Lista de obras - Paul J. Lockhart - Dominio Público Uruguay

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

artículo científico publicado en 2017

ADGRV1 is implicated in myoclonic epilepsy

artículo científico publicado en 2017

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

artículo científico publicado en 2016

ARID1B-mediated disorders: Mutations and possible mechanisms.

artículo científico publicado en 2015

ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death

artículo científico publicado en 2022

Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats

artículo científico publicado en 2002

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

artículo científico publicado en 2015

Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson's disease.

artículo científico publicado en 2009

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

artículo científico publicado en 2020

Biochemical characterization of torsinB.

artículo científico publicado en 2004

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

scientific article published on 20 June 2019

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

artículo científico publicado en 2018

Cell and gene therapy for Friedreich ataxia: progress to date

artículo científico publicado en 2014

Cerebral hypomyelination associated with biallelic variants of FIG4

scientific article published on 28 February 2019

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

artículo científico publicado en 2021

Clinical and Neuropathological Features Associated With Loss of RAB39B

artículo científico publicado en 2020

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

artículo científico publicado en 2020

Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue

artículo científico publicado en 2000

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

artículo científico publicado en 2015

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

artículo científico

Controversy on chloroplast origins

artículo científico publicado el 20 de abril de 1992

Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.

artículo científico publicado en 1998

Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase

artículo científico publicado en 2002

Correction to: ASK1 is a novel molecular target for preventing aminoglycoside‑induced hair cell death

artículo científico publicado en 2022

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans.

artículo científico publicado en 2018

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

artículo científico publicado en 2017

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons.

artículo científico publicado en 2018

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

artículo científico publicado en 2004

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

artículo científico publicado en 2010

Degeneration in different parkinsonian syndromes relates to astrocyte type and astrocyte protein expression

artículo científico publicado en 2009

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse

artículo científico publicado en 2010

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

article by Rick M Tankard et al published 6 December 2018 in American Journal of Human Genetics

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

artículo científico publicado en 2017

Eukaryotic Expression Vectors That Replicate to Low Copy Number in Bacteria: Transient Expression of the Menkes Protein

artículo científico publicado en 1998

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

artículo científico publicado en 2014

Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels

article

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

artículo científico publicado en 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

artículo científico publicado en 2015

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

artículo científico publicado en 2019

Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1).

artículo científico publicado en 1998

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

artículo científico publicado en 2018

Functional analysis of the sheep Wilson disease protein (sATP7B) in CHO cells

artículo científico publicado en 2001

Functional association of the parkin gene promoter with idiopathic Parkinson's disease

artículo científico publicado en 2002

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line.

artículo científico publicado en 2018

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.

artículo científico publicado en 2018

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults

scientific article published on 27 December 2018

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

scientific article published on 01 August 2019

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia

artículo científico publicado en 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

artículo científico publicado en 2019

Genetic characterisation identifies bottom-of-sulcus dysplasia as an mTORopathy

artículo científico publicado en 2020

Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism.

artículo científico publicado en 2009

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

artículo científico publicado en 2016

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

artículo científico publicado en 2014

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

artículo científico publicado en 2015

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

scientific article published on 18 October 2016

How molecules evolve in eubacteria

artículo científico publicado en 2000

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

artículo científico publicado en 2011

Identification and characterization of the human parkin gene promoter

artículo científico publicado en 2001

Identification and validation of control cell lines for accurate parkin dosage analysis

artículo científico publicado en 2008

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

artículo científico publicado en 2014

Identification of a novel gene linked to parkin via a bi-directional promoter

artículo científico publicado en 2003

Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis

artículo científico publicado en 2004

Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools.

artículo científico publicado en 2009

IsProchlorothrix hollandica the best choice as a prokaryotic model for higher plant Chla/b photosynthesis?

scientific article published on 01 July 1993

Isolation of a partial candidate gene for Menkes disease by positional cloning

artículo científico publicado en 1993

It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).

artículo científico publicado en 2004

Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population

article

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism

article

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Long range regulation of human FXN gene expression

artículo científico publicado en 2011

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

artículo científico publicado en 2016

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

artículo científico publicado en 2017

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

artículo científico publicado en 2016

Molecular analysis of the PArkin co-regulated gene and association with male infertility.

artículo científico publicado en 2009

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease

scientific journal article

Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease

artículo científico publicado en 2004

Mutant torsinA interacts with tyrosine hydroxylase in cultured cells.

artículo científico publicado en 2009

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

artículo científico publicado en 2013

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

artículo científico publicado en 2017

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

artículo científico publicado en 2014

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

artículo científico publicado en 2013

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

artículo científico publicado en 2014

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.

