Lista de obras - Ronald Gregg - Dominio Público Uruguay

A calcium channel mutation causing hypokalemic periodic paralysis

artículo científico publicado en 1994

A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia

artículo científico publicado el 1 de septiembre de 1992

A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites

artículo científico publicado en 2011

A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells.

artículo científico publicado en 2009

Absence of voltage-dependent calcium channels delays photoreceptor degeneration in rd mice

artículo científico publicado en 2002

Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses

artículo científico publicado en 2008

Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome

artículo científico publicado en 2010

Analysis of the Zebrafish perplexed mutation reveals tissue-specific roles for de novo pyrimidine synthesis during development

artículo científico publicado en 2005

Anesthetic requirement is increased in redheads

artículo científico publicado en 2004

Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols ⬇️

artículo científico publicado el 1 de marzo de 1993

Assignment of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CCHL1A1) to chromosome 12p12-pter

artículo científico publicado en 1991

Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32

artículo científico publicado en 1993

Autoantibodies in melanoma-associated retinopathy target TRPM1 cation channels of retinal ON bipolar cells

artículo científico publicado en 2011

CACNA1S expression in mouse retina: Novel isoforms and antibody cross-reactivity with GPR179.

artículo científico publicado en 2016

Ca2+ sparks in embryonic mouse skeletal muscle selectively deficient in dihydropyridine receptor alpha1S or beta1a subunits

artículo científico publicado en 1999

Cardiac troponin I gene knockout: a mouse model of myocardial troponin I deficiency

scientific journal article

Cholesterol synthesis and HMG CoA reductase activity during hepatocarcinogenesis in rats

scientific article published on 01 January 1986

Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)

artículo científico publicado en 1994

Comparisons of structural and functional abnormalities in mouse b-wave mutants.

artículo científico publicado en 2008

Dinucleotide repeat polymorphism at the D10S178 locus ⬇️

artículo científico publicado el 25 de marzo de 1992

Dinucleotide repeat polymorphism at the D10S179 locus.

artículo científico publicado en 1992

Dinucleotide repeat polymorphism at the D7S547 locus

artículo científico publicado en 1992

Distribution of voltage gated calcium channel β subunits in the mouse retina

artículo científico publicado en 2011

Effect of assay temperature on the kinetics of 3-hydroxy-3-methylglutaryl-coenzyme A reductase in rat liver and Morris hepatoma 5123C.

artículo científico publicado en 1985

Efficient transformation and frequent single-site, single-copy insertion of DNA can be obtained in mouse erythroleukemia cells transformed by electroporation.

artículo científico publicado en 1986

Elimination of the rho1 subunit abolishes GABA(C) receptor expression and alters visual processing in the mouse retina

scientific journal article

Evolutionary shifts in courtship pheromone composition revealed by EST analysis of plethodontid salamander mental glands

artículo científico publicado en 2008

Expression of genes inserted at the human beta-globin locus by homologous recombination

artículo científico publicado en 1987

Failure to maintain eye-specific segregation in nob, a mutant with abnormally patterned retinal activity

artículo científico publicado en 2006

G to A polymorphism in the CACNLG gene

artículo científico publicado en 1993

GPR158/179 regulate G protein signaling by controlling localization and activity of the RGS7 complexes

artículo científico publicado en 2012

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

GPR179 is required for high sensitivity of the mGluR6 signaling cascade in depolarizing bipolar cells.

