Ahern, Chris A, Powers, Patricia A, Biddlecome, Gloria H, Roethe, Laura, Vallejo, Paola, Mortenson, Lindsay, ...
Abstract Background The multisubunit (α 1S ,α 2 -δ, β 1a and γ 1 ) skeletal muscle dihydropyridine receptor (DHPR) transduces membrane depolarization into release of Ca 2+ from the sarcoplasmic...
Coffeen, Christin M., McKenna, Catherine E., Koeppen, Arnulf H., Plaster, Nikki M., Maragakis, Nicholas, Mihalopoulos, Jason, ...
The hereditary leukodystrophies represent a group of neurological disorders, in which complete or partial dysmyelination occurs in either the central nervous system (CNS) and/or the peripheral...
A calcium channel mutation causing hypokalemic periodic paralysis (1994)
Jurkat-Rott, Karln, Lehmann-Horn, Frank, Elbaz, Alexis, Heine, Roland, Gregg, Ronald G., Hogan, Kirk, ...
The only calcium channel mutation reported to date is a deletion in the gene for the DHP-receptor α1-subunit resulting in neonatal death in muscular dysgenesis mice (1). In humans, this gene maps to...
G to A polymorphism in the CACNLG gene (1993)
Dickers, Antonel, Jedlicka, Anne E., Powers, Patricia A., Hogan, Kirk, Gregg, Ronald G., Levitt, Roy C.
Ahern, Chris A, Powers, Patricia A, Biddlecome, Gloria H, Roethe, Laura, Vallejo, Paola, Mortenson, Lindsay, ...
Gregg, Ronald G., Willer, Gregory B., Fadool, James M., Dowling, John E., Link, Brian A.
Zebrafish with the young (yng) mutation show a defect in retinal cell differentiation. Here we demonstrate that a mutation in a brahma-related gene (brg1) is responsible for the yng phenotype. Brahma...
Anesthetic Requirement is Increased in Redheads
Liem, Edwin B., Lin, Chun–Ming, Suleman, Mohammad–Irfan, Doufas, Anthony G., Gregg, Ronald G., Veauthier, Jacqueline M., ...
Background: Age and body temperature alter inhalational anesthetic requirement; however, no human genotype is associated with inhalational anesthetic requirement. There is an anecdotal impression...
Genetic heterogeneity in families with hereditary multiple exostoses
Cook, April, Raskind, Wendy, Blanton, Susan Halloran, Pauli, Richard M., Gregg, Ronald G., Francomano, Claire A., ...
We have carried out a linkage analysis on 11 families segregating gene(s) for hereditary multiple exostoses (EXT). Four highly informative, short tandem-repeat (STR) markers that have been physically...
Ahern, Chris A, Powers, Patricia A, Biddlecome, Gloria H, Roethe, Laura, Vallejo, Paola, Mortenson, Lindsay, ...
Gregg, Ronald G., Willer, Gregory B., Fadool, James M., Dowling, John E., Link, Brian A.
Zebrafish with the young (yng) mutation show a defect in retinal cell differentiation. Here we demonstrate that a mutation in a brahma-related gene (brg1) is responsible for the yng phenotype. Brahma...
Genetic heterogeneity in families with hereditary multiple exostoses
Cook, April, Raskind, Wendy, Blanton, Susan Halloran, Pauli, Richard M., Gregg, Ronald G., Francomano, Claire A., ...
We have carried out a linkage analysis on 11 families segregating gene(s) for hereditary multiple exostoses (EXT). Four highly informative, short tandem-repeat (STR) markers that have been physically...
Marmorstein, Lihua Y., Wu, Jiang, McLaughlin, Precious, Yocom, John, Karl, Mike O., Neussert, Rudgar, ...
Mutations in VMD2, encoding bestrophin (best-1), cause Best vitelliform macular dystrophy (BMD), adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy...
Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11
Marshall, Christian R., Young, Edwin J., Pani, Ariel M., Freckmann, Mary-Louise, Lacassie, Yves, Howald, Cédric, ...
Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of...
Comparisons of structural and functional abnormalities in mouse b-wave mutants
McCall, Maureen A, Gregg, Ronald G
In the most simplistic view, the retinal circuit can be divided into vertical excitatory pathways that use glutamate as their neurotransmitter and lateral inhibitory pathways in the outer and inner...
Maddox, Dennis M, Vessey, Kirstan A, Yarbrough, Gary L, Invergo, Brandon M, Cantrell, Donald R, Inayat, Samsoon, ...
An electroretinogram (ERG) screen identified a mouse with a normal a-wave but lacking a b-wave, and as such it was designated no b-wave3 (nob3). The nob3 phenotype mapped to chromosome 11 in a region...