Results 91 to 100 of about 152,200 (329)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Loss of heterozygosity in acute leukemia: evidence of frequent submicroscopic deletions

Haematologica, 2007
Although chromosomal abnormalities are detected by conventional cytogenetic analysis (CCA) in 40–60% of patients with acute myeloid leukemia (AML), cryptic chromosomal deletions may only be detected by molecular analysis. To determine their frequency, we
Cecilia Agueli, Rosaria Basiricò, Francesco Fabbiano, Valentina Rizzo, Lucia Cascio, Giuseppe Cammarata, Anna Marfia, Maria La Rosa, Salvo Mirto, Alessandra Santoro   +9 more
doaj   +1 more source

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

Bioinform., 2011
MOTIVATION The ability to detect copy-number variation (CNV) and loss of heterozygosity (LOH) from exome sequencing data extends the utility of this powerful approach that has mainly been used for point or small insertion/deletion detection. RESULTS We
J. Sathirapongsasuti, Hane Lee, B. Horst, G. Brunner, A. Cochran, S. Binder, John Quackenbush, S. Nelson   +7 more
semanticscholar   +1 more source

High Genetic Diversity and Low Differentiation of Michelia coriacea (Magnoliaceae), a Critically Endangered Endemic in Southeast Yunnan, China [PDF]

, 2012
Michelia coriacea, a critically endangered tree, has a restricted and fragmented distribution in Southeast Yunnan Province, China. The genetic diversity, genetic structure and gene flow in the three extant populations of this species were detected by 10 ...
Archak, Bauert, Belaj, Benor, Budak, Chen, Chiang, Cicuzza, Dan, Dong, Doyle, Evanno, Excoffier, Frankel, Ge, Godt, Hamrick, Ikegami, Kikuchi, Kingston, Lande, Liao, Liu, Loveless, Lu, Luan, Ma, Maguire, Nei, Neigel, Nybom, Peakall, Powell, Pritchard, Qiao, Raymond, Richard Milne, Rossetto, Schaal, Shui, Sun, Sun, Wang, Weibang Sun, Whitlock, Wu, Xiangying Wen, Xingfeng Zhao, Yao, Yeh, Yongpeng Ma, Zawko, Zhang, Zhao, Zhou   +54 more
core   +3 more sources

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Microsatellite instability and loss of heterozygosity at chromosomal location 18q: prospective evaluation of biomarkers for stages II and III colon cancer--a study of CALGB 9581 and 89803.

Journal of Clinical Oncology, 2011
PURPOSE Colorectal cancer (CRC) develops as a result of a series of accumulated genomic changes that produce oncogene activation and tumor suppressor gene loss.
M. Bertagnolli, M. Redston, C. Compton, D. Niedzwiecki, R. Mayer, R. Goldberg, T. Colacchio, L. Saltz, R. Warren   +8 more
semanticscholar   +1 more source

Liver: Intrahepatic cholangiocarcinoma [PDF]

, 2009
Review on Liver: Intrahepatic cholangiocarcinoma, with data on clinics, and the genes ...
Aishima, S, Enjoji, M
core   +1 more source

The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh, Ruchi Tanavade, Nik Krajnc, Fabian Föttinger, Theresa König, Martin Krenn, Lukas Haider, Barbara Kornek, Fritz Leutmezer, Kerstin U. Ludwig, Stefan Macher, Tobias Monschein, Markus Ponleitner, Paulus Rommer, Christiane Schmied, Karin Zebenholzer, Tobias Zrzavy, Gudrun Zulehner, Franziska Di Pauli, Axel Schmidt, Harald Hegen, Berthold Pemp, Thomas Berger   +22 more
wiley   +1 more source