scientific article published on April 2014

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region

artículo científico publicado en 2003

Genetic heterogeneity in families with hereditary multiple exostoses

artículo científico publicado en 1993

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31

artículo científico publicado en 2000

Genetic variations associated with red hair color and fear of dental pain, anxiety regarding dental care and avoidance of dental care

artículo científico publicado en 2009

Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome

artículo científico publicado en 2010

Hepatic cholesterol synthesis and hydroxymethylglutaryl CoA reductase activity after injection of methylazoxymethanol acetate

scientific article published on 01 September 1987

Immunohistochemical analysis of the outer plexiform layer in the nob mouse shows no abnormalities

artículo científico publicado en 2003

In vivo development of retinal ON-bipolar cell axonal terminals visualized in nyx::MYFP transgenic zebrafish

artículo científico publicado en 2006

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

artículo científico publicado en 2008

Insertion of DNA sequences into the human chromosomal beta-globin locus by homologous recombination

artículo científico publicado en 1985

Intermolecular Interaction between Anchoring Subunits Specify Subcellular Targeting and Function of RGS Proteins in Retina ON-Bipolar Neurons

artículo científico publicado en 2016

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome

artículo científico publicado en 2010

Involvement of the carboxy-terminus region of the dihydropyridine receptor beta1a subunit in excitation-contraction coupling of skeletal muscle

artículo científico publicado en 1999

LRIT3 is Required for Nyctalopin Expression and Normal ON and OFF Pathway Signaling in the Retina

scientific article published on 01 January 2020

Lineage-specific differences in evolutionary mode in a salamander courtship pheromone.

artículo científico publicado en 2005

Linkage mapping of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CACNL1A1) to chromosome 12p13.2-pter using a dinucleotide repeat

artículo científico publicado en 1992

Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24.

artículo científico publicado en 1996

Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome

scientific article published on 01 October 1999

Loss of Lrp2 in zebrafish disrupts pronephric tubular clearance but not forebrain development.

artículo científico publicado en 2011

Malignant hyperthermia, congenital anomalies, and DNA linkage analysis

artículo científico publicado en 1988

Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).

artículo científico publicado en 2009

Modulation of L-type Ca2+ current but not activation of Ca2+ release by the gamma1 subunit of the dihydropyridine receptor of skeletal muscle

artículo científico publicado en 2001

Molecular Origin of the L-Type Ca2+ Current of Skeletal Muscle Myotubes Selectively Deficient in Dihydropyridine Receptor β1a Subunit ⬇️

artículo científico publicado el 1 de julio de 1998

Molecular characterization and expression patterns of a B-type nuclear lamin during sea urchin embryogenesis

artículo científico publicado en 1995

Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location

artículo científico publicado en 1993

Molecular cloning and analysis of Ca2+/calmodulin-dependent protein kinase II from the chicken brain

artículo científico publicado en 1998

Morphological and Physiological Consequences of the Selective Elimination of Rod Photoreceptors in Transgenic Mice

artículo científico publicado en 1996

Muscle contractions guide rohon-beard peripheral sensory axons

artículo científico publicado en 2009

Mutation screening of dihydropyridine receptor gamma subunit cDNA from malignant hyperthermia susceptible patients

artículo científico publicado en 1995

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

artículo científico publicado en 2009

Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish

artículo científico publicado en 2006

Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma

artículo científico publicado en 2011

Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation

artículo científico publicado en 2010

Neuromuscular synaptic patterning requires the function of skeletal muscle dihydropyridine receptors.

artículo científico publicado en 2011

Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods

artículo científico publicado en 1997

Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness

artículo científico publicado en 2007

Phosphatidylinositol synthase is required for lens structural integrity and photoreceptor cell survival in the zebrafish eye.

artículo científico publicado en 2011

Plethodontid modulating factor, a hypervariable salamander courtship pheromone in the three-finger protein superfamily

artículo científico publicado en 2007

Positional cloning of the young mutation identifies an essential role for the Brahma chromatin remodeling complex in mediating retinal cell differentiation ⬇️

artículo científico publicado el 14 de mayo de 2003

Presence of the Gpr179(nob5) allele in a C3H-derived transgenic mouse

artículo científico publicado en 2013

Presynaptic Expression of LRIT3 Transsynaptically Organizes the Postsynaptic Glutamate Signaling Complex Containing TRPM1

artículo científico publicado en 2019

Proteomic and UTR analyses of a rapidly evolving hypervariable family of vertebrate pheromones