artículo científico publicado en 2017

Oligomeric alpha-synuclein inhibits tubulin polymerization

artículo científico publicado en 2007

Organelle genes--do they jump or are they pushed?

artículo científico publicado en 2000

Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseases

artículo científico publicado en 2007

Parkin co-regulated gene is involved in aggresome formation and autophagy in response to proteasomal impairment

artículo científico publicado en 2012

Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons

artículo científico publicado en 2002

Pathogenic Variants in GPC4 Cause Keipert Syndrome

scientific article published on 11 April 2019

Phylogenetic analysis of plastid origins based on secA sequences

artículo científico publicado en 1998

Plastid origins.

artículo científico publicado en 1992

Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.

artículo científico publicado en 2007

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

artículo científico publicado en 2020

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).

artículo científico publicado en 2004

Quantitative proteomic analysis of mitochondrial proteins: relevance to Lewy body formation and Parkinson's disease

artículo científico publicado en 2004

RING finger 1 mutations in Parkin produce altered localization of the protein

artículo científico publicado en 2003

Rasmussen encephalitis tissue transfer program

artículo científico publicado en 2016

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.

artículo científico publicado en 2018

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

artículo científico publicado en 2011

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

artículo científico publicado en 2001

Refining analyses of copy number variation identifies specific genes associated with developmental delay

artículo científico publicado en 2014

Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain.

artículo científico publicado en 2008

Relationships in the alpine Ranunculus haastii (Ranunculaceae) complex and recognition of R. piliferus and R. acraeus from southern New Zealand

article published in January 2006

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings

artículo científico publicado en 2002

SCA2 may present as levodopa-responsive parkinsonism

artículo científico publicado en 2003

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

artículo científico publicado en 2019

Sequence of Prochloron didemni atpBE and the inference of chloroplast origins ⬇️

artículo científico publicado el 1 de abril de 1992

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

artículo científico publicado en 2018

Substitutional bias confounds inference of cyanelle origins from sequence data

artículo científico publicado el 1 de febrero de 1992

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

artículo científico publicado en 2017

Teaching NeuroImages: Imaging features ofDCC-mediated mirror movements and isolated agenesis of the corpus callosum

artículo científico publicado en 2018

The COMT Val158 allele is associated with impaired delayed-match-to-sample performance in ADHD.

artículo científico publicado en 2012

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval

artículo científico publicado en 2003

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease

artículo científico publicado en 2018

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.

artículo científico publicado en 2002

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

artículo científico publicado en 2020

Translation initiator EIF4G1 mutations in familial Parkinson disease

artículo científico publicado en 2011

alpha-synuclein gene haplotypes are associated with Parkinson's disease

article

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

artículo científico publicado en 2012

Lista de obras de Paul J. Lockhart

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

ADGRV1 is implicated in myoclonic epilepsy

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

ARID1B-mediated disorders: Mutations and possible mechanisms.

ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death

Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson's disease.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Biochemical characterization of torsinB.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

Cell and gene therapy for Friedreich ataxia: progress to date

Cerebral hypomyelination associated with biallelic variants of FIG4

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Clinical and Neuropathological Features Associated With Loss of RAB39B

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia

Controversy on chloroplast origins

Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.

Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase

Correction to: ASK1 is a novel molecular target for preventing aminoglycoside‑induced hair cell death

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans.

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons.

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

Degeneration in different parkinsonian syndromes relates to astrocyte type and astrocyte protein expression

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

Eukaryotic Expression Vectors That Replicate to Low Copy Number in Bacteria: Transient Expression of the Menkes Protein

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1).

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

Functional analysis of the sheep Wilson disease protein (sATP7B) in CHO cells

Functional association of the parkin gene promoter with idiopathic Parkinson's disease

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line.

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Genetic characterisation identifies bottom-of-sulcus dysplasia as an mTORopathy

Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism.

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

How molecules evolve in eubacteria

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

Identification and characterization of the human parkin gene promoter

Identification and validation of control cell lines for accurate parkin dosage analysis

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

Identification of a novel gene linked to parkin via a bi-directional promoter

Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis

Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools.

IsProchlorothrix hollandica the best choice as a prokaryotic model for higher plant Chla/b photosynthesis?

Isolation of a partial candidate gene for Menkes disease by positional cloning

It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).

Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Long range regulation of human FXN gene expression

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

Molecular analysis of the PArkin co-regulated gene and association with male infertility.

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease

Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease

Mutant torsinA interacts with tyrosine hydroxylase in cultured cells.

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance