Lista de obras - Russell G. Snell - Dominio Público Uruguay

A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire

artículo científico publicado en 2005

A simple vacuum blotter design

artículo científico publicado en 1991

A splice variant of the TATA-box binding protein encoding the polyglutamine-containing N-terminal domain that accumulates in Alzheimer's disease

artículo científico publicado en 2009

A triad of highly divergent polymeric immunoglobulin receptor (PIGR) haplotypes with major effect on IgA concentration in bovine milk

artículo científico publicado en 2013

Advantage of including Genomic Information to Predict Breeding Values for Lactation Yields of Milk, Fat, and Protein or Somatic Cell Score in a New Zealand Dairy Goat Herd

artículo científico publicado en 2020

Amyloid-like inclusions in Huntington's disease.

artículo científico publicado en 2000

An ovine transgenic Huntington's disease model

artículo científico publicado en 2010

Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.

artículo científico publicado en 2003

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

artículo científico publicado en 2015

Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases

artículo científico publicado en 2017

Centrifugal transfer and sandwich hybridisation permit 12-hour Southern blot analyses

artículo científico publicado en 1987

Chemical neuroanatomy of the substantia nigra in the ovine brain

scientific article published on 18 January 2019

Chromosomal variations in Candida albicans

artículo científico publicado en 1987

Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification

artículo científico publicado el 1 de noviembre de 1992

Comparison of Huntington's disease CAG Repeat Length Stability in Human Motor Cortex and Cingulate Gyrus

artículo científico publicado en 2016

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

artículo científico publicado en 2012

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia ⬇️

artículo científico publicado el 1 de septiembre de 2001

Distribution of gephyrin in the human brain: an immunohistochemical analysis

artículo científico publicado en 2003

Early and progressive circadian abnormalities in Huntington's disease sheep are unmasked by social environment

artículo científico publicado en 2014

Effects of reduced frequency of milk removal on gene expression in the bovine mammary gland.

artículo científico publicado en 2009

Epigenetic regulation of pyruvate carboxylase gene expression in the postpartum liver

artículo científico publicado en 2016

Estimation of genetic and crossbreeding parameters of fatty acid concentrations in milk fat predicted by mid-infrared spectroscopy in New Zealand dairy cattle.

artículo científico publicado en 2014

Expression of key lipid metabolism genes in adipose tissue is not altered by once-daily milking during a feed restriction of grazing dairy cows.

artículo científico publicado en 2013

Expression variants of the lipogenic AGPAT6 gene affect diverse milk composition phenotypes in Bos taurus

artículo científico publicado en 2014

Functional confirmation of PLAG1 as the candidate causative gene underlying major pleiotropic effects on body weight and milk characteristics.

artículo científico publicado en 2017

Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle

artículo científico publicado en 2014

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

artículo científico publicado en 2000

Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates

artículo científico publicado en 2013

Gene expression in liver and adipose tissue is altered during and after temporary changes to postpartum milking frequency

artículo científico publicado en 2014

Genetic variation in PLAG1 associates with early life body weight and peripubertal weight and growth in Bos taurus

artículo científico publicado en 2011

Identification of elevated urea as a severe, ubiquitous metabolic defect in the brain of patients with Huntington's disease.

artículo científico publicado en 2015

Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

artículo científico publicado en 2002

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

artículo científico publicado en 1998

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

artículo científico publicado en 2003

Late-onset Huntington's disease: a clinical and molecular study

artículo científico publicado en 1994

MboI RFLP at the D4S43 (C4H) locus

artículo científico publicado en 1991

Metabolic disruption identified in the Huntington's disease transgenic sheep model

artículo científico publicado en 2016

Metabolic proteomics of the liver and mammary gland during lactation

artículo científico publicado en 2012

Metabolite mapping reveals severe widespread perturbation of multiple metabolic processes in Huntington's disease human brain

artículo científico publicado en 2016

Modelling brain dopamine-serotonin vesicular transport disease in

artículo científico publicado en 2018

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis ⬇️

artículo científico publicado el 1 de noviembre de 1997

Molecular analysis and clinical correlations of the Huntington's disease mutation

artículo científico publicado en 1993

Molecular investigation of TBP allele length: a SCA17 cellular model and population study

artículo científico publicado en 2003

Natural cryptic variation in epigenetic modulation of an embryonic gene regulatory network

scientific article published on 01 June 2020

Non-replication of genome-wide-based associations of efficient food conversion in dairy cows

artículo científico publicado en 2012

Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy

article

Phenotypic population screen identifies a new mutation in bovine DGAT1 responsible for unsaturated milk fat

artículo científico publicado en 2015

Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition

artículo científico publicado en 2002

Potential molecular consequences of transgene integration: The R6/2 mouse example

scientific article published on 25 January 2017

Profiling the metabolic proteome of bovine mammary tissue

artículo científico publicado en 2008

Proteomic Analysis of Microsomes from Lactating Bovine Mammary Gland

article

Rapid RNA analysis of individual Caenorhabditis elegans

artículo científico publicado en 2015

Rapid, quantitative analysis of 3'- and 6'-sialyllactose in milk by flow-injection analysis-mass spectrometry: screening of milks for naturally elevated sialyllactose concentration

artículo científico publicado en 2013

Reducing milking frequency during nutrient restriction has no effect on the hepatic transcriptome of lactating dairy cattle

artículo científico publicado en 2013

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

artículo científico publicado en 1993

Separation of chromosomal DNA molecules from C.albicans by pulsed field gel electrophoresis

artículo científico publicado en 1986

Sequence-based Association Analysis Reveals an MGST1 eQTL with Pleiotropic Effects on Bovine Milk Composition

artículo científico publicado en 2016

Structure and sequence of the bovine butyrophilin gene

artículo científico publicado en 1997

TATA-binding protein in neurodegenerative disease.