artículo científico publicado en 2012

Recovery of Ca2+ current, charge movements, and Ca2+ transients in myotubes deficient in dihydropyridine receptor beta 1 subunit transfected with beta 1 cDNA ⬇️

artículo científico publicado el 1 de agosto de 1997

Regulated expression of genes inserted at the human chromosomal beta-globin locus by homologous recombination ⬇️

artículo científico publicado el 1 de junio de 1988

Regulatory elements in the introns of the human HPRT gene are necessary for its expression in embryonic stem cells

artículo científico publicado en 1990

Reversible phosphorylation of 3-hydroxy-3-methylglutaryl CoA reductase in Morris hepatomas

artículo científico publicado en 1983

Role of the beta(2) subunit of voltage-dependent calcium channels in the retinal outer plexiform layer

scientific journal article

Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene

artículo científico publicado en 1992

Targeted modification of human chromosomal genes

scientific article published on 01 January 1986

Targetted correction of a mutant HPRT gene in mouse embryonic stem cells

artículo científico publicado en 1987

The Ca2+ channel subunit beta2 regulates Ca2+ channel abundance and function in inner hair cells and is required for hearing

artículo científico publicado en 2009

The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)

scientific journal article

The loss of vacuolar protein sorting 11 (vps11) causes retinal pathogenesis in a vertebrate model of syndromic albinism.

artículo científico publicado en 2011

The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses

artículo científico publicado en 2006

The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)

artículo científico publicado en 1996

Topological analysis of small leucine-rich repeat proteoglycan nyctalopin

artículo científico publicado en 2012

Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model

artículo científico publicado en 2013

Using mutant mice to study the role of voltage-gated calcium channels in the retina.

artículo científico publicado en 2002

Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter.

artículo científico publicado en 1991

Zebrafish blowout provides genetic evidence for Patched1-mediated negative regulation of Hedgehog signaling within the proximal optic vesicle of the vertebrate eye.

artículo científico publicado en 2008

rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA.

artículo científico publicado en 2011

γ1Subunit Interactions within the Skeletal Muscle L-type Voltage-gated Calcium Channels

artículo científico publicado en 2002

Lista de obras de Ronald Gregg

A calcium channel mutation causing hypokalemic periodic paralysis

A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia

A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites

A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells.

Absence of voltage-dependent calcium channels delays photoreceptor degeneration in rd mice

Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses

Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome

Analysis of the Zebrafish perplexed mutation reveals tissue-specific roles for de novo pyrimidine synthesis during development

Anesthetic requirement is increased in redheads

Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols ⬇️

Assignment of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CCHL1A1) to chromosome 12p12-pter

Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32

Autoantibodies in melanoma-associated retinopathy target TRPM1 cation channels of retinal ON bipolar cells

CACNA1S expression in mouse retina: Novel isoforms and antibody cross-reactivity with GPR179.

Ca2+ sparks in embryonic mouse skeletal muscle selectively deficient in dihydropyridine receptor alpha1S or beta1a subunits

Cardiac troponin I gene knockout: a mouse model of myocardial troponin I deficiency

Cholesterol synthesis and HMG CoA reductase activity during hepatocarcinogenesis in rats

Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)

Comparisons of structural and functional abnormalities in mouse b-wave mutants.

Dinucleotide repeat polymorphism at the D10S178 locus ⬇️

Dinucleotide repeat polymorphism at the D10S179 locus.

Dinucleotide repeat polymorphism at the D7S547 locus

Distribution of voltage gated calcium channel β subunits in the mouse retina

Effect of assay temperature on the kinetics of 3-hydroxy-3-methylglutaryl-coenzyme A reductase in rat liver and Morris hepatoma 5123C.

Efficient transformation and frequent single-site, single-copy insertion of DNA can be obtained in mouse erythroleukemia cells transformed by electroporation.

