Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Terry P Maddatu"'
Autor:
Yan Yang, Connie L Mahaffey, Nathalie Bérubé, Terry P Maddatu, Gregory A Cox, Wayne N Frankel
Publikováno v:
PLoS Genetics, Vol 3, Iss 7, p e124 (2007)
Idiopathic epilepsy is a common human disorder with a strong genetic component, usually exhibiting complex inheritance. We describe a new mouse mutation in C57BL/6J mice, called frequent-flyer (Ff), in which disruption of the gene encoding RNA-bindin
Externí odkaz:
https://doaj.org/article/233cb02082834bcf905e348369b35467
Publikováno v:
Nucleic Acids Research
The Mouse Phenome Project was launched a decade ago to complement mouse genome sequencing efforts by promoting new phenotyping initiatives under standardized conditions and collecting the data in a central public database, the Mouse Phenome Database
Autor:
Patsy M. Nishina, Jürgen K. Naggert, Jennifer Hsu, Richard S. Smith, Gregory A. Cox, Shuhei Kameya, Neal S. Peachey, Wanda L. Hicks, Yongsuk Lee, Terry P. Maddatu
Publikováno v:
Molecular and Cellular Neuroscience. 30:160-172
Here we demonstrate previously unreported ocular defects in mice homozygous for a new allele of the Large gene, veils, and for Large myd mice. Clinically, vitreal fibroplasia and retinal vessel tortuosity and fluorescein leakage are observed. These v
Publikováno v:
Human Molecular Genetics. 13:1105-1115
Immunoglobulin mu binding protein 2 (IGHMBP2) is a DNA/RNA helicase with a putative role in transcriptional regulation and splicing. A recessive mutation of the Ighmbp2 gene in neuromuscular degeneration (nmd) mice causes progressive neurogenic atrop
Autor:
Jürgen K. Naggert, David B. West, Terry P. Maddatu, Craig H Warden, Sean J. Barry, Michelle P. Monteiro, Barbara York, Alycia A. Truett
Publikováno v:
Mammalian Genome. 10:457-462
We have previously reported suggestive evidence for a locus on Chromosome (Chr) 7 that affects adiposity in F2 mice from a CAST/Ei × C57BL/6J intercross fed a high-fat diet. Here we characterize the effect of a high-fat (32.6 Kcal% fat) diet on male
Autor:
Jürgen K. Naggert, Terry P. Maddatu, James A. Young, Patsy M. Nishina, Kiyoshi Kano, Christopher Wnek, C. Marín de Evsikova
Publikováno v:
Molecular endocrinology (Baltimore, Md.). 22(8)
Smallie (slie), a spontaneous, autosomal-recessive mutation causes dwarfing and infertility in mice. The purpose of this study was to determine and characterize the underlying molecular genetic basis for its phenotype. The slie locus was mapped to ch
Autor:
Nathalie G. Bérubé, Yan Yang, Terry P. Maddatu, Connie L. Mahaffey, Wayne N. Frankel, Gregory A. Cox
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 3, Iss 7, p e124 (2007)
PLoS Genetics, Vol 3, Iss 7, p e124 (2007)
Idiopathic epilepsy is a common human disorder with a strong genetic component, usually exhibiting complex inheritance. We describe a new mouse mutation in C57BL/6J mice, called frequent-flyer (Ff), in which disruption of the gene encoding RNA-bindin
Autor:
Terry P. Maddatu, Michiru Hirasawa, Jürgen K. Naggert, Robert B. Trask, Akihiro Ikeda, Patsy M. Nishina, Xinjie Xu, Britt A. Johnson
Publikováno v:
Molecular and cellular neurosciences. 35(1)
Carbonic anhydrase related protein 8 (Car8) is known to be abundantly expressed in Purkinje cells (PCs), and its genetic mutation causes a motor coordination defect. To determine the underlying mechanism, we analyzed the mouse cerebellum carrying a C
Autor:
Wiedong Zhang, Terry P. Maddatu, Sean M. Garvey, Soh-Yule Kim, David G. Schroeder, Gregory A. Cox, Crystal Davis, A Nicholson
Publikováno v:
Human molecular genetics. 14(21)
Mutations in the immunoglobulin mu binding protein-2 (Ighmbp2) gene cause motor neuron disease and dilated cardiomyopathy (DCM) in the neuromuscular degeneration (nmd) mouse and spinal muscular atrophy with respiratory distress (SMARD1) in humans. To
Publikováno v:
Physiological genomics. 22(2)
Obesity and Type II diabetes are complex diseases in the human population. The existence of a large number of contributing loci and gene-gene as well as gene-environment interactions make it difficult to identify the disease genes underlying these co