artículo científico publicado en 2005

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

artículo científico publicado en 2004

Testes of DAZL null neonatal sheep lack prospermatogonia but maintain normal somatic cell morphology and marker expression

artículo científico publicado en 2020

The expression of genes involved in hepatic metabolism is altered by temporary changes to milking frequency.

artículo científico publicado en 2013

Widespread -regulation of RNA editing in a large mammal

artículo científico publicado en 2018

Lista de obras de Russell G. Snell

A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire

A simple vacuum blotter design

A splice variant of the TATA-box binding protein encoding the polyglutamine-containing N-terminal domain that accumulates in Alzheimer's disease

A triad of highly divergent polymeric immunoglobulin receptor (PIGR) haplotypes with major effect on IgA concentration in bovine milk

Advantage of including Genomic Information to Predict Breeding Values for Lactation Yields of Milk, Fat, and Protein or Somatic Cell Score in a New Zealand Dairy Goat Herd

Amyloid-like inclusions in Huntington's disease.

An ovine transgenic Huntington's disease model

Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases

Centrifugal transfer and sandwich hybridisation permit 12-hour Southern blot analyses

Chemical neuroanatomy of the substantia nigra in the ovine brain

Chromosomal variations in Candida albicans

Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification

Comparison of Huntington's disease CAG Repeat Length Stability in Human Motor Cortex and Cingulate Gyrus

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia ⬇️

Distribution of gephyrin in the human brain: an immunohistochemical analysis

Early and progressive circadian abnormalities in Huntington's disease sheep are unmasked by social environment

Effects of reduced frequency of milk removal on gene expression in the bovine mammary gland.

Epigenetic regulation of pyruvate carboxylase gene expression in the postpartum liver

Estimation of genetic and crossbreeding parameters of fatty acid concentrations in milk fat predicted by mid-infrared spectroscopy in New Zealand dairy cattle.

Expression of key lipid metabolism genes in adipose tissue is not altered by once-daily milking during a feed restriction of grazing dairy cows.

Expression variants of the lipogenic AGPAT6 gene affect diverse milk composition phenotypes in Bos taurus

Functional confirmation of PLAG1 as the candidate causative gene underlying major pleiotropic effects on body weight and milk characteristics.

Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates

Gene expression in liver and adipose tissue is altered during and after temporary changes to postpartum milking frequency

Genetic variation in PLAG1 associates with early life body weight and peripubertal weight and growth in Bos taurus

Identification of elevated urea as a severe, ubiquitous metabolic defect in the brain of patients with Huntington's disease.

Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

Late-onset Huntington's disease: a clinical and molecular study

MboI RFLP at the D4S43 (C4H) locus

Metabolic disruption identified in the Huntington's disease transgenic sheep model

Metabolic proteomics of the liver and mammary gland during lactation

Metabolite mapping reveals severe widespread perturbation of multiple metabolic processes in Huntington's disease human brain

Modelling brain dopamine-serotonin vesicular transport disease in

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis ⬇️

Molecular analysis and clinical correlations of the Huntington's disease mutation

Molecular investigation of TBP allele length: a SCA17 cellular model and population study

Natural cryptic variation in epigenetic modulation of an embryonic gene regulatory network

Non-replication of genome-wide-based associations of efficient food conversion in dairy cows

Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy

Phenotypic population screen identifies a new mutation in bovine DGAT1 responsible for unsaturated milk fat

Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition

Potential molecular consequences of transgene integration: The R6/2 mouse example

Profiling the metabolic proteome of bovine mammary tissue

Proteomic Analysis of Microsomes from Lactating Bovine Mammary Gland

Rapid RNA analysis of individual Caenorhabditis elegans

Rapid, quantitative analysis of 3'- and 6'-sialyllactose in milk by flow-injection analysis-mass spectrometry: screening of milks for naturally elevated sialyllactose concentration

Reducing milking frequency during nutrient restriction has no effect on the hepatic transcriptome of lactating dairy cattle

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Separation of chromosomal DNA molecules from C.albicans by pulsed field gel electrophoresis

Sequence-based Association Analysis Reveals an MGST1 eQTL with Pleiotropic Effects on Bovine Milk Composition

Structure and sequence of the bovine butyrophilin gene

TATA-binding protein in neurodegenerative disease.

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

Testes of DAZL null neonatal sheep lack prospermatogonia but maintain normal somatic cell morphology and marker expression

The expression of genes involved in hepatic metabolism is altered by temporary changes to milking frequency.

Widespread -regulation of RNA editing in a large mammal