Results 311 to 320 of about 694,722 (327)

The nature of radiation-induced mutations at the white locus of Drosophila melanogaster

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 1987
X-Ray- and neutron-induced mutations at the white locus of Drosophila melanogaster were used to study the nature of radiation-induced genetic damage. Genetic analysis showed the presence of multi-locus deficiencies in 15 out of 31 X-ray mutants and in 26 out of 35 mutants induced by neutrons.
C. Vreeken, C. Vreeken, J.C.J. Eeken, J.C.J. Eeken, E. Parádi, Albert Pastink, Albert Pastink, A.P. Schalet, A.P. Schalet   +8 more
openaire   +3 more sources

Arg113His mutation of vanishing white matter is not present in multiple sclerosis

Multiple Sclerosis Journal, 2007
Vanishing white matter (VWM) is a childhood leukoencephalopathy with central hypomyelination, white matter rarefaction, and cystic degeneration. Adult onset, variable phenotype, and high frequency characterize Arg113His mutation caused by G338A polymorphism associated with VWM.
Guillermo Izquierdo, Maria Isabel García-Sánchez, Francisca Solano, Ana Venegas, Lucia Ortiz, Miguel Lucas, Ana Marcos, Rocio Suárez   +7 more
openaire   +3 more sources

Mouse rump-white mutation associated with an inversion of Chromosome 5

Mammalian Genome, 1994
The rump-white (Rw) mutation in the mouse was previously mapped as part of a cluster of spotting genes on Chromosome (Chr) 5 that includes the dominant spotting (W) and patch (Ph) loci. Recent studies have shown that the W locus encodes the KIT tyrosine kinase cell surface receptor and that Ph is a deletional mutation encompassing the platelet-derived ...
D. Miller, K.-H. Lee, Deborah L. Nagle, Verne M. Chapman, A. Morrow, C.-H. Yen, Maja Bucan, Dennis A. Stephenson   +7 more
openaire   +3 more sources

The Anopheles albimanus white gene: molecular characterization of the gene and a spontaneous white gene mutation.

Genetica, 1997
We have cloned and characterized the white gene of Anopheles albimanus. Comparison of the deduced amino acid sequence of this white gene with its homologs from six species of Diptera show that the An. albimanus gene is most similar to the white gene of An. gambiae (92% identity). A spontaneous white-eyed mutant An.
Anthony J. Cornel, Anthony J. Cornel, Frank H. Collins, Frank H. Collins, Mark Q. Benedict, N. J. Besansky, N. J. Besansky, Zhaoxi Ke, Zhaoxi Ke, Zhaoxi Ke   +9 more
openaire   +3 more sources

White matter abnormalities in Parkinson's disease patients with glucocerebrosidase gene mutations

Movement Disorders, 2013
ABSTRACTGlucocerebrosidase gene mutations represent a genetic risk factor for the development of Parkinson's disease. This study investigated brain alterations in Parkinson's disease patients carrying heterozygous glucocerebrosidase gene mutations using structural and diffusion tensor magnetic resonance imaging.
Agosta F, Kostic VS, Davidovic K, Kresojević N, Sarro L, Svetel M, Stanković I, Comi G, Klein C, Filippi M   +9 more
openaire   +3 more sources

Two variants in theKITgene as candidate causative mutations for a dominant white and a white spotting phenotype in the donkey

Animal Genetics, 2015
White spotting phenotypes have been intensively studied in horses, and although similar phenotypes occur in the donkey, little is known about the molecular genetics underlying these patterns in donkeys. White spotting in donkeys can range from only a few white areas to almost complete depigmentation and is characterised by a loss of pigmentation ...
B. Haase, S. Rieder, T. Leeb
openaire   +3 more sources

Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation

Neurology, 2010
The association between protein S deficiency (PSD) and ischemic stroke is controversial and warrants further investigation.We conducted a genotype and MRI correlation study in a Chinese family in which hereditary PSD cosegregated with premature ischemic strokes.
Lam, CW, Wong, KS, Yip, SF, Leung, TW, Liu, HSY, Chan, NPH, Chan, LC, Fan, YH, Siu, DYW, Lam, WWM, Chan, TL   +10 more
openaire   +5 more sources

Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation

Neurology, 2006
The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine.
FEDERICO, ANTONIO, SCALI O, STROMILLO ML, DI PERRI C, BIANCHI S, SICURELLI F, DE STEFANO, NICOLA, MALANDRINI, ALESSANDRO, DOTTI, MARIA   +8 more
openaire   +4 more sources

White matter hyperintensities characterize monogenic frontotemporal dementia with granulin mutations

Neurobiology of Aging, 2016
No study but one has suggested the presence of white matter hyperintensities (WMHs) in frontotemporal dementia (FTD), limited to 4 cases carrying pathogenic Granulin (GRN) gene mutations. We investigated the presence of WMHs in a cohort of 14 FTD patients with pathogenic GRN mutations (GRN+), 28 patients without GRN mutations (GRN-) and 18 healthy ...
Paternicò, D, Premi, E, Gazzina, S, Cosseddu, M, Alberici, A, Archetti, S, Cotelli, Ms, Micheli, A, Turla, M, GASPAROTTI, Roberto, PADOVANI, Alessandro, BORRONI, Barbara   +11 more
openaire   +4 more sources

A RED-TO-WHITE MUTATION IN MAIZE [PDF]

Journal of Heredity, 1929
openaire   +1 more source