160 (290)

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

Movement Disorders, EarlyView.
Abstract Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders. Objectives The goal was to
Keit Men Wong, Reza Maroofian, Kolja Meier, Susann Diegmann, Tinatin Tkemaladze, Javeria Raza Alvi, Behnoosh Tasharrofi, Stephanie Efthymiou, Alexander Munchau, G. Christoph Korenke, Naif Almontashiri, Wafaa Eyaid, Amna Kashgari, Modhi Alotaibi, Jutta Gärtner, Brenda Huppke, Mostafa Asadollahi, Gocha Chikvinidze, Mohammad Keramatipour, Tipu Sultan, Holger Thiele, Peter Nürnberg, Markus H. Gräler, Henry Houlden, Peter Huppke   +24 more
wiley   +1 more source

Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

Molecular Medicine, 2018
Premature termination codons (PTCs) in the coding regions of mRNA lead to the incorrect termination of translation and generation of non-functional, truncated proteins.
Maciej Dabrowski, Zuzanna Bukowy-Bieryllo, Ewa Zietkiewicz   +2 more
doaj   +1 more source

Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction SMARCA4 is a known susceptibility gene for malignant rhabdoid tumors (MRT) in children and small cell carcinoma of the ovary hypercalcemic type (SCCOHT) in young females and women. Recently, a novel association between germline SMARCA4 variants and predisposition to neuroblastoma was proposed.
Nienke van Engelen, Ronald. R. de Krijger, Michelle M. Kleisman, Lennart. A. Kester, Saskia M. J. Hopman, Mariette E. G. Kranendonk, Marijn A. Vermeulen, Carli Tops, Seok‐Young Kim, Hans Clevers, Kornelia Neveling, Roland. P. Kuiper, Marjolijn C. J. Jongmans   +12 more
wiley   +1 more source

A new case of apoA-I deficiency showing codon 8 nonsense mutation of the apoA-I gene without evidence of coronary heart disease.

Arteriosclerosis, Thrombosis and Vascular Biology, 1995
We report a 39-year-old Japanese man with HDL and apoA-I deficiency as well as data from members of his family. Corneal opacity and a stomatocyte were found but not tonsillar hypertrophy, xanthomas, or splenomegaly.
Kouki Takata, Keijiro Saku, Takao Ohta, Mie Takata, Huai Bai, S. Jimi, R. Liu, Hikaru Sato, G. Kajiyama, Kikuo Arakawa   +9 more
semanticscholar   +1 more source

Codon 201Gly Polymorphic Type of the DCC Gene is Related to Disseminated Neuroblastoma

Neoplasia: An International Journal for Oncology Research, 2001
The deleted in colorectal carcinoma (DCC) gene is a potential tumor- suppressor gene on chromosome 18821.3. The relatively high frequency of loss of heterozygosity (LOH) and loss of expression of this gene in neuroblastoma, especially in the advanced ...
Xiao-Tang Kong, Seung Hoon Choi, Fumio Bessho, Miyuki Kobayashi, Ryoji Hanada, Keiko Yamamoto, Yasuhide Hayashi   +6 more
doaj   +1 more source

Nonsense suppression therapies in human genetic diseases

Cellular and Molecular Life Sciences, 2021
Patrícia Martins-Dias, L. Romão
semanticscholar   +1 more source

Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein.

Journal of Investigative Dermatology, 1997
The severe mutilating Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa (HS-RDEB) is characterized by the absence of anchoring fibrils that consist of type VII collagen.
A. Christiano, Satoshi Amano, L. Eichenfield, R. Burgeson, Jouni Uitto   +4 more
semanticscholar   +1 more source

Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing

Molecular Therapy: Methods & Clinical Development, 2020
Nonsense-mediated decay (NMD) is a major pathogenic mechanism underlying a diversity of genetic disorders. Nonsense variants tend to lead to more severe disease phenotypes and are often difficult targets for small molecule therapeutic development as a ...
Steven Erwood, Onofrio Laselva, Teija M.I. Bily, Reid A. Brewer, Alexandra H. Rutherford, Christine E. Bear, Evgueni A. Ivakine   +6 more
doaj  

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. [PDF]

, 2017
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis ...
Atanasova, Velina S., Bruckner-Tuderman, Leena, Chen, Mei, Gruber, Christina, Has, Cristina, Hofbauer, Josefina Piñón, Jiang, Qiujie, McGrath, John A., Prisco, Marco, South, Andrew P., Uitto, Jouni   +10 more
core   +1 more source

An epigenomic threshold hypothesis for integrating dynamic environmental signals into functional models of developmental polyphenisms

Functional Ecology, EarlyView.
Read the free Plain Language Summary for this article on the Journal blog. Abstract Interactions between developing embryos and a multitude of environmental factors (e.g. climate, nutrition, social cues, stress and anthropogenic contaminants) underlie adaptive and non‐adaptive developmental plasticity and carry broad implications across ecological ...
Benjamin B. Parrott, Samantha L. Bock
wiley   +1 more source