Results 61 to 70 of about 3,322,892 (202)

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. [PDF]

PLoS ONE, 2012
BACKGROUND: Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the
Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong   +3 more
doaj   +1 more source

Mutation testing on an object-oriented framework: An experience report [PDF]

, 2011
This is the preprint version of the article - Copyright @ 2011 ElsevierContext The increasing presence of Object-Oriented (OO) programs in industrial systems is progressively drawing the attention of mutation researchers toward this paradigm.
Sergio Segura, Segura, S, Benavides, D, Antonio Ruiz-Cortés, Ruiz Cortés, Antonio, Segura Rueda, Sergio, Robert M. Hierons, Benavides Cuevas, David Felipe, Hierons, Robert M., David Benavides, Hierons, RM, Ruiz-Cortes, A   +11 more
core   +1 more source

Loss of AMBRA1 activates MAPK and angiogenesis signaling pathways in melanoma cells

FEBS Open Bio, EarlyView.
Loss of AMBRA1 in melanoma cells activates multiple oncogenic pathways associated with tumor progression. Transcriptomic and protein network analyses revealed that AMBRA1 depletion enhances MAPK/ERK signaling, angiogenesis, TGF‐β/EMT signaling, and Wnt/axon guidance pathways.
Milad Ibrahim, Marco Corazzari, Iman Osman, Jane Armstrong, Noel Carter   +4 more
wiley   +1 more source

A novel \(\it ECM1\) splice site mutation in lipoid proteinosis

, 2016
Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in \(\it ECM1\). Nonsense and missense mutations are the most common variations in LP. Up to date, only 6 splice site mutations have been observed. We report
Möllenhoff, Katrin, Epplen, Jörg T. (Prof. Dr. med.), Kohlhase, Jürgen (Prof. Dr. med.), Rey, Linda Kristin, Hoffjan, Sabine (PD Dr. med.), Dekomien, Gabriele   +5 more
core   +1 more source

A splice-site mutation causing ovine McArdle's disease

, 1997
McArdle's disease is an autosomal recessive myopathy with symptoms of exercise intolerance caused by deficiency of the enzyme muscle glycogen phosphorylase which releases glucose for contraction during exercise.
P.A Akkari, Laing, N.G., C.R Huxtable, Allen, J.G., S.D Wilton, Akkari, P.A., Huxtable, C.R., P Tan, N.G Laing, Tan, P., J.G Allen, Wilton, S.D.   +11 more
core   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc [PDF]

, 2008
Context: Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues. Although progesterone production from the fetally-derived placenta is necessary to maintain pregnancy to term, four patients with mutations in ...
Huang, NW, Achermann, JC, Lin, L, Kim, CJ, Miller, WL, Quigley, CA, AvRuskin, TW   +6 more
core  

Factor VII gene intronic mutation in a lethal factor VII deficiency: effects on splice-site selection

, 2003
International audienceAbstract In a patient with lethal factor VII (FVII) deficiency, 2 homozygous nucleotide substitutions were identified in the F7 gene: a IVS7+2T>G transversion involving the IVS7 donor splice site, followed by a mutation at ...
Borensztajn, Keren, Sobrier, Marie-Laure, Chafa, Ouerdia, Tapon-Bretaudiére, Jacqueline, Fischer, Anne-Marie, Amselem, Serge   +5 more
core   +1 more source

Using cell‐free RNA to identify B‐ and T‐cell clonality for diagnosis and monitoring of B‐ and T‐cell neoplasms

FEBS Open Bio, EarlyView.
Using peripheral blood for determining B‐cell or T‐cell clonality is more reliable when we use cell‐free RNA (cfRNA) because cells release blood significantly more RNA than DNA. Next‐generation sequencing (NGS) of cfRNA allows us to evaluate fragment cfRNA and evaluate clonality reliably without the need for prior determination of the specific dominant
Adam Albitar, Sally Agersborg, Ahmed Charifa, Pooja Phull, Noa Biran, David Vesole, Harsh Parmar, Andrew Pecora, Andrew Ip, Andre Goy, David Siegel, Maher Albitar   +11 more
wiley   +1 more source

Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3’ splice sites

RNA Biology
SF3B1 is a core component of the spliceosome involved in branch point recognition and 3’ splice site selection. The SF3B1 K700E mutation (lysine to glutamic acid) is common in myelodysplastic syndrome and other blood disorders.
Austin Herbert, Abigail Hatfield, Alexandra Randazza, Valeria Miyamoto, Katie Palmer, Lela Lackey   +5 more
doaj   +1 more source