Results 301 to 310 of about 736,700 (337)

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

Mutations induced at the white and vermilion loci in Drosophila melanogaster

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1990
The white and vermilion loci in D. melanogaster were selected as target genes for the study of the mutational specificity of ionizing radiation and N-ethyl-N-nitrosourea (ENU) in a whole organism. Analysis of X-ray- and neutron-induced white mutants by a combination of genetic and molecular techniques showed that ionizing radiation induces primarily ...
A, Pastink, C, Vreeken, E W, Vogel, J C, Eeken   +3 more
openaire   +2 more sources

EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy

Nature Medicine, 2005
Vanishing white matter disease (VWM) is a heritable leukodystrophy linked to mutations in translation initiation factor 2B (eIF2B). Although the clinical course of this disease has been relatively well described, the cellular consequences of EIF2B mutations on neural cells are unknown.
Jörg, Dietrich, Michelle, Lacagnina, David, Gass, Eric, Richfield, Margot, Mayer-Pröschel, Mark, Noble, Carlos, Torres, Christoph, Pröschel   +7 more
openaire   +2 more sources

Constitutional mutation of keratin 13 gene in familial white sponge nevus

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 2003
We sought to investigate a novel mutation in the keratin genes assumed to be responsible for a familial case of oral white sponge nevus.The affected family consisted of a 36-year-old woman, her 17-year-old daughter, and her 14-year-old son. Keratin 4 and 13 genes extracted from venous blood lymphocytes were amplified by using the polymerase chain ...
Yasuyuki, Shibuya, Jianming, Zhang, Satoshi, Yokoo, Masahiro, Umeda, Takahide, Komori   +4 more
openaire   +2 more sources

Autosomal Recessive White-eyed Mutation in Muscina stabulans (Fall.)

Nature, 1962
PATERSON1 has described a sex-linked and sex-limited white-eyed mutant in Muscina stabulans (Fall.). This communication reports a white-eyed mutation in the same species which involves a different mode of inheritance.
openaire   +1 more source

Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia)

Parkinsonism & Related Disorders, 2018
Recently, mutations in the collagen gene COL6A3 have been reported in patients with autosomal-recessive, isolated dystonia (DYT27). Zebrafish models of COL6A3 mutations showed deficits in axonal targeting mechanisms. Therefore, COL6A3 mutations have been considered to contribute to irregular sensorimotor circuit formation.
Angela Jochim, Yong Li, Michael Zech, Daniel Lam, Nadine Gross, Kathrin Koch, Claus Zimmer, Juliane Winkelmann, Bernhard Haslinger   +8 more
openaire   +3 more sources

Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses

American Journal of Veterinary Research, 2001
Abstract Objective—To determine incidence of the Ile118Lys endothelin receptor B (EDNRB) mutation responsible for overo lethal white syndrome (OLWS) and its association with specific types of white patterning. Animals—945 horses of white-patterned bloodlines and 55 solid-colored horses of other breeds.
E M, Santschi, P D, Vrotsos, A K, Purdy, J R, Mickelson   +3 more
openaire   +2 more sources

Breast Cancer Statistics, 2022

Ca-A Cancer Journal for Clinicians, 2022
Hyuna Sung, Kimberly D Miller, Rebecca L Siegel   +2 more
exaly  

Brain and other central nervous system tumor statistics, 2021

Ca-A Cancer Journal for Clinicians, 2021
Kimberly D Miller, Quinn T Ostrom, Carol Kruchko Ba   +2 more
exaly  

Micromelia—A Lethal Mutation in White Pekin Ducks

Journal of Heredity, 1966
openaire   +2 more sources