Results 301 to 310 of about 731,846 (342)

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.
A, Pastink, A P, Schalet, C, Vreeken, E, Parádi, J C, Eeken   +4 more
openaire   +2 more sources

Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis

The Indian Journal of Pediatrics, 2014
Pycnodysostosis (OMIM # 265800) is an inherited lysosomal disorder due to affection of cathepsin K gene, localised to 1q21. Pycnodysostosis can present with both skeletal and extraskeletal features. The index patient presented with cardinal features of short stature, dental and digital anomalies with history of multiple fractures.
Ankur, Singh, Sergio, Cuevas-Covarrubias, Gaurav, Pradhan, V K, Gautam, Olga, Messina-Baas, Luz Maria, Gonzalez-Huerta, Manisha, Goyal, Seema, Kapoor   +7 more
openaire   +2 more sources

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

Neuromuscular Disorders, 2009
Hereditary spastic paraplegias (HSPs) are relatively frequent disorders presenting great genetic heterogeneity. The recent identification of mutations in SPG5/CYP7B1 in six autosomal recessive kindred linked to the SPG5 locus on chromosome 8q prompted us to test the relative frequency of SPG5/CYP7B1 variants in 12 families and in sporadic HSP patients ...
BIANCHERI R, CICCOLELLA M, ROSSI A, TESSA A, CASSANDRINI D, MINETTI, CARLO, SANTORELLI FM   +6 more
openaire   +3 more sources

White and grey matter abnormalities in patients withSPG11mutations

Journal of Neurology, Neurosurgery & Psychiatry, 2012
Mutations in SPG11 are the most frequent known cause of autosomal recessive hereditary spastic paraplegia. Corpus callosum thinning is a hallmark of the condition but little is known about damage to other structures in the CNS.To evaluate in vivo cerebral damage in patients with SPG11 mutations.5 patients and 15 age and sex matched healthy controls ...
Marcondes C, França, Clarissa L, Yasuda, Fabrício R S, Pereira, Anelyssa, D'Abreu, Camila M, Lopes-Ramos, Madalena V, Rosa, Fernando, Cendes, Iscia, Lopes-Cendes   +7 more
openaire   +2 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.
M, Lucas, R, Suarez, A, Marcos, F, Solano, A, Venegas, M I, Garcia-Sanchez, L, Ortiz, G, Izquierdo   +7 more
openaire   +2 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 A, Stephenson, K H, Lee, D L, Nagle, C H, Yen, A, Morrow, D, Miller, V M, Chapman, M, Bućan   +7 more
openaire   +2 more sources

The spectrum of mutations for the diagnosis of vanishing white matter disease

Neurological Sciences, 2006
Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation ...
SCALI O., DI PERRI C., FEDERICO A.
openaire   +4 more sources

The influence of Vanishing White Matter mutations on oligodendrocyte differentiation

Tijdschrift voor Kindergeneeskunde, 2013
s ingediend voor het Amsterdam Kindersymposium 2013 35 The influence of Vanishing White Matter mutations on oligodendrocyte differentiation S. Dooves (1,2), J.A. van der Kreeke (1,2), P. Leferink (1,2), J.G. Jacobs (1,2), M.S. van der Knaap (1), V.M.
S. Dooves, J.A. van der Kreeke, P. Leferink, J.G. Jacobs, M.S. van der Knaap, V.M. Heine   +5 more
openaire   +1 more source

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   +2 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   +2 more sources