Elimination of the rho1 subunit abolishes GABA(C) receptor expression and alters visual processing in the mouse retina

Evolutionary shifts in courtship pheromone composition revealed by EST analysis of plethodontid salamander mental glands

Expression of genes inserted at the human beta-globin locus by homologous recombination

Failure to maintain eye-specific segregation in nob, a mutant with abnormally patterned retinal activity

G to A polymorphism in the CACNLG gene

GPR158/179 regulate G protein signaling by controlling localization and activity of the RGS7 complexes

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

GPR179 is required for high sensitivity of the mGluR6 signaling cascade in depolarizing bipolar cells.

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region

Genetic heterogeneity in families with hereditary multiple exostoses

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31

Genetic variations associated with red hair color and fear of dental pain, anxiety regarding dental care and avoidance of dental care

Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome

Hepatic cholesterol synthesis and hydroxymethylglutaryl CoA reductase activity after injection of methylazoxymethanol acetate

Immunohistochemical analysis of the outer plexiform layer in the nob mouse shows no abnormalities

In vivo development of retinal ON-bipolar cell axonal terminals visualized in nyx::MYFP transgenic zebrafish

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Insertion of DNA sequences into the human chromosomal beta-globin locus by homologous recombination

Intermolecular Interaction between Anchoring Subunits Specify Subcellular Targeting and Function of RGS Proteins in Retina ON-Bipolar Neurons

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome

Involvement of the carboxy-terminus region of the dihydropyridine receptor beta1a subunit in excitation-contraction coupling of skeletal muscle

LRIT3 is Required for Nyctalopin Expression and Normal ON and OFF Pathway Signaling in the Retina

Lineage-specific differences in evolutionary mode in a salamander courtship pheromone.

Linkage mapping of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CACNL1A1) to chromosome 12p13.2-pter using a dinucleotide repeat

Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24.

Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome

Loss of Lrp2 in zebrafish disrupts pronephric tubular clearance but not forebrain development.

Malignant hyperthermia, congenital anomalies, and DNA linkage analysis

Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).

Modulation of L-type Ca2+ current but not activation of Ca2+ release by the gamma1 subunit of the dihydropyridine receptor of skeletal muscle

Molecular Origin of the L-Type Ca2+ Current of Skeletal Muscle Myotubes Selectively Deficient in Dihydropyridine Receptor β1a Subunit ⬇️

Molecular characterization and expression patterns of a B-type nuclear lamin during sea urchin embryogenesis

Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location

Molecular cloning and analysis of Ca2+/calmodulin-dependent protein kinase II from the chicken brain

Morphological and Physiological Consequences of the Selective Elimination of Rod Photoreceptors in Transgenic Mice

Muscle contractions guide rohon-beard peripheral sensory axons

Mutation screening of dihydropyridine receptor gamma subunit cDNA from malignant hyperthermia susceptible patients

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish

Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma

Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation

Neuromuscular synaptic patterning requires the function of skeletal muscle dihydropyridine receptors.

Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods

Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness

Phosphatidylinositol synthase is required for lens structural integrity and photoreceptor cell survival in the zebrafish eye.

Plethodontid modulating factor, a hypervariable salamander courtship pheromone in the three-finger protein superfamily

Positional cloning of the young mutation identifies an essential role for the Brahma chromatin remodeling complex in mediating retinal cell differentiation ⬇️

Presence of the Gpr179(nob5) allele in a C3H-derived transgenic mouse

Presynaptic Expression of LRIT3 Transsynaptically Organizes the Postsynaptic Glutamate Signaling Complex Containing TRPM1

Proteomic and UTR analyses of a rapidly evolving hypervariable family of vertebrate pheromones

Recovery of Ca2+ current, charge movements, and Ca2+ transients in myotubes deficient in dihydropyridine receptor beta 1 subunit transfected with beta 1 cDNA ⬇️

Regulated expression of genes inserted at the human chromosomal beta-globin locus by homologous recombination ⬇️

Regulatory elements in the introns of the human HPRT gene are necessary for its expression in embryonic stem cells

Reversible phosphorylation of 3-hydroxy-3-methylglutaryl CoA reductase in Morris hepatomas