Lista de obras - Ryan L Davis - Dominio Público Uruguay

A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases.

artículo científico publicado en 2016

A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.

artículo científico publicado en 2009

A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family

artículo científico publicado en 2015

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

artículo científico publicado en 2015

Adjacent substitutions (γ352Gly→Cys and 353Thr→Pro) in fibrinogen Ilam cause diminished γ chain expression

artículo científico publicado en 2010

Adult-only exposure of male rats to a diet of high phytoestrogen content increases apoptosis of meiotic and post-meiotic germ cells

artículo científico publicado en 2007

Benign substitution (Aα289 Arg→Gln) in the αC region of human fibrinogen

artículo científico publicado en 2010

Deletion of five residues from the coiled coil of fibrinogen (Bbeta Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemia

artículo científico publicado en 2009

Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019

Epigenetic, polymorphic and mutational (Αα167Arg→Lys) contribution to a functionally abnormal fibrinogen

artículo científico publicado en 2011

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

scientific article published on 20 July 2018

Expression of the long form of the prolactin receptor in magnocellular oxytocin neurons is associated with specific prolactin regulation of oxytocin neurons.

artículo científico publicado en 2006

Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia

artículo científico publicado en 2007

Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease.

artículo científico publicado en 2013

Gastrointestinal dysfunction in Parkinson's disease

scientific article published on 27 January 2020

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia

scientific article published on 01 February 2019

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing

scientific article published on 01 August 2019

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

scientific journal article

Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models.

artículo científico publicado en 2016

Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.

artículo científico publicado en 2018

Mitochondrial diseases

artículo científico publicado en 2018

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

artículo científico publicado en 2015

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

artículo científico publicado en 2015

New fibrinogen substitution (gammaSer313Arg) causes diminished gamma chain expression and hypodysfibrinogenaemia

artículo científico publicado en 2009

Next-Generation Sequencing and Emerging Technologies

scientific article published on 16 May 2019

Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia

artículo científico publicado en 2010

Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification

artículo científico publicado en 2008

POLG mutations in Australian patients with mitochondrial disease

artículo científico publicado en 2013

Parkinson's disease and the gastrointestinal microbiome

scientific article published on 30 April 2019

Substitution (γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid content

scientific article published on 13 September 2010

Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy.

artículo científico

The genetics of mitochondrial disease.

artículo científico publicado en 2011

The gut microbiota: A novel therapeutic target in Parkinson's disease?

scientific article published on 12 August 2019

Two novel mutations at contiguous codons in the fibrinogen Bbeta chain associated with hypofibrinogenaemia

artículo científico publicado en 2009

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes

scientific article published on 07 November 2019

Lista de obras de Ryan L Davis

A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases.

A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.

A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

Adjacent substitutions (γ352Gly→Cys and 353Thr→Pro) in fibrinogen Ilam cause diminished γ chain expression

Adult-only exposure of male rats to a diet of high phytoestrogen content increases apoptosis of meiotic and post-meiotic germ cells

Benign substitution (Aα289 Arg→Gln) in the αC region of human fibrinogen

Deletion of five residues from the coiled coil of fibrinogen (Bbeta Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemia

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Epigenetic, polymorphic and mutational (Αα167Arg→Lys) contribution to a functionally abnormal fibrinogen

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

Expression of the long form of the prolactin receptor in magnocellular oxytocin neurons is associated with specific prolactin regulation of oxytocin neurons.

Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia

Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease.

Gastrointestinal dysfunction in Parkinson's disease

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models.

Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.

Mitochondrial diseases

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

New fibrinogen substitution (gammaSer313Arg) causes diminished gamma chain expression and hypodysfibrinogenaemia

Next-Generation Sequencing and Emerging Technologies

Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia

Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification

POLG mutations in Australian patients with mitochondrial disease

Parkinson's disease and the gastrointestinal microbiome

Substitution (γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid content

Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy.

The genetics of mitochondrial disease.

The gut microbiota: A novel therapeutic target in Parkinson's disease?

Two novel mutations at contiguous codons in the fibrinogen Bbeta chain associated with hypofibrinogenaemia

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes